-
1
-
-
33847694979
-
Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy
-
Adachi, H.; Waza, M.; Katsuno, M.; Tanaka, F.; Doyu, M.; Sobue, G. Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy. Neuropathol. Appl. Neurobiol. 33(2):135-151; 2007.
-
(2007)
Neuropathol. Appl. Neurobiol.
, vol.33
, Issue.2
, pp. 135-151
-
-
Adachi, H.1
Waza, M.2
Katsuno, M.3
Tanaka, F.4
Doyu, M.5
Sobue, G.6
-
2
-
-
0034780024
-
High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia
-
Almqvist, E. W.; Elterman, D. S.; MacLeod, P. M.; Hayden, M. R. High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin. Genet. 60(3):198-205; 2001.
-
(2001)
Clin. Genet.
, vol.60
, Issue.3
, pp. 198-205
-
-
Almqvist, E.W.1
Elterman, D.S.2
McLeod, P.M.3
Hayden, M.R.4
-
3
-
-
84864631163
-
Genetic correction of Huntington's disease phenotypes in induced pluripotent stem cells
-
An, M. C.; Zhang, N.; Scott, G.; Montoro, D.; Wittkop, T.; Mooney, S.; Melov, S.; Ellerby, L. M. Genetic correction of Huntington's disease phenotypes in induced pluripotent stem cells. Cell Stem Cell 11(2):253-263; 2012.
-
(2012)
Cell Stem Cell
, vol.11
, Issue.2
, pp. 253-263
-
-
An, M.C.1
Zhang, N.2
Scott, G.3
Montoro, D.4
Wittkop, T.5
Mooney, S.6
Melov, S.7
Ellerby, L.M.8
-
4
-
-
0033978812
-
Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease)
-
Antonini, G.; Gragnani, F.; Romaniello, A.; Pennisi, E. M.; Morino, S.; Ceschin, V.; Santoro, L.; Cruccu, G. Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease). Muscle Nerve 23(2):252-258; 2000.
-
(2000)
Muscle Nerve
, vol.23
, Issue.2
, pp. 252-258
-
-
Antonini, G.1
Gragnani, F.2
Romaniello, A.3
Pennisi, E.M.4
Morino, S.5
Ceschin, V.6
Santoro, L.7
Cruccu, G.8
-
5
-
-
0034108408
-
Neural stem cells: From cell biology to cell replacement
-
Armstrong, R. J.; Svendsen, C. N. Neural stem cells: From cell biology to cell replacement. Cell Transplant. 9(2):139-152; 2000.
-
(2000)
Cell Transplant.
, vol.9
, Issue.2
, pp. 139-152
-
-
Armstrong, R.J.1
Svendsen, C.N.2
-
6
-
-
0033935379
-
Survival, neuronal differentiation, and fiber outgrowth of propagated human neural precursor grafts in an animal model of Huntington's disease
-
Armstrong, R. J.; Watts, C.; Svendsen, C. N.; Dunnett, S. B.; Rosser, A. E. Survival, neuronal differentiation, and fiber outgrowth of propagated human neural precursor grafts in an animal model of Huntington's disease. Cell Transplant. 9(1):55-64; 2000.
-
(2000)
Cell Transplant.
, vol.9
, Issue.1
, pp. 55-64
-
-
Armstrong, R.J.1
Watts, C.2
Svendsen, C.N.3
Dunnett, S.B.4
Rosser, A.E.5
-
7
-
-
33745115069
-
Natural history of spinal and bulbar muscular atrophy (SBMA): A study of 223 Japanese patients
-
Atsuta, N.; Watanabe, H.; Ito, M.; Banno, H.; Suzuki, K.; Katsuno, M.; Tanaka, F.; Tamakoshi, A.; Sobue, G. Natural history of spinal and bulbar muscular atrophy (SBMA): A study of 223 Japanese patients. Brain 129(Pt 6):1446-1455; 2006.
-
(2006)
Brain
, vol.129
, Issue.PART 6
, pp. 1446-1455
-
-
Atsuta, N.1
Watanabe, H.2
Ito, M.3
Banno, H.4
Suzuki, K.5
Katsuno, M.6
Tanaka, F.7
Tamakoshi, A.8
Sobue, G.9
-
8
-
-
56149125562
-
Weight loss in Huntington disease increases with higher CAG repeat number
-
Aziz, N. A.; van der Burg, J. M.; Landwehrmeyer, G. B.; Brundin, P.; Stijnen, T.; Roos, R. A. Weight loss in Huntington disease increases with higher CAG repeat number. Neurology 71(19):1506-1513; 2008.
-
(2008)
Neurology
, vol.71
, Issue.19
, pp. 1506-1513
-
-
Aziz, N.A.1
van der Burg, J.M.2
Landwehrmeyer, G.B.3
Brundin, P.4
Stijnen, T.5
Roos, R.A.6
-
9
-
-
0141705319
-
Highly regionalized distribution of stromal cell-derived factor-1/CXCL12 in adult rat brain: Constitutive expression in cholinergic, dopaminergic and vasopressinergic neurons
-
Banisadr, G.; Skrzydelski, D.; Kitabgi, P.; Rostene, W.; Parsadaniantz, S. M. Highly regionalized distribution of stromal cell-derived factor-1/CXCL12 in adult rat brain: Constitutive expression in cholinergic, dopaminergic and vasopressinergic neurons. Eur. J. Neurosci. 18(6):1593-1606; 2003.
-
(2003)
Eur. J. Neurosci.
, vol.18
, Issue.6
, pp. 1593-1606
-
-
Banisadr, G.1
Skrzydelski, D.2
Kitabgi, P.3
Rostene, W.4
Parsadaniantz, S.M.5
-
10
-
-
10744229091
-
Neural subtype specification of fertilization and nuclear transfer embryonic stem cells and application in parkinsonian mice
-
Barberi, T.; Klivenyi, P.; Calingasan, N. Y.; Lee, H.; Kawamata, H.; Loonam, K.; Perrier, A. L.; Bruses, J.; Rubio, M. E.; Topf, N.; Tabar, V.; Harrison, N. L.; Beal, M. F.; Moore, M. A.; Studer, L. Neural subtype specification of fertilization and nuclear transfer embryonic stem cells and application in parkinsonian mice. Nat. Biotechnol. 21(10):1200-1207; 2003.
-
(2003)
Nat. Biotechnol.
, vol.21
, Issue.10
, pp. 1200-1207
-
-
Barberi, T.1
Klivenyi, P.2
Calingasan, N.Y.3
Lee, H.4
Kawamata, H.5
Loonam, K.6
Perrier, A.L.7
Bruses, J.8
Rubio, M.E.9
Topf, N.10
Tabar, V.11
Harrison, N.L.12
Beal, M.F.13
Moore, M.A.14
Studer, L.15
-
11
-
-
0038701684
-
Huntingtin aggregation and toxicity in Huntington's disease
-
Bates, G. Huntingtin aggregation and toxicity in Huntington's disease. Lancet 361(9369):1642-1644; 2003.
-
(2003)
Lancet
, vol.361
, Issue.9369
, pp. 1642-1644
-
-
Bates, G.1
-
12
-
-
1642444219
-
Kennedy's disease initially manifesting as an endocrine disorder
-
Battaglia, F.; Le Galudec, V.; Cossee, M.; Tranchant, C.; Warter, J. M.; Echaniz-Laguna, A. Kennedy's disease initially manifesting as an endocrine disorder. J. Clin. Neuromuscul. Dis. 4(4):165-167; 2003.
-
(2003)
J. Clin. Neuromuscul. Dis.
, vol.4
, Issue.4
, pp. 165-167
-
-
Battaglia, F.1
Le Galudec, V.2
Cossee, M.3
Tranchant, C.4
Warter, J.M.5
Echaniz-Laguna, A.6
-
13
-
-
69949170793
-
The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies
-
Bauer, P. O.; Nukina, N. The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies. J. Neurochem. 110(6):1737-1765; 2009.
-
(2009)
J. Neurochem.
, vol.110
, Issue.6
, pp. 1737-1765
-
-
Bauer, P.O.1
Nukina, N.2
-
14
-
-
34547807613
-
Global changes to the ubiquitin system in Huntington's disease
-
Bennett, E. J.; Shaler, T. A.; Woodman, B.; Ryu, K. Y.; Zaitseva, T. S.; Becker, C. H.; Bates, G. P.; Schulman, H.; Kopito, R. R. Global changes to the ubiquitin system in Huntington's disease. Nature 448(7154):704-708; 2007.
-
(2007)
Nature
, vol.448
, Issue.7154
, pp. 704-708
-
-
Bennett, E.J.1
Shaler, T.A.2
Woodman, B.3
Ryu, K.Y.4
Zaitseva, T.S.5
Becker, C.H.6
Bates, G.P.7
Schulman, H.8
Kopito, R.R.9
-
15
-
-
80955131284
-
Cellular therapy and induced neuronal replacement for Huntington's disease
-
Benraiss, A.; Goldman, S. A. Cellular therapy and induced neuronal replacement for Huntington's disease. Neurotherapeutics 8(4):577-590; 2011.
-
(2011)
Neurotherapeutics
, vol.8
, Issue.4
, pp. 577-590
-
-
Benraiss, A.1
Goldman, S.A.2
-
16
-
-
24744447434
-
Defining the role of ubiquitin-interacting motifs in the polyglutamine disease protein, ataxin-3
-
Berke, S. J.; Chai, Y.; Marrs, G. L.; Wen, H.; Paulson, H. L. Defining the role of ubiquitin-interacting motifs in the polyglutamine disease protein, ataxin-3. J. Biol. Chem. 280(36):32026-32034; 2005.
-
(2005)
J. Biol. Chem.
, vol.280
, Issue.36
, pp. 32026-32034
-
-
Berke, S.J.1
Chai, Y.2
Marrs, G.L.3
Wen, H.4
Paulson, H.L.5
-
17
-
-
52649089692
-
Analysis of segregation patterns in Machado-Joseph disease pedigrees
-
Bettencourt, C.; Santos, C.; Kay, T.; Vasconcelos, J.; Lima, M. Analysis of segregation patterns in Machado-Joseph disease pedigrees. J. Hum. Genet. 53(10):920-923; 2008.
-
(2008)
J. Hum. Genet.
, vol.53
, Issue.10
, pp. 920-923
-
-
Bettencourt, C.1
Santos, C.2
Kay, T.3
Vasconcelos, J.4
Lima, M.5
-
18
-
-
33646421164
-
Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase
-
Borrell-Pages, M.; Canals, J. M.; Cordelieres, F. P.; Parker, J. A.; Pineda, J. R.; Grange, G.; Bryson, E. A.; Guillermier, M.; Hirsch, E.; Hantraye, P.; Cheetham, M. E.; Neri, C.; Alberch, J.; Brouillet, E.; Saudou, F.; Humbert, S. Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase. J. Clin. Invest. 116(5):1410-1424; 2006.
-
(2006)
J. Clin. Invest.
, vol.116
, Issue.5
, pp. 1410-1424
-
-
Borrell-Pages, M.1
Canals, J.M.2
Cordelieres, F.P.3
Parker, J.A.4
Pineda, J.R.5
Grange, G.6
Bryson, E.A.7
Guillermier, M.8
Hirsch, E.9
Hantraye, P.10
Cheetham, M.E.11
Neri, C.12
Alberch, J.13
Brouillet, E.14
Saudou, F.15
Humbert, S.16
-
19
-
-
77955843583
-
Cystamine and intrabody co-treatment confers additional benefits in a fly model of Huntington's disease
-
Bortvedt, S. F.; McLear, J. A.; Messer, A.; Ahern-Rindell, A. J.; Wolfgang, W. J. Cystamine and intrabody co-treatment confers additional benefits in a fly model of Huntington's disease. Neurobiol. Dis. 40(1):130-134; 2010.
-
(2010)
Neurobiol. Dis.
, vol.40
, Issue.1
, pp. 130-134
-
-
Bortvedt, S.F.1
McLear, J.A.2
Messer, A.3
Ahern-Rindell, A.J.4
Wolfgang, W.J.5
-
20
-
-
0028130670
-
Dentatorubralpallidoluysian atrophy and Haw River syndrome
-
Burke, J. R.; Ikeuchi, T.; Koide, R.; Tsuji, S.; Yamada, M.; Pericak-Vance, M. A.; Vance, J. M. Dentatorubralpallidoluysian atrophy and Haw River syndrome. Lancet 344(8938):1711-1712; 1994.
-
(1994)
Lancet
, vol.344
, Issue.8938
, pp. 1711-1712
-
-
Burke, J.R.1
Ikeuchi, T.2
Koide, R.3
Tsuji, S.4
Yamada, M.5
Pericak-Vance, M.A.6
Vance, J.M.7
-
21
-
-
84860692601
-
Engineered antibody therapies to counteract mutant huntingtin and related toxic intracellular proteins
-
Butler, D. C.; McLear, J. A.; Messer, A. Engineered antibody therapies to counteract mutant huntingtin and related toxic intracellular proteins. Prog. Neurobiol. 97(2):190-204; 2012.
-
(2012)
Prog. Neurobiol.
, vol.97
, Issue.2
, pp. 190-204
-
-
Butler, D.C.1
McLear, J.A.2
Messer, A.3
-
22
-
-
8244220324
-
Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
-
Cancel, G.; Durr, A.; Didierjean, O.; Imbert, G.; Burk, K.; Lezin, A.; Belal, S.; Benomar, A.; Abada-Bendib, M.; Vial, C.; Guimaraes, J.; Chneiweiss, H.; Stevanin, G.; Yvert, G.; Abbas, N.; Saudou, F.; Lebre, A. S.; Yahyaoui, M.; Hentati, F.; Vernant, J. C.; Klockgether, T.; Mandel, J. L.; Agid, Y.; Brice, A. Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families. Hum. Mol. Genet. 6(5):709-715; 1997.
-
(1997)
Hum. Mol. Genet.
, vol.6
, Issue.5
, pp. 709-715
-
-
Cancel, G.1
Durr, A.2
Didierjean, O.3
Imbert, G.4
Burk, K.5
Lezin, A.6
Belal, S.7
Benomar, A.8
Abada-Bendib, M.9
Vial, C.10
Guimaraes, J.11
Chneiweiss, H.12
Stevanin, G.13
Yvert, G.14
Abbas, N.15
Saudou, F.16
Lebre, A.S.17
Yahyaoui, M.18
Hentati, F.19
Vernant, J.C.20
Klockgether, T.21
Mandel, J.L.22
Agid, Y.23
Brice, A.24
more..
-
23
-
-
0036566229
-
YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit
-
Cemal, C. K.; Carroll, C. J.; Lawrence, L.; Lowrie, M. B.; Ruddle, P.; Al-Mahdawi, S.; King, R. H.; Pook, M. A.; Huxley, C.; Chamberlain, S. YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit. Hum. Mol. Genet. 11(9):1075-1094; 2002.
-
(2002)
Hum. Mol. Genet.
, vol.11
, Issue.9
, pp. 1075-1094
-
-
Cemal, C.K.1
Carroll, C.J.2
Lawrence, L.3
Lowrie, M.B.4
Ruddle, P.5
Al-Mahdawi, S.6
King, R.H.7
Pook, M.A.8
Huxley, C.9
Chamberlain, S.10
-
24
-
-
0034283877
-
Transcriptional dysregulation in Huntington's disease
-
Cha, J. H. Transcriptional dysregulation in Huntington's disease. Trends Neurosci. 23(9):387-392; 2000.
-
(2000)
Trends Neurosci.
, vol.23
, Issue.9
, pp. 387-392
-
-
Cha, J.H.1
-
25
-
-
84861369587
-
Impaired heat shock response in cells expressing full-length polyglutamineexpanded huntingtin
-
Chafekar, S. M.; Duennwald, M. L. Impaired heat shock response in cells expressing full-length polyglutamineexpanded huntingtin. PLoS One 7(5):e37929; 2012.
-
(2012)
PLoS One
, vol.7
, Issue.5
-
-
Chafekar, S.M.1
Duennwald, M.L.2
-
26
-
-
67650240395
-
Serum creatine kinase levels in spinobulbar muscular atrophy and amyotrophic lateral sclerosis
-
Chahin, N.; Sorenson, E. J. Serum creatine kinase levels in spinobulbar muscular atrophy and amyotrophic lateral sclerosis. Muscle Nerve 40(1):126-129; 2009.
-
(2009)
Muscle Nerve
, vol.40
, Issue.1
, pp. 126-129
-
-
Chahin, N.1
Sorenson, E.J.2
-
27
-
-
0028715918
-
Huntington's disease in Hong Kong Chinese: Epidemiology and clinical picture
-
Chang, C. M.; Yu, Y. L.; Fong, K. Y.; Wong, M. T.; Chan, Y. W.; Ng, T. H.; Leung, C. M.; Chan, V. Huntington's disease in Hong Kong Chinese: Epidemiology and clinical picture. Clin. Exp. Neurol. 31:43-51; 1994.
-
(1994)
Clin. Exp. Neurol.
, vol.31
, pp. 43-51
-
-
Chang, C.M.1
Yu, Y.L.2
Fong, K.Y.3
Wong, M.T.4
Chan, Y.W.5
Ng, T.H.6
Leung, C.M.7
Chan, V.8
-
28
-
-
79961122734
-
Mesenchymal stem cell transplantation ameliorates motor function deterioration of spinocerebellar ataxia by rescuing cerebellar Purkinje cells
-
Chang, Y. K.; Chen, M. H.; Chiang, Y. H.; Chen, Y. F.; Ma, W. H.; Tseng, C. Y.; Soong, B. W.; Ho, J. H.; Lee, O. K. Mesenchymal stem cell transplantation ameliorates motor function deterioration of spinocerebellar ataxia by rescuing cerebellar Purkinje cells. J. Biomed. Sci. 18:54; 2011.
-
(2011)
J. Biomed. Sci.
, vol.18
, pp. 54
-
-
Chang, Y.K.1
Chen, M.H.2
Chiang, Y.H.3
Chen, Y.F.4
Ma, W.H.5
Tseng, C.Y.6
Soong, B.W.7
Ho, J.H.8
Lee, O.K.9
-
29
-
-
0037418936
-
Intravenous administration of human bone marrow stromal cells induces angiogenesis in the ischemic boundary zone after stroke in rats
-
Chen, J.; Zhang, Z. G.; Li, Y.; Wang, L.; Xu, Y. X.; Gautam, S. C.; Lu, M.; Zhu, Z.; Chopp, M. Intravenous administration of human bone marrow stromal cells induces angiogenesis in the ischemic boundary zone after stroke in rats. Circ. Res. 92(6):692-699; 2003.
-
(2003)
Circ. Res.
, vol.92
, Issue.6
, pp. 692-699
-
-
Chen, J.1
Zhang, Z.G.2
Li, Y.3
Wang, L.4
Xu, Y.X.5
Gautam, S.C.6
Lu, M.7
Zhu, Z.8
Chopp, M.9
-
30
-
-
77957156210
-
Nationwide population-based epidemiologic study of Huntington's Disease in Taiwan
-
Chen, Y. Y.; Lai, C. H. Nationwide population-based epidemiologic study of Huntington's Disease in Taiwan. Neuroepidemiology 35(4):250-254; 2010.
-
(2010)
Neuroepidemiology
, vol.35
, Issue.4
, pp. 250-254
-
-
Chen, Y.Y.1
Lai, C.H.2
-
31
-
-
2442719008
-
Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy
-
Chevalier-Larsen, E. S.; O'Brien, C. J.; Wang, H.; Jenkins, S. C.; Holder, L.; Lieberman, A. P.; Merry, D. E. Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy. J. Neurosci. 24(20):4778-4786; 2004.
-
(2004)
J. Neurosci.
, vol.24
, Issue.20
, pp. 4778-4786
-
-
Chevalier-Larsen, E.S.1
O'Brien, C.J.2
Wang, H.3
Jenkins, S.C.4
Holder, L.5
Lieberman, A.P.6
Merry, D.E.7
-
32
-
-
70350323721
-
Grafting neural precursor cells promotes functional recovery in an SCA1 mouse model
-
Chintawar, S.; Hourez, R.; Ravella, A.; Gall, D.; Orduz, D.; Rai, M.; Bishop, D. P.; Geuna, S.; Schiffmann, S. N.; Pandolfo, M. Grafting neural precursor cells promotes functional recovery in an SCA1 mouse model. J. Neurosci. 29(42):13126-13135; 2009.
-
(2009)
J. Neurosci.
, vol.29
, Issue.42
, pp. 13126-13135
-
-
Chintawar, S.1
Hourez, R.2
Ravella, A.3
Gall, D.4
Orduz, D.5
Rai, M.6
Bishop, D.P.7
Geuna, S.8
Schiffmann, S.N.9
Pandolfo, M.10
-
33
-
-
0141987860
-
The ubiquitin proteasome system in neurodegenerative diseases: Sometimes the chicken, sometimes the egg
-
Ciechanover, A.; Brundin, P. The ubiquitin proteasome system in neurodegenerative diseases: Sometimes the chicken, sometimes the egg. Neuron 40(2):427-446; 2003.
-
(2003)
Neuron
, vol.40
, Issue.2
, pp. 427-446
-
-
Ciechanover, A.1
Brundin, P.2
-
34
-
-
27744574750
-
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England
-
Craig, K.; Keers, S. M.; Walls, T. J.; Curtis, A.; Chinnery, P. F. Minimum prevalence of spinocerebellar ataxia 17 in the north east of England. J. Neurol. Sci. 239(1):105-109; 2005.
-
(2005)
J. Neurol. Sci.
, vol.239
, Issue.1
, pp. 105-109
-
-
Craig, K.1
Keers, S.M.2
Walls, T.J.3
Curtis, A.4
Chinnery, P.F.5
-
35
-
-
6844254538
-
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
-
David, G.; Durr, A.; Stevanin, G.; Cancel, G.; Abbas, N.; Benomar, A.; Belal, S.; Lebre, A. S.; Abada-Bendib, M.; Grid, D.; Holmberg, M.; Yahyaoui, M.; Hentati, F.; Chkili, T.; Agid, Y.; Brice, A. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum. Mol. Genet. 7(2):165-170; 1998.
-
(1998)
Hum. Mol. Genet.
, vol.7
, Issue.2
, pp. 165-170
-
-
David, G.1
Durr, A.2
Stevanin, G.3
Cancel, G.4
Abbas, N.5
Benomar, A.6
Belal, S.7
Lebre, A.S.8
Abada-Bendib, M.9
Grid, D.10
Holmberg, M.11
Yahyaoui, M.12
Hentati, F.13
Chkili, T.14
Agid, Y.15
Brice, A.16
-
36
-
-
18544389189
-
A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length
-
Dejager, S.; Bry-Gauillard, H.; Bruckert, E.; Eymard, B.; Salachas, F.; LeGuern, E.; Tardieu, S.; Chadarevian, R.; Giral, P.; Turpin, G. A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. J. Clin. Endocrinol. Metab. 87(8):3893-3901; 2002.
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, Issue.8
, pp. 3893-3901
-
-
Dejager, S.1
Bry-Gauillard, H.2
Bruckert, E.3
Eymard, B.4
Salachas, F.5
LeGuern, E.6
Tardieu, S.7
Chadarevian, R.8
Giral, P.9
Turpin, G.10
-
37
-
-
13844253350
-
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector
-
Di Domenico, C.; Villani, G. R.; Di Napoli, D.; Reyero, E. G.; Lombardo, A.; Naldini, L.; Di Natale, P. Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector. Hum. Gene Ther. 16(1):81-90; 2005.
-
(2005)
Hum. Gene Ther.
, vol.16
, Issue.1
, pp. 81-90
-
-
Di Domenico, C.1
Villani, G.R.2
Di Napoli, D.3
Reyero, E.G.4
Lombardo, A.5
Naldini, L.6
Di Natale, P.7
-
38
-
-
50149098605
-
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons
-
Dimos, J. T.; Rodolfa, K. T.; Niakan, K. K.; Weisenthal, L. M.; Mitsumoto, H.; Chung, W.; Croft, G. F.; Saphier, G.; Leibel, R.; Goland, R.; Wichterle, H.; Henderson, C. E.; Eggan, K. Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science 321(5893):1218-1221; 2008.
-
(2008)
Science
, vol.321
, Issue.5893
, pp. 1218-1221
-
-
Dimos, J.T.1
Rodolfa, K.T.2
Niakan, K.K.3
Weisenthal, L.M.4
Mitsumoto, H.5
Chung, W.6
Croft, G.F.7
Saphier, G.8
Leibel, R.9
Goland, R.10
Wichterle, H.11
Henderson, C.E.12
Eggan, K.13
-
39
-
-
34547587566
-
Antiviral immunity directed by small RNAs
-
Ding, S. W.; Voinnet, O. Antiviral immunity directed by small RNAs. Cell 130(3):413-426; 2007.
-
(2007)
Cell
, vol.130
, Issue.3
, pp. 413-426
-
-
Ding, S.W.1
Voinnet, O.2
-
40
-
-
0042691818
-
Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis
-
Doss-Pepe, E. W.; Stenroos, E. S.; Johnson, W. G.; Madura, K. Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis. Mol. Cell. Biol. 23(18):6469-6483; 2003.
-
(2003)
Mol. Cell. Biol.
, vol.23
, Issue.18
, pp. 6469-6483
-
-
Doss-Pepe, E.W.1
Stenroos, E.S.2
Johnson, W.G.3
Madura, K.4
-
41
-
-
0026456689
-
Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene
-
Doyu, M.; Sobue, G.; Mukai, E.; Kachi, T.; Yasuda, T.; Mitsuma, T.; Takahashi, A. Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann. Neurol. 32(5):707-710; 1992.
-
(1992)
Ann. Neurol.
, vol.32
, Issue.5
, pp. 707-710
-
-
Doyu, M.1
Sobue, G.2
Mukai, E.3
Kachi, T.4
Yasuda, T.5
Mitsuma, T.6
Takahashi, A.7
-
42
-
-
65249131740
-
Sustained effects of nonallelespecific Huntingtin silencing
-
Drouet, V.; Perrin, V.; Hassig, R.; Dufour, N.; Auregan, G.; Alves, S.; Bonvento, G.; Brouillet, E.; Luthi-Carter, R.; Hantraye, P.; Deglon, N. Sustained effects of nonallelespecific Huntingtin silencing. Ann. Neurol. 65(3):276-285; 2009.
-
(2009)
Ann. Neurol.
, vol.65
, Issue.3
, pp. 276-285
-
-
Drouet, V.1
Perrin, V.2
Hassig, R.3
Dufour, N.4
Auregan, G.5
Alves, S.6
Bonvento, G.7
Brouillet, E.8
Luthi-Carter, R.9
Hantraye, P.10
Deglon, N.11
-
43
-
-
77955636420
-
Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond
-
Durr, A. Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond. Lancet Neurol. 9(9): 885-894; 2010.
-
(2010)
Lancet Neurol.
, vol.9
, Issue.9
, pp. 885-894
-
-
Durr, A.1
-
44
-
-
0029082383
-
Inactivation of the mouse Huntington's disease gene homolog Hdh
-
Duyao, M. P.; Auerbach, A. B.; Ryan, A.; Persichetti, F.; Barnes, G. T.; McNeil, S. M.; Ge, P.; Vonsattel, J. P.; Gusella, J. F.; Joyner, A. L. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269(5222):407-410; 1995.
-
(1995)
Science
, vol.269
, Issue.5222
, pp. 407-410
-
-
Duyao, M.P.1
Auerbach, A.B.2
Ryan, A.3
Persichetti, F.4
Barnes, G.T.5
McNeil, S.M.6
Ge, P.7
Vonsattel, J.P.8
Gusella, J.F.9
Joyner, A.L.10
-
45
-
-
58249110796
-
Induced pluripotent stem cells from a spinal muscular atrophy patient
-
Ebert, A. D.; Yu, J.; Rose, Jr., F. F.; Mattis, V. B.; Lorson, C. L.; Thomson, J. A.; Svendsen, C. N. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 457(7227):277-280; 2009.
-
(2009)
Nature
, vol.457
, Issue.7227
, pp. 277-280
-
-
Ebert, A.D.1
Yu, J.2
Rose Jr., F.F.3
Mattis, V.B.4
Lorson, C.L.5
Thomson, J.A.6
Svendsen, C.N.7
-
46
-
-
0042933863
-
Both apoptosis and necrosis occur early after intracerebral grafting of ventral mesencephalic tissue: A role for protease activation
-
Emgard, M.; Hallin, U.; Karlsson, J.; Bahr, B. A.; Brundin, P.; Blomgren, K. Both apoptosis and necrosis occur early after intracerebral grafting of ventral mesencephalic tissue: A role for protease activation. J. Neurochem. 86(5):1223-1232; 2003.
-
(2003)
J. Neurochem.
, vol.86
, Issue.5
, pp. 1223-1232
-
-
Emgard, M.1
Hallin, U.2
Karlsson, J.3
Bahr, B.A.4
Brundin, P.5
Blomgren, K.6
-
47
-
-
0037168599
-
Grafted neural stem cells develop into functional pyramidal neurons and integrate into host cortical circuitry
-
Englund, U.; Bjorklund, A.; Wictorin, K.; Lindvall, O.; Kokaia, M. Grafted neural stem cells develop into functional pyramidal neurons and integrate into host cortical circuitry. Proc. Natl. Acad. Sci. USA 99(26):17089-17094; 2002.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, Issue.26
, pp. 17089-17094
-
-
Englund, U.1
Bjorklund, A.2
Wictorin, K.3
Lindvall, O.4
Kokaia, M.5
-
48
-
-
80052383976
-
Targeting several CAG expansion diseases by a single antisense oligonucleotide
-
Evers, M. M.; Pepers, B. A.; van Deutekom, J. C.; Mulders, S. A.; den Dunnen, J. T.; Aartsma-Rus, A.; van Ommen, G. J.; van Roon-Mom, W. M. Targeting several CAG expansion diseases by a single antisense oligonucleotide. PLoS One 6(9):e24308; 2011.
-
(2011)
PLoS One
, vol.6
, Issue.9
-
-
Evers, M.M.1
Pepers, B.A.2
van Deutekom, J.C.3
Mulders, S.A.4
den Dunnen, J.T.5
Aartsma-Rus, A.6
van Ommen, G.J.7
van Roon-Mom, W.M.8
-
49
-
-
0031035995
-
The characteristic electrodiagnostic features of Kennedy's disease
-
Ferrante, M. A.; Wilbourn, A. J. The characteristic electrodiagnostic features of Kennedy's disease. Muscle Nerve 20(3):323-329; 1997.
-
(1997)
Muscle Nerve
, vol.20
, Issue.3
, pp. 323-329
-
-
Ferrante, M.A.1
Wilbourn, A.J.2
-
50
-
-
77958150991
-
Perspectives of Kennedy's disease
-
Finsterer, J. Perspectives of Kennedy's disease. J. Neurol. Sci. 298(1-2):1-10; 2010.
-
(2010)
J. Neurol. Sci.
, vol.298
, Issue.1-2
, pp. 1-10
-
-
Finsterer, J.1
-
52
-
-
33847177678
-
Infusion of allogeneic-related HLA mismatched mesenchymal stem cells for the treatment of incomplete engraftment following autologous haematopoietic stem cell transplantation
-
Fouillard, L.; Chapel, A.; Bories, D.; Bouchet, S.; Costa, J. M.; Rouard, H.; Herve, P.; Gourmelon, P.; Thierry, D.; Lopez, M.; Gorin, N. C. Infusion of allogeneic-related HLA mismatched mesenchymal stem cells for the treatment of incomplete engraftment following autologous haematopoietic stem cell transplantation. Leukemia 21(3): 568-570; 2007.
-
(2007)
Leukemia
, vol.21
, Issue.3
, pp. 568-570
-
-
Fouillard, L.1
Chapel, A.2
Bories, D.3
Bouchet, S.4
Costa, J.M.5
Rouard, H.6
Herve, P.7
Gourmelon, P.8
Thierry, D.9
Lopez, M.10
Gorin, N.C.11
-
53
-
-
0033565709
-
Site-specific migration and neuronal differentiation of human neural progenitor cells after transplantation in the adult rat brain
-
Fricker, R. A.; Carpenter, M. K.; Winkler, C.; Greco, C.; Gates, M. A.; Bjorklund, A. Site-specific migration and neuronal differentiation of human neural progenitor cells after transplantation in the adult rat brain. J. Neurosci. 19(14):5990-6005; 1999.
-
(1999)
J. Neurosci.
, vol.19
, Issue.14
, pp. 5990-6005
-
-
Fricker, R.A.1
Carpenter, M.K.2
Winkler, C.3
Greco, C.4
Gates, M.A.5
Bjorklund, A.6
-
54
-
-
70350432944
-
Activation of gene transcription by heat shock protein 27 may contribute to its neuronal protection
-
Friedman, M. J.; Li, S.; Li, X. J. Activation of gene transcription by heat shock protein 27 may contribute to its neuronal protection. J. Biol. Chem. 284(41):27944-27951; 2009.
-
(2009)
J. Biol. Chem.
, vol.284
, Issue.41
, pp. 27944-27951
-
-
Friedman, M.J.1
Li, S.2
Li, X.J.3
-
55
-
-
36448930958
-
Polyglutamine domain modulates the TBP-TFIIB interaction: Implications for its normal function and neurodegeneration
-
Friedman, M. J.; Shah, A. G.; Fang, Z. H.; Ward, E. G.; Warren, S. T.; Li, S.; Li, X. J. Polyglutamine domain modulates the TBP-TFIIB interaction: Implications for its normal function and neurodegeneration. Nat. Neurosci. 10(12):1519-1528; 2007.
-
(2007)
Nat. Neurosci.
, vol.10
, Issue.12
, pp. 1519-1528
-
-
Friedman, M.J.1
Shah, A.G.2
Fang, Z.H.3
Ward, E.G.4
Warren, S.T.5
Li, S.6
Li, X.J.7
-
56
-
-
43749091298
-
Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity
-
Friedman, M. J.; Wang, C. E.; Li, X. J.; Li, S. Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity. J. Biol. Chem. 283(13):8283-8290; 2008.
-
(2008)
J. Biol. Chem.
, vol.283
, Issue.13
, pp. 8283-8290
-
-
Friedman, M.J.1
Wang, C.E.2
Li, X.J.3
Li, S.4
-
57
-
-
25844487226
-
Diseases of unstable repeat expansion: Mechanisms and common principles
-
Gatchel, J. R.; Zoghbi, H. Y. Diseases of unstable repeat expansion: Mechanisms and common principles. Nat. Rev. Genet. 6(10):743-755; 2005.
-
(2005)
Nat. Rev. Genet.
, vol.6
, Issue.10
, pp. 743-755
-
-
Gatchel, J.R.1
Zoghbi, H.Y.2
-
58
-
-
69949140208
-
Spinocerebellar ataxia type 6 (SCA6): Neurodegeneration goes beyond the known brain predilection sites
-
Gierga, K.; Schelhaas, H. J.; Brunt, E. R.; Seidel, K.; Scherzed, W.; Egensperger, R.; de Vos, R. A.; den Dunnen, W.; Ippel, P. F.; Petrasch-Parwez, E.; Deller, T.; Schols, L.; Rub, U. Spinocerebellar ataxia type 6 (SCA6): Neurodegeneration goes beyond the known brain predilection sites. Neuropathol. Appl. Neurobiol. 35(5):515-527; 2009.
-
(2009)
Neuropathol. Appl. Neurobiol.
, vol.35
, Issue.5
, pp. 515-527
-
-
Gierga, K.1
Schelhaas, H.J.2
Brunt, E.R.3
Seidel, K.4
Scherzed, W.5
Egensperger, R.6
de Vos, R.A.7
den Dunnen, W.8
Ippel, P.F.9
Petrasch-Parwez, E.10
Deller, T.11
Schols, L.12
Rub, U.13
-
59
-
-
0034523402
-
The spinocerebellar ataxias
-
Gilman, S. The spinocerebellar ataxias. Clin. Neuropharmacol. 23(6):296-303; 2000.
-
(2000)
Clin. Neuropharmacol.
, vol.23
, Issue.6
, pp. 296-303
-
-
Gilman, S.1
-
60
-
-
20844462057
-
A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration
-
Goti, D.; Katzen, S. M.; Mez, J.; Kurtis, N.; Kiluk, J.; Ben-Haiem, L.; Jenkins, N. A.; Copeland, N. G.; Kakizuka, A.; Sharp, A. H.; Ross, C. A.; Mouton, P. R.; Colomer, V. A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration. J. Neurosci. 24(45):10266-10279; 2004.
-
(2004)
J. Neurosci.
, vol.24
, Issue.45
, pp. 10266-10279
-
-
Goti, D.1
Katzen, S.M.2
Mez, J.3
Kurtis, N.4
Kiluk, J.5
Ben-Haiem, L.6
Jenkins, N.A.7
Copeland, N.G.8
Kakizuka, A.9
Sharp, A.H.10
Ross, C.A.11
Mouton, P.R.12
Colomer, V.13
-
61
-
-
0035725264
-
Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy
-
Guidetti, D.; Sabadini, R.; Ferlini, A.; Torrente, I. Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy. Eur. J. Epidemiol. 17(6):587-591; 2001.
-
(2001)
Eur. J. Epidemiol.
, vol.17
, Issue.6
, pp. 587-591
-
-
Guidetti, D.1
Sabadini, R.2
Ferlini, A.3
Torrente, I.4
-
62
-
-
1542360717
-
Focal dystonia as a presenting sign of spinocerebellar ataxia 17
-
Hagenah, J. M.; Zuhlke, C.; Hellenbroich, Y.; Heide, W.; Klein, C. Focal dystonia as a presenting sign of spinocerebellar ataxia 17. Mov. Disord. 19(2):217-220; 2004.
-
(2004)
Mov. Disord.
, vol.19
, Issue.2
, pp. 217-220
-
-
Hagenah, J.M.1
Zuhlke, C.2
Hellenbroich, Y.3
Heide, W.4
Klein, C.5
-
63
-
-
70450177471
-
Postural tremor in X-linked spinal and bulbar muscular atrophy
-
Hanajima, R.; Terao, Y.; Nakatani-Enomoto, S.; Hamada, M.; Yugeta, A.; Matsumoto, H.; Yamamoto, T.; Tsuji, S.; Ugawa, Y. Postural tremor in X-linked spinal and bulbar muscular atrophy. Mov. Disord. 24(14):2063-2069; 2009.
-
(2009)
Mov. Disord.
, vol.24
, Issue.14
, pp. 2063-2069
-
-
Hanajima, R.1
Terao, Y.2
Nakatani-Enomoto, S.3
Hamada, M.4
Yugeta, A.5
Matsumoto, H.6
Yamamoto, T.7
Tsuji, S.8
Ugawa, Y.9
-
64
-
-
0020457362
-
X-linked recessive bulbospinal neuronopathy: A report of ten cases
-
Harding, A. E.; Thomas, P. K.; Baraitser, M.; Bradbury, P. G.; Morgan-Hughes, J. A.; Ponsford, J. R. X-linked recessive bulbospinal neuronopathy: A report of ten cases. J. Neurol. Neurosurg. Psychiatry 45(11):1012-1019; 1982.
-
(1982)
J. Neurol. Neurosurg. Psychiatry
, vol.45
, Issue.11
, pp. 1012-1019
-
-
Harding, A.E.1
Thomas, P.K.2
Baraitser, M.3
Bradbury, P.G.4
Morgan-Hughes, J.A.5
Ponsford, J.R.6
-
65
-
-
0041656292
-
The hunt for huntingtin function: Interaction partners tell many different stories
-
Harjes, P.; Wanker, E. E. The hunt for huntingtin function: Interaction partners tell many different stories. Trends Biochem. Sci 28(8):425-433; 2003.
-
(2003)
Trends Biochem. Sci
, vol.28
, Issue.8
, pp. 425-433
-
-
Harjes, P.1
Wanker, E.E.2
-
66
-
-
33748947808
-
Optimization of feline immunodeficiency virus vectors for RNA interference
-
Harper, S. Q.; Staber, P. D.; Beck, C. R.; Fineberg, S. K.; Stein, C.; Ochoa, D.; Davidson, B. L. Optimization of feline immunodeficiency virus vectors for RNA interference. J. Virol. 80(19):9371-9380; 2006.
-
(2006)
J. Virol.
, vol.80
, Issue.19
, pp. 9371-9380
-
-
Harper, S.Q.1
Staber, P.D.2
Beck, C.R.3
Fineberg, S.K.4
Stein, C.5
Ochoa, D.6
Davidson, B.L.7
-
67
-
-
0141454786
-
Cervical dystonia in dentatorubral-pallidoluysian atrophy
-
Hatano, T.; Okuma, Y.; Iijima, M.; Fujishima, K.; Goto, K.; Mizuno, Y. Cervical dystonia in dentatorubral-pallidoluysian atrophy. Acta Neurol. Scand. 108(4):287-289; 2003.
-
(2003)
Acta Neurol. Scand.
, vol.108
, Issue.4
, pp. 287-289
-
-
Hatano, T.1
Okuma, Y.2
Iijima, M.3
Fujishima, K.4
Goto, K.5
Mizuno, Y.6
-
68
-
-
0031739224
-
Hereditary dentatorubral-pallidoluysian atrophy: Detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain
-
Hayashi, Y.; Kakita, A.; Yamada, M.; Koide, R.; Igarashi, S.; Takano, H.; Ikeuchi, T.; Wakabayashi, K.; Egawa, S.; Tsuji, S.; Takahashi, H. Hereditary dentatorubral-pallidoluysian atrophy: Detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain. Acta Neuropathol. 96(6):547-552; 1998.
-
(1998)
Acta Neuropathol.
, vol.96
, Issue.6
, pp. 547-552
-
-
Hayashi, Y.1
Kakita, A.2
Yamada, M.3
Koide, R.4
Igarashi, S.5
Takano, H.6
Ikeuchi, T.7
Wakabayashi, K.8
Egawa, S.9
Tsuji, S.10
Takahashi, H.11
-
69
-
-
31944450798
-
Increased survival and migration of engrafted mesenchymal bone marrow stem cells in 6-hydroxydopaminelesioned rodents
-
Hellmann, M. A.; Panet, H.; Barhum, Y.; Melamed, E.; Offen, D. Increased survival and migration of engrafted mesenchymal bone marrow stem cells in 6-hydroxydopaminelesioned rodents. Neurosci. Lett. 395(2):124-128; 2006.
-
(2006)
Neurosci. Lett.
, vol.395
, Issue.2
, pp. 124-128
-
-
Hellmann, M.A.1
Panet, H.2
Barhum, Y.3
Melamed, E.4
Offen, D.5
-
70
-
-
33144469085
-
Glutamineexpanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction
-
Helmlinger, D.; Hardy, S.; Abou-Sleymane, G.; Eberlin, A.; Bowman, A. B.; Gansmuller, A.; Picaud, S.; Zoghbi, H. Y.; Trottier, Y.; Tora, L.; Devys, D. Glutamineexpanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS. Biol. 14(3):e67; 2006.
-
(2006)
PLoS. Biol.
, vol.14
, Issue.3
-
-
Helmlinger, D.1
Hardy, S.2
Abou-Sleymane, G.3
Eberlin, A.4
Bowman, A.B.5
Gansmuller, A.6
Picaud, S.7
Zoghbi, H.Y.8
Trottier, Y.9
Tora, L.10
Devys, D.11
-
71
-
-
3042771651
-
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes
-
Helmlinger, D.; Hardy, S.; Sasorith, S.; Klein, F.; Robert, F.; Weber, C.; Miguet, L.; Potier, N.; Van-Dorsselaer, A.; Wurtz, J. M.; Mandel, J. L.; Tora, L.; Devys, D. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum. Mol. Genet. 13(12):1257-1265; 2004.
-
(2004)
Hum. Mol. Genet.
, vol.13
, Issue.12
, pp. 1257-1265
-
-
Helmlinger, D.1
Hardy, S.2
Sasorith, S.3
Klein, F.4
Robert, F.5
Weber, C.6
Miguet, L.7
Potier, N.8
Van-Dorsselaer, A.9
Wurtz, J.M.10
Mandel, J.L.11
Tora, L.12
Devys, D.13
-
72
-
-
80052895774
-
Evaluation of spinal and bulbar muscular atrophy by the clustering index method
-
Higashihara, M.; Sonoo, M.; Yamamoto, T.; Nagashima, Y.; Uesugi, H.; Terao, Y.; Ugawa, Y.; Stalberg, E.; Tsuji, S. Evaluation of spinal and bulbar muscular atrophy by the clustering index method. Muscle Nerve 44(4):539-546; 2011.
-
(2011)
Muscle Nerve
, vol.44
, Issue.4
, pp. 539-546
-
-
Higashihara, M.1
Sonoo, M.2
Yamamoto, T.3
Nagashima, Y.4
Uesugi, H.5
Terao, Y.6
Ugawa, Y.7
Stalberg, E.8
Tsuji, S.9
-
73
-
-
84877615360
-
Therapeutic induction of autophagy to modulate neurodegenerative disease progression
-
Hochfeld, W. E.; Lee, S.; Rubinsztein, D. C. Therapeutic induction of autophagy to modulate neurodegenerative disease progression. Acta Pharmacol. Sin. 34(5):600-604; 2013.
-
(2013)
Acta Pharmacol. Sin.
, vol.34
, Issue.5
, pp. 600-604
-
-
Hochfeld, W.E.1
Lee, S.2
Rubinsztein, D.C.3
-
74
-
-
0033136692
-
A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration
-
Hodgson, J. G.; Agopyan, N.; Gutekunst, C. A.; Leavitt, B. R.; LePiane, F.; Singaraja, R.; Smith, D. J.; Bissada, N.; McCutcheon, K.; Nasir, J.; Jamot, L.; Li, X. J.; Stevens, M. E.; Rosemond, E.; Roder, J. C.; Phillips, A. G.; Rubin, E. M.; Hersch, S. M.; Hayden, M. R. A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron 23(1):181-192; 1999.
-
(1999)
Neuron
, vol.23
, Issue.1
, pp. 181-192
-
-
Hodgson, J.G.1
Agopyan, N.2
Gutekunst, C.A.3
Leavitt, B.R.4
LePiane, F.5
Singaraja, R.6
Smith, D.J.7
Bissada, N.8
McCutcheon, K.9
Nasir, J.10
Jamot, L.11
Li, X.J.12
Stevens, M.E.13
Rosemond, E.14
Roder, J.C.15
Phillips, A.G.16
Rubin, E.M.17
Hersch, S.M.18
Hayden, M.R.19
-
75
-
-
7144229376
-
Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions
-
Holmberg, M.; Duyckaerts, C.; Durr, A.; Cancel, G.; Gourfinkel-An, I.; Damier, P.; Faucheux, B.; Trottier, Y.; Hirsch, E. C.; Agid, Y.; Brice, A. Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions. Hum. Mol. Genet. 7(5):913-918; 1998.
-
(1998)
Hum. Mol. Genet.
, vol.7
, Issue.5
, pp. 913-918
-
-
Holmberg, M.1
Duyckaerts, C.2
Durr, A.3
Cancel, G.4
Gourfinkel-An, I.5
Damier, P.6
Faucheux, B.7
Trottier, Y.8
Hirsch, E.C.9
Agid, Y.10
Brice, A.11
-
76
-
-
0033812127
-
Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: Application of PCRbased Southern blot
-
Hsieh, M.; Lin, S. J.; Chen, J. F.; Lin, H. M.; Hsiao, K. M.; Li, S. Y.; Li, C.; Tsai, C. J. Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: Application of PCRbased Southern blot. J. Neurol. 247(8):623-629; 2000.
-
(2000)
J. Neurol.
, vol.247
, Issue.8
, pp. 623-629
-
-
Hsieh, M.1
Lin, S.J.2
Chen, J.F.3
Lin, H.M.4
Hsiao, K.M.5
Li, S.Y.6
Li, C.7
Tsai, C.J.8
-
77
-
-
0032450856
-
Amyloid formation by mutant huntingtin: Threshold, progressivity, and recruitment of normal polyglutamine proteins
-
Huang, C. C.; Faber, P. W.; Persichetti, F.; Mittal, V.; Vonsattel, J. P.; MacDonald, M. E.; Gusella, J. F. Amyloid formation by mutant huntingtin: Threshold, progressivity, and recruitment of normal polyglutamine proteins. Somat. Cell Mol. Genet. 24(4):217-233; 1998.
-
(1998)
Somat. Cell Mol. Genet.
, vol.24
, Issue.4
, pp. 217-233
-
-
Huang, C.C.1
Faber, P.W.2
Persichetti, F.3
Mittal, V.4
Vonsattel, J.P.5
McDonald, M.E.6
Gusella, J.F.7
-
78
-
-
0033044001
-
Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2
-
Huynh, D. P.; Del Bigio, M. R.; Ho, D. H.; Pulst, S. M. Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. Ann. Neurol. 45(2):232-241; 1999.
-
(1999)
Ann. Neurol.
, vol.45
, Issue.2
, pp. 232-241
-
-
Huynh, D.P.1
Del Bigio, M.R.2
Ho, D.H.3
Pulst, S.M.4
-
79
-
-
0026328864
-
Relation between cerebral white matter damage on CT and MRI and clinical data in DRPLA (pseudo-Huntington form)
-
Ihara, Y.; Namba, R.; Nobukuni, K.; Kawai, K.; Kuroda, S. [Relation between cerebral white matter damage on CT and MRI and clinical data in DRPLA (pseudo-Huntington form)]. Rinsho Shinkeigaku 31(8):815-820; 1991.
-
(1991)
Rinsho Shinkeigaku
, vol.31
, Issue.8
, pp. 815-820
-
-
Ihara, Y.1
Namba, R.2
Nobukuni, K.3
Kawai, K.4
Kuroda, S.5
-
80
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
Ikeda, H.; Yamaguchi, M.; Sugai, S.; Aze, Y.; Narumiya, S.; Kakizuka, A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat. Genet. 13(2):196-202; 1996.
-
(1996)
Nat. Genet.
, vol.13
, Issue.2
, pp. 196-202
-
-
Ikeda, H.1
Yamaguchi, M.2
Sugai, S.3
Aze, Y.4
Narumiya, S.5
Kakizuka, A.6
-
81
-
-
0029242169
-
Dentatorubral-pallidoluysian atrophy (DRPLA): Close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation
-
Ikeuchi, T.; Onodera, O.; Oyake, M.; Koide, R.; Tanaka, H.; Tsuji, S. Dentatorubral-pallidoluysian atrophy (DRPLA): Close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. Semin. Cell Biol. 16(1):37-44; 1995.
-
(1995)
Semin. Cell Biol.
, vol.16
, Issue.1
, pp. 37-44
-
-
Ikeuchi, T.1
Onodera, O.2
Oyake, M.3
Koide, R.4
Tanaka, H.5
Tsuji, S.6
-
82
-
-
84900457037
-
Spinocerebellar ataxia type 6
-
Ishikawa, K.; Mizusawa, H. [Spinocerebellar ataxia type 6]. Clin. Calcium 11(11):1451-1455; 2001.
-
(2001)
Clin. Calcium
, vol.11
, Issue.11
, pp. 1451-1455
-
-
Ishikawa, K.1
Mizusawa, H.2
-
83
-
-
0035954366
-
Cytoplasmic and nuclear polyglutamine aggregates in SCA6 Purkinje cells
-
Ishikawa, K.; Owada, K.; Ishida, K.; Fujigasaki, H.; Shun, L. M.; Tsunemi, T.; Ohkoshi, N.; Toru, S.; Mizutani, T.; Hayashi, M.; Arai, N.; Hasegawa, K.; Kawanami, T.; Kato, T.; Makifuchi, T.; Shoji, S.; Tanabe, T.; Mizusawa, H. Cytoplasmic and nuclear polyglutamine aggregates in SCA6 Purkinje cells. Neurology 56(12):1753-1756; 2001.
-
(2001)
Neurology
, vol.56
, Issue.12
, pp. 1753-1756
-
-
Ishikawa, K.1
Owada, K.2
Ishida, K.3
Fujigasaki, H.4
Shun, L.M.5
Tsunemi, T.6
Ohkoshi, N.7
Toru, S.8
Mizutani, T.9
Hayashi, M.10
Arai, N.11
Hasegawa, K.12
Kawanami, T.13
Kato, T.14
Makifuchi, T.15
Shoji, S.16
Tanabe, T.17
Mizusawa, H.18
-
84
-
-
0033043538
-
Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6)
-
Ishikawa, K.; Watanabe, M.; Yoshizawa, K.; Fujita, T.; Iwamoto, H.; Yoshizawa, T.; Harada, K.; Nakamagoe, K.; Komatsuzaki, Y.; Satoh, A.; Doi, M.; Ogata, T.; Kanazawa, I.; Shoji, S.; Mizusawa, H. Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6). J. Neurol. Neurosurg. Psychiatry 67(1):86-89; 1999.
-
(1999)
J. Neurol. Neurosurg. Psychiatry
, vol.67
, Issue.1
, pp. 86-89
-
-
Ishikawa, K.1
Watanabe, M.2
Yoshizawa, K.3
Fujita, T.4
Iwamoto, H.5
Yoshizawa, T.6
Harada, K.7
Nakamagoe, K.8
Komatsuzaki, Y.9
Satoh, A.10
Doi, M.11
Ogata, T.12
Kanazawa, I.13
Shoji, S.14
Mizusawa, H.15
-
85
-
-
84860681788
-
Autophagy and polyglutamine diseases
-
Jimenez-Sanchez, M.; Thomson, F.; Zavodszky, E.; Rubinsztein, D. C. Autophagy and polyglutamine diseases. Prog. Neurobiol. 97(2):67-82; 2012.
-
(2012)
Prog. Neurobiol.
, vol.97
, Issue.2
, pp. 67-82
-
-
Jimenez-Sanchez, M.1
Thomson, F.2
Zavodszky, E.3
Rubinsztein, D.C.4
-
86
-
-
77955755766
-
Preclinical assessment of stem cell therapies for neurological diseases
-
Joers, V. L.; Emborg, M. E. Preclinical assessment of stem cell therapies for neurological diseases. ILAR J. 51(1): 24-41; 2009.
-
(2009)
ILAR J.
, vol.51
, Issue.1
, pp. 24-41
-
-
Joers, V.L.1
Emborg, M.E.2
-
87
-
-
79953772216
-
Mesenchymal stem cells rescue Purkinje cells and improve motor functions in a mouse model of cerebellar ataxia
-
Jones, J.; Jaramillo-Merchan, J.; Bueno, C.; Pastor, D.; Viso-Leon, M.; Martinez, S. Mesenchymal stem cells rescue Purkinje cells and improve motor functions in a mouse model of cerebellar ataxia. Neurobiol. Dis. 40(2): 415-423; 2010.
-
(2010)
Neurobiol. Dis.
, vol.40
, Issue.2
, pp. 415-423
-
-
Jones, J.1
Jaramillo-Merchan, J.2
Bueno, C.3
Pastor, D.4
Viso-Leon, M.5
Martinez, S.6
-
88
-
-
84859001464
-
MRI shows a region-specific pattern of atrophy in spinocerebellar ataxia type 2
-
Jung, B. C.; Choi, S. I.; Du, A. X.; Cuzzocreo, J. L.; Ying, H. S.; Landman, B. A.; Perlman, S. L.; Baloh, R. W.; Zee, D. S.; Toga, A. W.; Prince, J. L.; Ying, S. H. MRI shows a region-specific pattern of atrophy in spinocerebellar ataxia type 2. Cerebellum 11(1):272-279; 2012.
-
(2012)
Cerebellum
, vol.11
, Issue.1
, pp. 272-279
-
-
Jung, B.C.1
Choi, S.I.2
Du, A.X.3
Cuzzocreo, J.L.4
Ying, H.S.5
Landman, B.A.6
Perlman, S.L.7
Baloh, R.W.8
Zee, D.S.9
Toga, A.W.10
Prince, J.L.11
Ying, S.H.12
-
89
-
-
35748984413
-
Widespread white matter changes in Kennedy disease: A voxel based morphometry study
-
Kassubek, J.; Juengling, F. D.; Sperfeld, A. D. Widespread white matter changes in Kennedy disease: A voxel based morphometry study. J. Neurol. Neurosurg. Psychiatry 78(11):1209-1212; 2007.
-
(2007)
J. Neurol. Neurosurg. Psychiatry
, vol.78
, Issue.11
, pp. 1209-1212
-
-
Kassubek, J.1
Juengling, F.D.2
Sperfeld, A.D.3
-
90
-
-
0038714285
-
Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy
-
Katsuno, M.; Adachi, H.; Doyu, M.; Minamiyama, M.; Sang, C.; Kobayashi, Y.; Inukai, A.; Sobue, G. Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. Nat. Med. 9(6):768-773; 2003.
-
(2003)
Nat. Med.
, vol.9
, Issue.6
, pp. 768-773
-
-
Katsuno, M.1
Adachi, H.2
Doyu, M.3
Minamiyama, M.4
Sang, C.5
Kobayashi, Y.6
Inukai, A.7
Sobue, G.8
-
91
-
-
18644379256
-
Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy
-
Katsuno, M.; Adachi, H.; Kume, A.; Li, M.; Nakagomi, Y.; Niwa, H.; Sang, C.; Kobayashi, Y.; Doyu, M.; Sobue, G. Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Neuron 35(5):843-854; 2002.
-
(2002)
Neuron
, vol.35
, Issue.5
, pp. 843-854
-
-
Katsuno, M.1
Adachi, H.2
Kume, A.3
Li, M.4
Nakagomi, Y.5
Niwa, H.6
Sang, C.7
Kobayashi, Y.8
Doyu, M.9
Sobue, G.10
-
92
-
-
77951520909
-
Disrupted transforming growth factor-beta signaling in spinal and bulbar muscular atrophy
-
Katsuno, M.; Adachi, H.; Minamiyama, M.; Waza, M.; Doi, H.; Kondo, N.; Mizoguchi, H.; Nitta, A.; Yamada, K.; Banno, H.; Suzuki, K.; Tanaka, F.; Sobue, G. Disrupted transforming growth factor-beta signaling in spinal and bulbar muscular atrophy. J. Neurosci. 30(16):5702-5712; 2010.
-
(2010)
J. Neurosci.
, vol.30
, Issue.16
, pp. 5702-5712
-
-
Katsuno, M.1
Adachi, H.2
Minamiyama, M.3
Waza, M.4
Doi, H.5
Kondo, N.6
Mizoguchi, H.7
Nitta, A.8
Yamada, K.9
Banno, H.10
Suzuki, K.11
Tanaka, F.12
Sobue, G.13
-
93
-
-
28044469532
-
Pharmacological induction of heat-shock proteins alleviates polyglutamine-mediated motor neuron disease
-
Katsuno, M.; Sang, C.; Adachi, H.; Minamiyama, M.; Waza, M.; Tanaka, F.; Doyu, M.; Sobue, G. Pharmacological induction of heat-shock proteins alleviates polyglutamine-mediated motor neuron disease. Proc. Natl. Acad. Sci. USA 102(46):16801-16806; 2005.
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, Issue.46
, pp. 16801-16806
-
-
Katsuno, M.1
Sang, C.2
Adachi, H.3
Minamiyama, M.4
Waza, M.5
Tanaka, F.6
Doyu, M.7
Sobue, G.8
-
94
-
-
84869870525
-
Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA)
-
Katsuno, M.; Tanaka, F.; Adachi, H.; Banno, H.; Suzuki, K.; Watanabe, H.; Sobue, G. Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA). Prog. Neurobiol. 99(3):246-256; 2012.
-
(2012)
Prog. Neurobiol.
, vol.99
, Issue.3
, pp. 246-256
-
-
Katsuno, M.1
Tanaka, F.2
Adachi, H.3
Banno, H.4
Suzuki, K.5
Watanabe, H.6
Sobue, G.7
-
95
-
-
0014310582
-
Progressive proximal spinal and bulbar muscular atrophy of late onset
-
Kennedy, W. R.; Alter, M.; Sung, J. H. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sexlinked recessive trait. Neurology 18(7):671-680; 1968.
-
(1968)
A sexlinked recessive trait. Neurology
, vol.18
, Issue.7
, pp. 671-680
-
-
Kennedy, W.R.1
Alter, M.2
Sung, J.H.3
-
96
-
-
0037019332
-
Dopamine neurons derived from embryonic stem cells function in an animal model of Parkinson's disease
-
Kim, J. H.; Auerbach, J. M.; Rodriguez-Gomez, J. A.; Velasco, I.; Gavin, D.; Lumelsky, N.; Lee, S. H.; Nguyen, J.; Sanchez-Pernaute, R.; Bankiewicz, K.; McKay, R. Dopamine neurons derived from embryonic stem cells function in an animal model of Parkinson's disease. Nature 418(6893):50-56; 2002.
-
(2002)
Nature
, vol.418
, Issue.6893
, pp. 50-56
-
-
Kim, J.H.1
Auerbach, J.M.2
Rodriguez-Gomez, J.A.3
Velasco, I.4
Gavin, D.5
Lumelsky, N.6
Lee, S.H.7
Nguyen, J.8
Sanchez-Pernaute, R.9
Bankiewicz, K.10
McKay, R.11
-
97
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
-
Klement, I. A.; Skinner, P. J.; Kaytor, M. D.; Yi, H.; Hersch, S. M.; Clark, H. B.; Zoghbi, H. Y.; Orr, H. T. Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95(1):41-53; 1998.
-
(1998)
Cell
, vol.95
, Issue.1
, pp. 41-53
-
-
Klement, I.A.1
Skinner, P.J.2
Kaytor, M.D.3
Yi, H.4
Hersch, S.M.5
Clark, H.B.6
Zoghbi, H.Y.7
Orr, H.T.8
-
98
-
-
0031683168
-
Autosomal dominant cerebellar ataxia type I
-
Klockgether, T.; Skalej, M.; Wedekind, D.; Luft, A. R.; Welte, D.; Schulz, J. B.; Abele, M.; Burk, K.; Laccone, F.; Brice, A.; Dichgans, J. Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain 121(Pt 9):1687-1693; 1998.
-
(1998)
MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain
, vol.121
, Issue.PART 9
, pp. 1687-1693
-
-
Klockgether, T.1
Skalej, M.2
Wedekind, D.3
Luft, A.R.4
Welte, D.5
Schulz, J.B.6
Abele, M.7
Burk, K.8
Laccone, F.9
Brice, A.10
Dichgans, J.11
-
99
-
-
84355161952
-
Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease
-
Koch, P.; Breuer, P.; Peitz, M.; Jungverdorben, J.; Kesavan, J.; Poppe, D.; Doerr, J.; Ladewig, J.; Mertens, J.; Tuting, T.; Hoffmann, P.; Klockgether, T.; Evert, B. O.; Wullner, U.; Brustle, O. Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. Nature 480(7378):543-546; 2011.
-
(2011)
Nature
, vol.480
, Issue.7378
, pp. 543-546
-
-
Koch, P.1
Breuer, P.2
Peitz, M.3
Jungverdorben, J.4
Kesavan, J.5
Poppe, D.6
Doerr, J.7
Ladewig, J.8
Mertens, J.9
Tuting, T.10
Hoffmann, P.11
Klockgether, T.12
Evert, B.O.13
Wullner, U.14
Brustle, O.15
-
100
-
-
17844392364
-
The pathogenesis of spinocerebellar ataxia
-
Koeppen, A. H. The pathogenesis of spinocerebellar ataxia. Cerebellum 4(1):62-73; 2005.
-
(2005)
Cerebellum
, vol.4
, Issue.1
, pp. 62-73
-
-
Koeppen, A.H.1
-
101
-
-
0032885515
-
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
-
Koide, R.; Kobayashi, S.; Shimohata, T.; Ikeuchi, T.; Maruyama, M.; Saito, M.; Yamada, M.; Takahashi, H.; Tsuji, S. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease? Hum. Mol. Genet. 8(11):2047-2053; 1999.
-
(1999)
Hum. Mol. Genet.
, vol.8
, Issue.11
, pp. 2047-2053
-
-
Koide, R.1
Kobayashi, S.2
Shimohata, T.3
Ikeuchi, T.4
Maruyama, M.5
Saito, M.6
Yamada, M.7
Takahashi, H.8
Tsuji, S.9
-
102
-
-
0031456508
-
Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy
-
Koide, R.; Onodera, O.; Ikeuchi, T.; Kondo, R.; Tanaka, H.; Tokiguchi, S.; Tomoda, A.; Miike, T.; Isa, F.; Beppu, H.; Shimizu, N.; Watanabe, Y.; Horikawa, Y.; Shimohata, T.; Hirota, K.; Ishikawa, A.; Tsuji, S. Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings. Neurology 49(6):1605-1612; 1997.
-
(1997)
Influence of CAG repeat size on MRI findings. Neurology
, vol.49
, Issue.6
, pp. 1605-1612
-
-
Koide, R.1
Onodera, O.2
Ikeuchi, T.3
Kondo, R.4
Tanaka, H.5
Tokiguchi, S.6
Tomoda, A.7
Miike, T.8
Isa, F.9
Beppu, H.10
Shimizu, N.11
Watanabe, Y.12
Horikawa, Y.13
Shimohata, T.14
Hirota, K.15
Ishikawa, A.16
Tsuji, S.17
-
103
-
-
0028359603
-
Incidence and prevalence of Huntington's disease in Olmsted County, Minnesota (1950 through 1989)
-
Kokmen, E.; Ozekmekci, F. S.; Beard, C. M.; O'Brien, P. C.; Kurland, L. T. Incidence and prevalence of Huntington's disease in Olmsted County, Minnesota (1950 through 1989). Arch. Neurol. 51(7):696-698; 1994.
-
(1994)
Arch. Neurol.
, vol.51
, Issue.7
, pp. 696-698
-
-
Kokmen, E.1
Ozekmekci, F.S.2
Beard, C.M.3
O'Brien, P.C.4
Kurland, L.T.5
-
104
-
-
0028815025
-
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
-
Komure, O.; Sano, A.; Nishino, N.; Yamauchi, N.; Ueno, S.; Kondoh, K.; Sano, N.; Takahashi, M.; Murayama, N.; Kondo, I.; Nagafuchi, S.; Yamada, M.; Kanazawa, I. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 45(1):143-149; 1995.
-
(1995)
Neurology
, vol.45
, Issue.1
, pp. 143-149
-
-
Komure, O.1
Sano, A.2
Nishino, N.3
Yamauchi, N.4
Ueno, S.5
Kondoh, K.6
Sano, N.7
Takahashi, M.8
Murayama, N.9
Kondo, I.10
Nagafuchi, S.11
Yamada, M.12
Kanazawa, I.13
-
105
-
-
33749265306
-
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17)
-
Lasek, K.; Lencer, R.; Gaser, C.; Hagenah, J.; Walter, U.; Wolters, A.; Kock, N.; Steinlechner, S.; Nagel, M.; Zuhlke, C.; Nitschke, M. F.; Brockmann, K.; Klein, C.; Rolfs, A.; Binkofski, F. Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). Brain 129(Pt 9):2341-2352; 2006.
-
(2006)
Brain
, vol.129
, Issue.PART 9
, pp. 2341-2352
-
-
Lasek, K.1
Lencer, R.2
Gaser, C.3
Hagenah, J.4
Walter, U.5
Wolters, A.6
Kock, N.7
Steinlechner, S.8
Nagel, M.9
Zuhlke, C.10
Nitschke, M.F.11
Brockmann, K.12
Klein, C.13
Rolfs, A.14
Binkofski, F.15
-
106
-
-
17944370599
-
Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7
-
La Spada, A. R.; Fu, Y. H.; Sopher, B. L.; Libby, R. T.; Wang, X.; Li, L. Y.; Einum, D. D.; Huang, J.; Possin, D. E.; Smith, A. C.; Martinez, R. A.; Koszdin, K. L.; Treuting, P. M.; Ware, C. B.; Hurley, J. B.; Ptacek, L. J.; Chen, S. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron 31(6):913-927; 2001.
-
(2001)
Neuron
, vol.31
, Issue.6
, pp. 913-927
-
-
La Spada, A.R.1
Fu, Y.H.2
Sopher, B.L.3
Libby, R.T.4
Wang, X.5
Li, L.Y.6
Einum, D.D.7
Huang, J.8
Possin, D.E.9
Smith, A.C.10
Martinez, R.A.11
Koszdin, K.L.12
Treuting, P.M.13
Ware, C.B.14
Hurley, J.B.15
Ptacek, L.J.16
Chen, S.17
-
107
-
-
0038521282
-
Polyglutamines placed into context
-
La Spada, A. R.; Taylor, J. P. Polyglutamines placed into context. Neuron 38(5):681-684; 2003.
-
(2003)
Neuron
, vol.38
, Issue.5
, pp. 681-684
-
-
La Spada, A.R.1
Taylor, J.P.2
-
108
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada, A. R.; Wilson, E. M.; Lubahn, D. B.; Harding, A. E.; Fischbeck, K. H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352(6330):77-79; 1991.
-
(1991)
Nature
, vol.352
, Issue.6330
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
109
-
-
0042524612
-
Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia
-
Le Ber, I.; Camuzat, A.; Castelnovo, G.; Azulay, J. P.; Genton, P.; Gastaut, J. L.; Broglin, D.; Labauge, P.; Brice, A.; Durr, A. Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. Arch. Neurol. 60(8):1097-1099; 2003.
-
(2003)
Arch. Neurol.
, vol.60
, Issue.8
, pp. 1097-1099
-
-
Le Ber, I.1
Camuzat, A.2
Castelnovo, G.3
Azulay, J.P.4
Genton, P.5
Gastaut, J.L.6
Broglin, D.7
Labauge, P.8
Brice, A.9
Durr, A.10
-
110
-
-
0034761117
-
Dentatorubropallidoluysian atrophy in Chinese
-
Lee, I. H.; Soong, B. W.; Lu, Y. C.; Chang, Y. C. Dentatorubropallidoluysian atrophy in Chinese. Arch. Neurol. 58(11):1905-1908; 2001.
-
(2001)
Arch. Neurol.
, vol.58
, Issue.11
, pp. 1905-1908
-
-
Lee, I.H.1
Soong, B.W.2
Lu, Y.C.3
Chang, Y.C.4
-
111
-
-
77956638921
-
A long-term follow-up study of intravenous autologous mesenchymal stem cell transplantation in patients with ischemic stroke
-
Lee, J. S.; Hong, J. M.; Moon, G. J.; Lee, P. H.; Ahn, Y. H.; Bang, O. Y. A long-term follow-up study of intravenous autologous mesenchymal stem cell transplantation in patients with ischemic stroke. Stem Cells 28(6):1099-1106; 2010.
-
(2010)
Stem Cells
, vol.28
, Issue.6
, pp. 1099-1106
-
-
Lee, J.S.1
Hong, J.M.2
Moon, G.J.3
Lee, P.H.4
Ahn, Y.H.5
Bang, O.Y.6
-
112
-
-
42349097728
-
Autologous mesenchymal stem cell therapy delays the progression of neurological deficits in patients with multiple system atrophy
-
Lee, P. H.; Kim, J. W.; Bang, O. Y.; Ahn, Y. H.; Joo, I. S.; Huh, K. Autologous mesenchymal stem cell therapy delays the progression of neurological deficits in patients with multiple system atrophy. Clin. Pharmacol. Ther. 83(5):723-730; 2008.
-
(2008)
Clin. Pharmacol. Ther.
, vol.83
, Issue.5
, pp. 723-730
-
-
Lee, P.H.1
Kim, J.W.2
Bang, O.Y.3
Ahn, Y.H.4
Joo, I.S.5
Huh, K.6
-
113
-
-
71549130415
-
Standard and modified statistical MUNE evaluations in spinal-bulbar muscular atrophy
-
Lehky, T. J.; Chen, C. J.; di Prospero, N. A.; Rhodes, L. E.; Fischbeck, K.; Floeter, M. K. Standard and modified statistical MUNE evaluations in spinal-bulbar muscular atrophy. Muscle Nerve 40(5):809-814; 2009.
-
(2009)
Muscle Nerve
, vol.40
, Issue.5
, pp. 809-814
-
-
Lehky, T.J.1
Chen, C.J.2
di Prospero, N.A.3
Rhodes, L.E.4
Fischbeck, K.5
Floeter, M.K.6
-
114
-
-
1242338856
-
Huntingtin-protein interactions and the pathogenesis of Huntington's disease
-
Li, S. H.; Li, X. J. Huntingtin-protein interactions and the pathogenesis of Huntington's disease. Trends Genet. 20(3):146-154; 2004.
-
(2004)
Trends Genet.
, vol.20
, Issue.3
, pp. 146-154
-
-
Li, S.H.1
Li, X.J.2
-
115
-
-
67651183756
-
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2
-
Liu, J.; Tang, T. S.; Tu, H.; Nelson, O.; Herndon, E.; Huynh, D. P.; Pulst, S. M.; Bezprozvanny, I. Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J. Neurosci. 29(29):9148-9162; 2009.
-
(2009)
J. Neurosci.
, vol.29
, Issue.29
, pp. 9148-9162
-
-
Liu, J.1
Tang, T.S.2
Tu, H.3
Nelson, O.4
Herndon, E.5
Huynh, D.P.6
Pulst, S.M.7
Bezprozvanny, I.8
-
116
-
-
0034977306
-
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world
-
Lund, A.; Udd, B.; Juvonen, V.; Andersen, P. M.; Cederquist, K.; Davis, M.; Gellera, C.; Kolmel, C.; Ronnevi, L. O.; Sperfeld, A. D.; Sorensen, S. A.; Tranebjaerg, L.; Van, M. L.; Watanabe, M.; Weber, M.; Yeung, L.; Savontaus, M. L. Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world. Eur. J. Hum. Genet. 9(6):431-436; 2001.
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, Issue.6
, pp. 431-436
-
-
Lund, A.1
Udd, B.2
Juvonen, V.3
Andersen, P.M.4
Cederquist, K.5
Davis, M.6
Gellera, C.7
Kolmel, C.8
Ronnevi, L.O.9
Sperfeld, A.D.10
Sorensen, S.A.11
Tranebjaerg, L.12
Van, M.L.13
Watanabe, M.14
Weber, M.15
Yeung, L.16
Savontaus, M.L.17
-
117
-
-
0036021684
-
Proton MRS in Kennedy disease: Absolute metabolite and macromolecular concentrations
-
Mader, I.; Karitzky, J.; Klose, U.; Seeger, U.; Sperfeld, A.; Naegele, T.; Schick, F.; Ludolph, A.; Grodd, W. Proton MRS in Kennedy disease: Absolute metabolite and macromolecular concentrations. J. Magn. Reson. Imaging 16(2): 160-167; 2002.
-
(2002)
J. Magn. Reson. Imaging
, vol.16
, Issue.2
, pp. 160-167
-
-
Mader, I.1
Karitzky, J.2
Klose, U.3
Seeger, U.4
Sperfeld, A.5
Naegele, T.6
Schick, F.7
Ludolph, A.8
Grodd, W.9
-
118
-
-
33645799913
-
Electrophysiologic characterization in spinocerebellar ataxia 17
-
Manganelli, F.; Perretti, A.; Nolano, M.; Lanzillo, B.; Bruni, A. C.; De Michele, G.; Filla, A.; Santoro, L. Electrophysiologic characterization in spinocerebellar ataxia 17. Neurology 66(6):932-934; 2006.
-
(2006)
Neurology
, vol.66
, Issue.6
, pp. 932-934
-
-
Manganelli, F.1
Perretti, A.2
Nolano, M.3
Lanzillo, B.4
Bruni, A.C.5
De Michele, G.6
Filla, A.7
Santoro, L.8
-
119
-
-
16044373842
-
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
-
Mangiarini, L.; Sathasivam, K.; Seller, M.; Cozens, B.; Harper, A.; Hetherington, C.; Lawton, M.; Trottier, Y.; Lehrach, H.; Davies, S. W.; Bates, G. P. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87(3):493-506; 1996.
-
(1996)
Cell
, vol.87
, Issue.3
, pp. 493-506
-
-
Mangiarini, L.1
Sathasivam, K.2
Seller, M.3
Cozens, B.4
Harper, A.5
Hetherington, C.6
Lawton, M.7
Trottier, Y.8
Lehrach, H.9
Davies, S.W.10
Bates, G.P.11
-
120
-
-
17844389364
-
The wide spectrum of spinocerebellar ataxias (SCAs)
-
Manto, M. U. The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum 4(1):2-6; 2005.
-
(2005)
Cerebellum
, vol.4
, Issue.1
, pp. 2-6
-
-
Manto, M.U.1
-
121
-
-
33749985102
-
Neural differentiation of human mesenchymal stem cells: Evidence for expression of neural markers and eag K+ channel types
-
Mareschi, K.; Novara, M.; Rustichelli, D.; Ferrero, I.; Guido, D.; Carbone, E.; Medico, E.; Madon, E.; Vercelli, A.; Fagioli, F. Neural differentiation of human mesenchymal stem cells: Evidence for expression of neural markers and eag K+ channel types. Exp. Hematol. 34(11):1563-1572; 2006.
-
(2006)
Exp. Hematol.
, vol.34
, Issue.11
, pp. 1563-1572
-
-
Mareschi, K.1
Novara, M.2
Rustichelli, D.3
Ferrero, I.4
Guido, D.5
Carbone, E.6
Medico, E.7
Madon, E.8
Vercelli, A.9
Fagioli, F.10
-
122
-
-
84878926416
-
Pharmacological protein targets in polyglutamine diseases: Mutant polypeptides and their interactors
-
Margulis, B. A.; Vigont, V.; Lazarev, V. F.; Kaznacheyeva, E. V.; Guzhova, I. V. Pharmacological protein targets in polyglutamine diseases: Mutant polypeptides and their interactors. FEBS Lett. 587(13):1997-2007; 2013.
-
(2013)
FEBS Lett.
, vol.587
, Issue.13
, pp. 1997-2007
-
-
Margulis, B.A.1
Vigont, V.2
Lazarev, V.F.3
Kaznacheyeva, E.V.4
Guzhova, I.V.5
-
123
-
-
33646773982
-
Allogeneic bone marrow transplantation (BMT) for refractory Behcet's disease with severe CNS involvement
-
Marmont, A. M.; Gualandi, F.; Piaggio, G.; Podesta, M.; Teresa van Lint, M.; Bacigalupo, A.; Nobili, F. Allogeneic bone marrow transplantation (BMT) for refractory Behcet's disease with severe CNS involvement. Bone Marrow Transplant. 37(11):1061-1063; 2006.
-
(2006)
Bone Marrow Transplant.
, vol.37
, Issue.11
, pp. 1061-1063
-
-
Marmont, A.M.1
Gualandi, F.2
Piaggio, G.3
Podesta, M.4
Teresa van Lint, M.5
Bacigalupo, A.6
Nobili, F.7
-
124
-
-
0022876328
-
Huntington's disease. Pathogenesis and management
-
Martin, J. B.; Gusella, J. F. Huntington's disease. Pathogenesis and management. N. Engl. J. Med. 315(20):1267-1276; 1986.
-
(1986)
N. Engl. J. Med.
, vol.315
, Issue.20
, pp. 1267-1276
-
-
Martin, J.B.1
Gusella, J.F.2
-
125
-
-
0242382682
-
Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin
-
Martins, S.; Matama, T.; Guimaraes, L.; Vale, J.; Guimaraes, J.; Ramos, L.; Coutinho, P.; Sequeiros, J.; Silveira, I. Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin. Eur. J. Hum. Genet. 11(10):808-811; 2003.
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, Issue.10
, pp. 808-811
-
-
Martins, S.1
Matama, T.2
Guimaraes, L.3
Vale, J.4
Guimaraes, J.5
Ramos, L.6
Coutinho, P.7
Sequeiros, J.8
Silveira, I.9
-
126
-
-
65849214710
-
Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1
-
Matilla-Duenas, A.; Goold, R.; Giunti, P. Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum 7(2):106-114; 2008.
-
(2008)
Cerebellum
, vol.7
, Issue.2
, pp. 106-114
-
-
Matilla-Duenas, A.1
Goold, R.2
Giunti, P.3
-
127
-
-
77950858200
-
Mesenchymal stem cell transplantation in amyotrophic lateral sclerosis: A Phase I clinical trial
-
Mazzini, L.; Ferrero, I.; Luparello, V.; Rustichelli, D.; Gunetti, M.; Mareschi, K.; Testa, L.; Stecco, A.; Tarletti, R.; Miglioretti, M.; Fava, E.; Nasuelli, N.; Cisari, C.; Massara, M.; Vercelli, R.; Oggioni, G. D.; Carriero, A.; Cantello, R.; Monaco, F.; Fagioli, F. Mesenchymal stem cell transplantation in amyotrophic lateral sclerosis: A Phase I clinical trial. Exp. Neurol. 223(1):229-237; 2010.
-
(2010)
Exp. Neurol.
, vol.223
, Issue.1
, pp. 229-237
-
-
Mazzini, L.1
Ferrero, I.2
Luparello, V.3
Rustichelli, D.4
Gunetti, M.5
Mareschi, K.6
Testa, L.7
Stecco, A.8
Tarletti, R.9
Miglioretti, M.10
Fava, E.11
Nasuelli, N.12
Cisari, C.13
Massara, M.14
Vercelli, R.15
Oggioni, G.D.16
Carriero, A.17
Cantello, R.18
Monaco, F.19
Fagioli, F.20
more..
-
128
-
-
8244246428
-
Reduced penetrance of the Huntington's disease mutation
-
McNeil, S. M.; Novelletto, A.; Srinidhi, J.; Barnes, G.; Kornbluth, I.; Altherr, M. R.; Wasmuth, J. J.; Gusella, J. F.; MacDonald, M. E.; Myers, R. H. Reduced penetrance of the Huntington's disease mutation. Hum. Mol. Genet. 6(5):775-779; 1997.
-
(1997)
Hum. Mol. Genet.
, vol.6
, Issue.5
, pp. 775-779
-
-
McNeil, S.M.1
Novelletto, A.2
Srinidhi, J.3
Barnes, G.4
Kornbluth, I.5
Altherr, M.R.6
Wasmuth, J.J.7
Gusella, J.F.8
McDonald, M.E.9
Myers, R.H.10
-
129
-
-
74249103961
-
Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3
-
Menzies, F. M.; Huebener, J.; Renna, M.; Bonin, M.; Riess, O.; Rubinsztein, D. C. Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. Brain 133(Pt 1):93-104; 2010.
-
(2010)
Brain
, vol.133
, Issue.PART 1
, pp. 93-104
-
-
Menzies, F.M.1
Huebener, J.2
Renna, M.3
Bonin, M.4
Riess, O.5
Rubinsztein, D.C.6
-
130
-
-
84866550924
-
Autophagy and misfolded proteins in neurodegeneration
-
Metcalf, D. J.; Garcia-Arencibia, M.; Hochfeld, W. E.; Rubinsztein, D. C. Autophagy and misfolded proteins in neurodegeneration. Exp. Neurol. 238(1):22-28; 2012.
-
(2012)
Exp. Neurol.
, vol.238
, Issue.1
, pp. 22-28
-
-
Metcalf, D.J.1
Garcia-Arencibia, M.2
Hochfeld, W.E.3
Rubinsztein, D.C.4
-
131
-
-
74749106336
-
Are cognitive and behavioural deficits a part of the clinical picture in Kennedy's disease? A case study
-
Mirowska-Guzel, D.; Seniow, J.; Sulek, A.; Lesniak, M.; Czlonkowska, A. Are cognitive and behavioural deficits a part of the clinical picture in Kennedy's disease? A case study. Neurocase 15(4):332-337; 2009.
-
(2009)
Neurocase
, vol.15
, Issue.4
, pp. 332-337
-
-
Mirowska-Guzel, D.1
Seniow, J.2
Sulek, A.3
Lesniak, M.4
Czlonkowska, A.5
-
132
-
-
0037154229
-
Requirement of an intact microtubule cytoskeleton for aggregation and inclusion body formation by a mutant huntingtin fragment
-
Muchowski, P. J.; Ning, K.; D'Souza-Schorey, C.; Fields, S. Requirement of an intact microtubule cytoskeleton for aggregation and inclusion body formation by a mutant huntingtin fragment. Proc. Natl. Acad. Sci. USA 99(2): 727-732; 2002.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, Issue.2
, pp. 727-732
-
-
Muchowski, P.J.1
Ning, K.2
D'Souza-Schorey, C.3
Fields, S.4
-
133
-
-
28444472442
-
Transplanted human embryonic germ cellderived neural stem cells replace neurons and oligodendrocytes in the forebrain of neonatal mice with excitotoxic brain damage
-
Mueller, D.; Shamblott, M. J.; Fox, H. E.; Gearhart, J. D.; Martin, L. J. Transplanted human embryonic germ cellderived neural stem cells replace neurons and oligodendrocytes in the forebrain of neonatal mice with excitotoxic brain damage. J. Neurosci. Res. 82(5):592-608; 2005.
-
(2005)
J. Neurosci. Res.
, vol.82
, Issue.5
, pp. 592-608
-
-
Mueller, D.1
Shamblott, M.J.2
Fox, H.E.3
Gearhart, J.D.4
Martin, L.J.5
-
134
-
-
2942566388
-
Severe cerebral white matter involvement in a case of dentatorubropallidoluysian atrophy studied at autopsy
-
Munoz, E.; Campdelacreu, J.; Ferrer, I.; Rey, M. J.; Cardozo, A.; Gomez, B.; Tolosa, E. Severe cerebral white matter involvement in a case of dentatorubropallidoluysian atrophy studied at autopsy. Arch. Neurol. 61(6):946-949; 2004.
-
(2004)
Arch. Neurol.
, vol.61
, Issue.6
, pp. 946-949
-
-
Munoz, E.1
Campdelacreu, J.2
Ferrer, I.3
Rey, M.J.4
Cardozo, A.5
Gomez, B.6
Tolosa, E.7
-
135
-
-
80051951102
-
FAT10 protein binds to polyglutamine proteins and modulates their solubility
-
Nagashima, Y.; Kowa, H.; Tsuji, S.; Iwata, A. FAT10 protein binds to polyglutamine proteins and modulates their solubility. J. Biol. Chem. 286(34):29594-29600; 2011.
-
(2011)
J. Biol. Chem.
, vol.286
, Issue.34
, pp. 29594-29600
-
-
Nagashima, Y.1
Kowa, H.2
Tsuji, S.3
Iwata, A.4
-
136
-
-
0020064620
-
Familial myoclonus epilepsy and choreoathetosis: Hereditary dentatorubral-pallidoluysian atrophy
-
Naito, H.; Oyanagi, S. Familial myoclonus epilepsy and choreoathetosis: Hereditary dentatorubral-pallidoluysian atrophy. Neurology 32(8):798-807; 1982.
-
(1982)
Neurology
, vol.32
, Issue.8
, pp. 798-807
-
-
Naito, H.1
Oyanagi, S.2
-
137
-
-
58749086706
-
Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin
-
Nakamura, K.; Yoshida, K.; Miyazaki, D.; Morita, H.; Ikeda, S. Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin. J. Neurol. Sci. 278(1-2):107-111; 2009.
-
(2009)
J. Neurol. Sci.
, vol.278
, Issue.1-2
, pp. 107-111
-
-
Nakamura, K.1
Yoshida, K.2
Miyazaki, D.3
Morita, H.4
Ikeda, S.5
-
138
-
-
0015251021
-
Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts
-
Nakano, K. K.; Dawson, D. M.; Spence, A. Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 22(1):49-55; 1972.
-
(1972)
Neurology
, vol.22
, Issue.1
, pp. 49-55
-
-
Nakano, K.K.1
Dawson, D.M.2
Spence, A.3
-
139
-
-
15844414681
-
Epidemiological and genetic studies of Huntington's disease in the San-in area of Japan
-
Nakashima, K.; Watanabe, Y.; Kusumi, M.; Nanba, E.; Maeoka, Y.; Nakagawa, M.; Igo, M.; Irie, H.; Ishino, H.; Fujimoto, A.; Goto, J.; Takahashi, K. Epidemiological and genetic studies of Huntington's disease in the San-in area of Japan. Neuroepidemiology 15(3):126-131; 1996.
-
(1996)
Neuroepidemiology
, vol.15
, Issue.3
, pp. 126-131
-
-
Nakashima, K.1
Watanabe, Y.2
Kusumi, M.3
Nanba, E.4
Maeoka, Y.5
Nakagawa, M.6
Igo, M.7
Irie, H.8
Ishino, H.9
Fujimoto, A.10
Goto, J.11
Takahashi, K.12
-
140
-
-
0029055717
-
Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes
-
Nasir, J.; Floresco, S. B.; O'Kusky, J. R.; Diewert, V. M.; Richman, J. M.; Zeisler, J.; Borowski, A.; Marth, J. D.; Phillips, A. G.; Hayden, M. R. Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81(5):811-823; 1995.
-
(1995)
Cell
, vol.81
, Issue.5
, pp. 811-823
-
-
Nasir, J.1
Floresco, S.B.2
O'Kusky, J.R.3
Diewert, V.M.4
Richman, J.M.5
Zeisler, J.6
Borowski, A.7
Marth, J.D.8
Phillips, A.G.9
Hayden, M.R.10
-
141
-
-
84875464498
-
Enhanced aggregation of androgen receptor in induced pluripotent stem cellderived neurons from spinal and bulbar muscular atrophy
-
Nihei, Y.; Ito, D.; Okada, Y.; Akamatsu, W.; Yagi, T.; Yoshizaki, T.; Okano, H.; Suzuki, N. Enhanced aggregation of androgen receptor in induced pluripotent stem cellderived neurons from spinal and bulbar muscular atrophy. J. Biol. Chem. 288(12):8043-8052; 2013.
-
(2013)
J. Biol. Chem.
, vol.288
, Issue.12
, pp. 8043-8052
-
-
Nihei, Y.1
Ito, D.2
Okada, Y.3
Akamatsu, W.4
Yagi, T.5
Yoshizaki, T.6
Okano, H.7
Suzuki, N.8
-
142
-
-
0037631378
-
Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity
-
Nucifora, Jr., F. C.; Ellerby, L. M.; Wellington, C. L.; Wood, J. D.; Herring, W. J.; Sawa, A.; Hayden, M. R.; Dawson, V. L.; Dawson, T. M.; Ross, C. A. Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity. J. Biol. Chem. 278(15):13047-13055; 2003.
-
(2003)
J. Biol. Chem.
, vol.278
, Issue.15
, pp. 13047-13055
-
-
Nucifora Jr., F.C.1
Ellerby, L.M.2
Wellington, C.L.3
Wood, J.D.4
Herring, W.J.5
Sawa, A.6
Hayden, M.R.7
Dawson, V.L.8
Dawson, T.M.9
Ross, C.A.10
-
143
-
-
0030248408
-
Development of neuronal precursor cells and functional postmitotic neurons from embryonic stem cells in vitro
-
Okabe, S.; Forsberg-Nilsson, K.; Spiro, A. C.; Segal, M.; McKay, R. D. Development of neuronal precursor cells and functional postmitotic neurons from embryonic stem cells in vitro. Mech. Dev. 59(1):89-102; 1996.
-
(1996)
Mech. Dev.
, vol.59
, Issue.1
, pp. 89-102
-
-
Okabe, S.1
Forsberg-Nilsson, K.2
Spiro, A.C.3
Segal, M.4
McKay, R.D.5
-
144
-
-
34547692622
-
Trinucleotide repeat disorders
-
Orr, H. T.; Zoghbi, H. Y. Trinucleotide repeat disorders. Annu. Rev. Neurosci. 30:575-621; 2007.
-
(2007)
Annu. Rev. Neurosci.
, vol.30
, pp. 575-621
-
-
Orr, H.T.1
Zoghbi, H.Y.2
-
145
-
-
0030798569
-
Spinobulbar muscular atrophy can mimic ALS: The importance of genetic testing in male patients with atypical ALS
-
Parboosingh, J. S.; Figlewicz, D. A.; Krizus, A.; Meininger, V.; Azad, N. A.; Newman, D. S.; Rouleau, G. A. Spinobulbar muscular atrophy can mimic ALS: The importance of genetic testing in male patients with atypical ALS. Neurology 49(2):568-572; 1997.
-
(1997)
Neurology
, vol.49
, Issue.2
, pp. 568-572
-
-
Parboosingh, J.S.1
Figlewicz, D.A.2
Krizus, A.3
Meininger, V.4
Azad, N.A.5
Newman, D.S.6
Rouleau, G.A.7
-
146
-
-
50549089957
-
Disease-specific induced pluripotent stem cells
-
Park, I. H.; Arora, N.; Huo, H.; Maherali, N.; Ahfeldt, T.; Shimamura, A.; Lensch, M. W.; Cowan, C.; Hochedlinger, K.; Daley, G. Q. Disease-specific induced pluripotent stem cells. Cell 34(5):877-886; 2008.
-
(2008)
Cell
, vol.34
, Issue.5
, pp. 877-886
-
-
Park, I.H.1
Arora, N.2
Huo, H.3
Maherali, N.4
Ahfeldt, T.5
Shimamura, A.6
Lensch, M.W.7
Cowan, C.8
Hochedlinger, K.9
Daley, G.Q.10
-
147
-
-
0025651104
-
Epidemiologic approach to Huntington's disease in northern Italy (Ferrara area)
-
Pavoni, M.; Granieri, E.; Govoni, V.; Pavoni, V.; Del Senno, L.; Mapelli, G. Epidemiologic approach to Huntington's disease in northern Italy (Ferrara area). Neuroepidemiology 9(6):306-314; 1990.
-
(1990)
Neuroepidemiology
, vol.9
, Issue.6
, pp. 306-314
-
-
Pavoni, M.1
Granieri, E.2
Govoni, V.3
Pavoni, V.4
Del Senno, L.5
Mapelli, G.6
-
148
-
-
0028797080
-
Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy
-
Potter, N. T.; Meyer, M. A.; Zimmerman, A. W.; Eisenstadt, M. L.; Anderson, I. J. Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy. Ann. Neurol. 37(2):273-277; 1995.
-
(1995)
Ann. Neurol.
, vol.37
, Issue.2
, pp. 273-277
-
-
Potter, N.T.1
Meyer, M.A.2
Zimmerman, A.W.3
Eisenstadt, M.L.4
Anderson, I.J.5
-
149
-
-
14544284039
-
Incidence and mutation rates of Huntington's disease in Spain: Experience of 9 years of direct genetic testing
-
Ramos-Arroyo, M. A.; Moreno, S.; Valiente, A. Incidence and mutation rates of Huntington's disease in Spain: Experience of 9 years of direct genetic testing. J. Neurol. Neurosurg. Psychiatry 76(3):337-342; 2005.
-
(2005)
J. Neurol. Neurosurg. Psychiatry
, vol.76
, Issue.3
, pp. 337-342
-
-
Ramos-Arroyo, M.A.1
Moreno, S.2
Valiente, A.3
-
150
-
-
17644383664
-
Lentiviral-mediated silencing of SOD1 through RNA interference retards disease onset and progression in a mouse model of ALS
-
Raoul, C.; Abbas-Terki, T.; Bensadoun, J. C.; Guillot, S.; Haase, G.; Szulc, J.; Henderson, C. E.; Aebischer, P. Lentiviral-mediated silencing of SOD1 through RNA interference retards disease onset and progression in a mouse model of ALS. Nat. Med. 11(4):423-428; 2005.
-
(2005)
Nat. Med.
, vol.11
, Issue.4
, pp. 423-428
-
-
Raoul, C.1
Abbas-Terki, T.2
Bensadoun, J.C.3
Guillot, S.4
Haase, G.5
Szulc, J.6
Henderson, C.E.7
Aebischer, P.8
-
151
-
-
17344367977
-
Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA
-
Reddy, P. H.; Williams, M.; Charles, V.; Garrett, L.; Pike-Buchanan, L.; Whetsell, Jr., W. O.; Miller, G.; Tagle, D. A. Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. Nat. Genet. 20(2):198-202; 1998.
-
(1998)
Nat. Genet.
, vol.20
, Issue.2
, pp. 198-202
-
-
Reddy, P.H.1
Williams, M.2
Charles, V.3
Garrett, L.4
Pike-Buchanan, L.5
Whetsell Jr., W.O.6
Miller, G.7
Tagle, D.A.8
-
152
-
-
0034101804
-
Embryonic stem cell lines from human blastocysts: Somatic differentiation in vitro
-
Reubinoff, B. E.; Pera, M. F.; Fong, C. Y.; Trounson, A.; Bongso, A. Embryonic stem cell lines from human blastocysts: Somatic differentiation in vitro. Nat. Biotechnol. 18(4):399-404; 2000.
-
(2000)
Nat. Biotechnol.
, vol.18
, Issue.4
, pp. 399-404
-
-
Reubinoff, B.E.1
Pera, M.F.2
Fong, C.Y.3
Trounson, A.4
Bongso, A.5
-
153
-
-
48249145755
-
Long-term clinical and positron emission tomography outcome of fetal striatal transplantation in Huntington's disease
-
Reuter, I.; Tai, Y. F.; Pavese, N.; Chaudhuri, K.R.; Mason, S.; Polkey, C. E.; Clough, C.; Brooks, D. J.; Barker, R. A.; Piccini, P. Long-term clinical and positron emission tomography outcome of fetal striatal transplantation in Huntington's disease. J. Neurol. Neurosurg. Psychiatry 79(8):948-951; 2008.
-
(2008)
J. Neurol. Neurosurg. Psychiatry
, vol.79
, Issue.8
, pp. 948-951
-
-
Reuter, I.1
Tai, Y.F.2
Pavese, N.3
Chaudhuri, K.R.4
Mason, S.5
Polkey, C.E.6
Clough, C.7
Brooks, D.J.8
Barker, R.A.9
Piccini, P.10
-
154
-
-
0026526516
-
A multipotent EGF-responsive striatal embryonic progenitor cell produces neurons and astrocytes
-
Reynolds, B. A.; Tetzlaff, W.; Weiss, S. A multipotent EGF-responsive striatal embryonic progenitor cell produces neurons and astrocytes. J. Neurosci. 12(11):4565-4574; 1992.
-
(1992)
J. Neurosci.
, vol.12
, Issue.11
, pp. 4565-4574
-
-
Reynolds, B.A.1
Tetzlaff, W.2
Weiss, S.3
-
155
-
-
80054850792
-
Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease)
-
Rocchi, C.; Greco, V.; Urbani, A.; Di, G. A.; Priori, M.; Massa, R.; Bernardi, G.; Marfia, G. A. Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease). Muscle Nerve 44(5):737-740; 2011.
-
(2011)
Muscle Nerve
, vol.44
, Issue.5
, pp. 737-740
-
-
Rocchi, C.1
Greco, V.2
Urbani, A.3
Di, G.A.4
Priori, M.5
Massa, R.6
Bernardi, G.7
Marfia, G.A.8
-
156
-
-
0042837890
-
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
-
Rolfs, A.; Koeppen, A. H.; Bauer, I.; Bauer, P.; Buhlmann, S.; Topka, H.; Schols, L.; Riess, O. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann. Neurol. 54(3):367-375; 2003.
-
(2003)
Ann. Neurol.
, vol.54
, Issue.3
, pp. 367-375
-
-
Rolfs, A.1
Koeppen, A.H.2
Bauer, I.3
Bauer, P.4
Buhlmann, S.5
Topka, H.6
Schols, L.7
Riess, O.8
-
157
-
-
0017689205
-
Azorean disease of the nervous system
-
Romanul, F. C.; Fowler, H. L.; Radvany, J.; Feldman, R. G.; Feingold, M. Azorean disease of the nervous system. N. Engl. J. Med. 296(26):1505-1508; 1977.
-
(1977)
N. Engl. J. Med.
, vol.296
, Issue.26
, pp. 1505-1508
-
-
Romanul, F.C.1
Fowler, H.L.2
Radvany, J.3
Feldman, R.G.4
Feingold, M.5
-
158
-
-
78650278301
-
Huntington's disease: A clinical review
-
Roos, R. A. Huntington's disease: A clinical review. Orphanet J. Rare. Dis. 5(1):40; 2010.
-
(2010)
Orphanet J. Rare. Dis.
, vol.5
, Issue.1
, pp. 40
-
-
Roos, R.A.1
-
159
-
-
80053563760
-
Induction of autophagy with catalytic mTOR inhibitors reduces huntingtin aggregates in a neuronal cell model
-
Roscic, A.; Baldo, B.; Crochemore, C.; Marcellin, D.; Paganetti, P. Induction of autophagy with catalytic mTOR inhibitors reduces huntingtin aggregates in a neuronal cell model. J. Neurochem. 119(2):398-407; 2011.
-
(2011)
J. Neurochem.
, vol.119
, Issue.2
, pp. 398-407
-
-
Roscic, A.1
Baldo, B.2
Crochemore, C.3
Marcellin, D.4
Paganetti, P.5
-
160
-
-
0017117382
-
Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder
-
Rosenberg, R. N.; Nyhan, W. L.; Bay, C.; Shore, P. Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 26(8):703-714; 1976.
-
(1976)
Neurology
, vol.26
, Issue.8
, pp. 703-714
-
-
Rosenberg, R.N.1
Nyhan, W.L.2
Bay, C.3
Shore, P.4
-
161
-
-
0141646604
-
Predictors of neuropathological severity in 100 patients with Huntington's disease
-
Rosenblatt, A.; Abbott, M. H.; Gourley, L. M.; Troncoso, J. C.; Margolis, R. L.; Brandt, J.; Ross, C. A. Predictors of neuropathological severity in 100 patients with Huntington's disease. Ann. Neurol. 54(4):488-493; 2003.
-
(2003)
Ann. Neurol.
, vol.54
, Issue.4
, pp. 488-493
-
-
Rosenblatt, A.1
Abbott, M.H.2
Gourley, L.M.3
Troncoso, J.C.4
Margolis, R.L.5
Brandt, J.6
Ross, C.A.7
-
162
-
-
78650031174
-
Huntington's disease: From molecular pathogenesis to clinical treatment
-
Ross, C. A.; Tabrizi, S. J. Huntington's disease: From molecular pathogenesis to clinical treatment. Lancet Neurol. 10(1):83-98; 2011.
-
(2011)
Lancet Neurol.
, vol.10
, Issue.1
, pp. 83-98
-
-
Ross, C.A.1
Tabrizi, S.J.2
-
163
-
-
0033930711
-
The morphological development of neurons derived from EGF-and FGF-2-driven human CNS precursors depends on their site of integration in the neonatal rat brain
-
Rosser, A. E.; Tyers, P.; Dunnett, S. B. The morphological development of neurons derived from EGF-and FGF-2-driven human CNS precursors depends on their site of integration in the neonatal rat brain. Eur. J. Neurosci. 12(7):2405-2413; 2000.
-
(2000)
Eur. J. Neurosci.
, vol.12
, Issue.7
, pp. 2405-2413
-
-
Rosser, A.E.1
Tyers, P.2
Dunnett, S.B.3
-
164
-
-
42649118505
-
New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease)
-
Rub, U.; Brunt, E. R.; Deller, T. New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease). Curr. Opin. Neurol. 21(2):111-116; 2008.
-
(2008)
Curr. Opin. Neurol.
, vol.21
, Issue.2
, pp. 111-116
-
-
Rub, U.1
Brunt, E.R.2
Deller, T.3
-
165
-
-
84876783597
-
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7
-
Rub, U.; Schols, L.; Paulson, H.; Auburger, G.; Kermer, P.; Jen, J. C.; Seidel, K.; Korf, H. W.; Deller, T. Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7. Prog. Neurobiol. 104:38-66; 2013.
-
(2013)
Prog. Neurobiol.
, vol.104
, pp. 38-66
-
-
Rub, U.1
Schols, L.2
Paulson, H.3
Auburger, G.4
Kermer, P.5
Jen, J.C.6
Seidel, K.7
Korf, H.W.8
Deller, T.9
-
166
-
-
0036181925
-
Spinocerebellar ataxia type 2 (SCA2) associated with retinal pigmentary degeneration
-
Rufa, A.; Dotti, M. T.; Galli, L.; Orrico, A.; Sicurelli, F.; Federico, A. Spinocerebellar ataxia type 2 (SCA2) associated with retinal pigmentary degeneration. Eur. Neurol. 47(2):128-129; 2002.
-
(2002)
Eur. Neurol.
, vol.47
, Issue.2
, pp. 128-129
-
-
Rufa, A.1
Dotti, M.T.2
Galli, L.3
Orrico, A.4
Sicurelli, F.5
Federico, A.6
-
167
-
-
0037059042
-
Molecular chaperones as modulators of polyglutamine protein aggregation and toxicity
-
Sakahira, H.; Breuer, P.; Hayer-Hartl, M. K.; Hartl, F. U. Molecular chaperones as modulators of polyglutamine protein aggregation and toxicity. Proc. Natl. Acad. Sci. USA 99(Suppl 4):16412-16418; 2002.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, Issue.SUPPL. 4
, pp. 16412-16418
-
-
Sakahira, H.1
Breuer, P.2
Hayer-Hartl, M.K.3
Hartl, F.U.4
-
168
-
-
33749245856
-
Neuronal atrophy and synaptic alteration in a mouse model of dentatorubral-pallidoluysian atrophy
-
Sakai, K.; Yamada, M.; Sato, T.; Yamada, M.; Tsuji, S.; Takahashi, H. Neuronal atrophy and synaptic alteration in a mouse model of dentatorubral-pallidoluysian atrophy. Brain 129(Pt 9):2353-2362; 2006.
-
(2006)
Brain
, vol.129
, Issue.PART 9
, pp. 2353-2362
-
-
Sakai, K.1
Yamada, M.2
Sato, T.3
Yamada, M.4
Tsuji, S.5
Takahashi, H.6
-
169
-
-
9044227266
-
Clinical features and natural history of spinocerebellar ataxia type 1
-
Sasaki, H.; Fukazawa, T.; Yanagihara, T.; Hamada, T.; Shima, K.; Matsumoto, A.; Hashimoto, K.; Ito, N.; Wakisaka, A.; Tashiro, K. Clinical features and natural history of spinocerebellar ataxia type 1. Acta Neurol. Scand. 93(1):64-71; 1996.
-
(1996)
Acta Neurol. Scand.
, vol.93
, Issue.1
, pp. 64-71
-
-
Sasaki, H.1
Fukazawa, T.2
Yanagihara, T.3
Hamada, T.4
Shima, K.5
Matsumoto, A.6
Hashimoto, K.7
Ito, N.8
Wakisaka, A.9
Tashiro, K.10
-
170
-
-
58949099401
-
Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice
-
Sato, T.; Miura, M.; Yamada, M.; Yoshida, T.; Wood, J. D.; Yazawa, I.; Masuda, M.; Suzuki, T.; Shin, R. M.; Yau, H. J.; Liu, F. C.; Shimohata, T.; Onodera, O.; Ross, C. A.; Katsuki, M.; Takahashi, H.; Kano, M.; Aosaki, T.; Tsuji, S. Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice. Hum. Mol. Genet. 18(4):723-736; 2009.
-
(2009)
Hum. Mol. Genet.
, vol.18
, Issue.4
, pp. 723-736
-
-
Sato, T.1
Miura, M.2
Yamada, M.3
Yoshida, T.4
Wood, J.D.5
Yazawa, I.6
Masuda, M.7
Suzuki, T.8
Shin, R.M.9
Yau, H.J.10
Liu, F.C.11
Shimohata, T.12
Onodera, O.13
Ross, C.A.14
Katsuki, M.15
Takahashi, H.16
Kano, M.17
Aosaki, T.18
Tsuji, S.19
-
171
-
-
0032907359
-
Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients
-
Sato, T.; Oyake, M.; Nakamura, K.; Nakao, K.; Fukusima, Y.; Onodera, O.; Igarashi, S.; Takano, H.; Kikugawa, K.; Ishida, Y.; Shimohata, T.; Koide, R.; Ikeuchi, T.; Tanaka, H.; Futamura, N.; Matsumura, R.; Takayanagi, T.; Tanaka, F.; Sobue, G.; Komure, O.; Takahashi, M.; Sano, A.; Ichikawa, Y.; Goto, J.; Kanazawa, I.; Katsuki, M.; Tsuji, S. Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients. Hum. Mol. Genet. 8(1):99-106; 1999.
-
(1999)
Hum. Mol. Genet.
, vol.8
, Issue.1
, pp. 99-106
-
-
Sato, T.1
Oyake, M.2
Nakamura, K.3
Nakao, K.4
Fukusima, Y.5
Onodera, O.6
Igarashi, S.7
Takano, H.8
Kikugawa, K.9
Ishida, Y.10
Shimohata, T.11
Koide, R.12
Ikeuchi, T.13
Tanaka, H.14
Futamura, N.15
Matsumura, R.16
Takayanagi, T.17
Tanaka, F.18
Sobue, G.19
Komure, O.20
Takahashi, M.21
Sano, A.22
Ichikawa, Y.23
Goto, J.24
Kanazawa, I.25
Katsuki, M.26
Tsuji, S.27
more..
-
172
-
-
0009744392
-
Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA
-
Schilling, G.; Wood, J. D.; Duan, K.; Slunt, H. H.; Gonzales, V.; Yamada, M.; Cooper, J. K.; Margolis, R. L.; Jenkins, N. A.; Copeland, N. G.; Takahashi, H.; Tsuji, S.; Price, D. L.; Borchelt, D. R.; Ross, C. A. Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA. Neuron 24(1):275-286; 1999.
-
(1999)
Neuron
, vol.24
, Issue.1
, pp. 275-286
-
-
Schilling, G.1
Wood, J.D.2
Duan, K.3
Slunt, H.H.4
Gonzales, V.5
Yamada, M.6
Cooper, J.K.7
Margolis, R.L.8
Jenkins, N.A.9
Copeland, N.G.10
Takahashi, H.11
Tsuji, S.12
Price, D.L.13
Borchelt, D.R.14
Ross, C.A.15
-
173
-
-
0037056302
-
Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women
-
Schmidt, B. J.; Greenberg, C. R.; Allingham-Hawkins, D. J.; Spriggs, E. L. Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology 59(5):770-772; 2002.
-
(2002)
Neurology
, vol.59
, Issue.5
, pp. 770-772
-
-
Schmidt, B.J.1
Greenberg, C.R.2
Allingham-Hawkins, D.J.3
Spriggs, E.L.4
-
174
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
Schols, L.; Bauer, P.; Schmidt, T.; Schulte, T.; Riess, O. Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis. Lancet Neurol. 3(5):291-304; 2004.
-
(2004)
Lancet Neurol.
, vol.3
, Issue.5
, pp. 291-304
-
-
Schols, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
175
-
-
70349962976
-
Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6
-
Schulz, J. B.; Borkert, J.; Wolf, S.; Schmitz-Hubsch, T.; Rakowicz, M.; Mariotti, C.; Schols, L.; Timmann, D.; van de Warrenburg, B.; Durr, A.; Pandolfo, M.; Kang, J. S.; Mandly, A. G.; Nagele, T.; Grisoli, M.; Boguslawska, R.; Bauer, P.; Klockgether, T.; Hauser, T. K. Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage 49(1):158-168; 2010.
-
(2010)
Neuroimage
, vol.49
, Issue.1
, pp. 158-168
-
-
Schulz, J.B.1
Borkert, J.2
Wolf, S.3
Schmitz-Hubsch, T.4
Rakowicz, M.5
Mariotti, C.6
Schols, L.7
Timmann, D.8
van de Warrenburg, B.9
Durr, A.10
Pandolfo, M.11
Kang, J.S.12
Mandly, A.G.13
Nagele, T.14
Grisoli, M.15
Boguslawska, R.16
Bauer, P.17
Klockgether, T.18
Hauser, T.K.19
-
176
-
-
34948845308
-
Proteasome activator enhances survival of Huntington's disease neuronal model cells
-
Seo, H.; Sonntag, K. C.; Kim, W.; Cattaneo, E.; Isacson, O. Proteasome activator enhances survival of Huntington's disease neuronal model cells. PLoS One 2(2):e238; 2007.
-
(2007)
PLoS One
, vol.2
, Issue.2
-
-
Seo, H.1
Sonntag, K.C.2
Kim, W.3
Cattaneo, E.4
Isacson, O.5
-
177
-
-
79956016292
-
Huntington's and myotonic dystrophy hESCs: Down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation
-
Seriola, A.; Spits, C.; Simard, J. P.; Hilven, P.; Haentjens, P.; Pearson, C. E.; Sermon, K. Huntington's and myotonic dystrophy hESCs: Down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation. Hum. Mol. Genet. 20(1):176-185; 2011.
-
(2011)
Hum. Mol. Genet.
, vol.20
, Issue.1
, pp. 176-185
-
-
Seriola, A.1
Spits, C.2
Simard, J.P.3
Hilven, P.4
Haentjens, P.5
Pearson, C.E.6
Sermon, K.7
-
178
-
-
0032506231
-
Derivation of pluripotent stem cells from cultured human primordial germ cells
-
Shamblott, M. J.; Axelman, J.; Wang, S.; Bugg, E. M.; Littlefield, J. W.; Donovan, P. J.; Blumenthal, P. D.; Huggins, G. R.; Gearhart, J. D. Derivation of pluripotent stem cells from cultured human primordial germ cells. Proc. Natl. Acad. Sci. USA 95(23):13726-13731; 1998.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, Issue.23
, pp. 13726-13731
-
-
Shamblott, M.J.1
Axelman, J.2
Wang, S.3
Bugg, E.M.4
Littlefield, J.W.5
Donovan, P.J.6
Blumenthal, P.D.7
Huggins, G.R.8
Gearhart, J.D.9
-
179
-
-
0033818112
-
Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription
-
Shimohata, T.; Nakajima, T.; Yamada, M.; Uchida, C.; Onodera, O.; Naruse, S.; Kimura, T.; Koide, R.; Nozaki, K.; Sano, Y.; Ishiguro, H.; Sakoe, K.; Ooshima, T.; Sato, A.; Ikeuchi, T.; Oyake, M.; Sato, T.; Aoyagi, Y.; Hozumi, I.; Nagatsu, T.; Takiyama, Y.; Nishizawa, M.; Goto, J.; Kanazawa, I.; Davidson, I.; Tanese, N.; Takahashi, H.; Tsuji, S. Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription. Nat. Genet. 26(1):29-36; 2000.
-
(2000)
Nat. Genet.
, vol.26
, Issue.1
, pp. 29-36
-
-
Shimohata, T.1
Nakajima, T.2
Yamada, M.3
Uchida, C.4
Onodera, O.5
Naruse, S.6
Kimura, T.7
Koide, R.8
Nozaki, K.9
Sano, Y.10
Ishiguro, H.11
Sakoe, K.12
Ooshima, T.13
Sato, A.14
Ikeuchi, T.15
Oyake, M.16
Sato, T.17
Aoyagi, Y.18
Hozumi, I.19
Nagatsu, T.20
Takiyama, Y.21
Nishizawa, M.22
Goto, J.23
Kanazawa, I.24
Davidson, I.25
Tanese, N.26
Takahashi, H.27
Tsuji, S.28
more..
-
180
-
-
0025001261
-
Prevalence of Huntington's disease among UK immigrants from the Indian subcontinent
-
Shiwach, R. S.; Lindenbaum, R. H. Prevalence of Huntington's disease among UK immigrants from the Indian subcontinent. Br. J. Psychiatry 157:598-599; 1990.
-
(1990)
Br. J. Psychiatry
, vol.157
, pp. 598-599
-
-
Shiwach, R.S.1
Lindenbaum, R.H.2
-
181
-
-
79957748358
-
Milestones in Huntington disease
-
Shoulson, I.; Young, A. B. Milestones in Huntington disease. Mov. Disord. 26(6):1127-1133; 2011.
-
(2011)
Mov. Disord.
, vol.26
, Issue.6
, pp. 1127-1133
-
-
Shoulson, I.1
Young, A.B.2
-
182
-
-
34447550504
-
Men with Kennedy disease have a reduced risk of androgenetic alopecia
-
Sinclair, R.; Greenland, K. J.; Egmond, S.; Hoedemaker, C.; Chapman, A.; Zajac, J. D. Men with Kennedy disease have a reduced risk of androgenetic alopecia. Br. J. Dermatol. 157(2):290-294; 2007.
-
(2007)
Br. J. Dermatol.
, vol.157
, Issue.2
, pp. 290-294
-
-
Sinclair, R.1
Greenland, K.J.2
Egmond, S.3
Hoedemaker, C.4
Chapman, A.5
Zajac, J.D.6
-
183
-
-
0001294843
-
Unusual form of cerebellar ataxia: Combined dentato-rubral and pallido-Luysian degeneration
-
Smith, J. K.; Gonda, V. E.; Malamud, N. Unusual form of cerebellar ataxia: Combined dentato-rubral and pallido-Luysian degeneration. Neurology 8(3):205-209; 1958.
-
(1958)
Neurology
, vol.8
, Issue.3
, pp. 205-209
-
-
Smith, J.K.1
Gonda, V.E.2
Malamud, N.3
-
184
-
-
0027291710
-
Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy
-
Sobue, G.; Doyu, M.; Kachi, T.; Yasuda, T.; Mukai, E.; Kumagai, T.; Mitsuma, T. Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy. J. Neurol. Sci. 117(1-2):74-78; 1993.
-
(1993)
J. Neurol. Sci.
, vol.117
, Issue.1-2
, pp. 74-78
-
-
Sobue, G.1
Doyu, M.2
Kachi, T.3
Yasuda, T.4
Mukai, E.5
Kumagai, T.6
Mitsuma, T.7
-
185
-
-
0024586435
-
X-linked recessive bulbospinal neuronopathy
-
Sobue, G.; Hashizume, Y.; Mukai, E.; Hirayama, M.; Mitsuma, T.; Takahashi, A. X-linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain 112(Pt 1):209-232; 1989.
-
(1989)
A clinicopathological study. Brain
, vol.112
, Issue.PART 1
, pp. 209-232
-
-
Sobue, G.1
Hashizume, Y.2
Mukai, E.3
Hirayama, M.4
Mitsuma, T.5
Takahashi, A.6
-
186
-
-
33749557821
-
Cytotoxicity of a mutant huntingtin fragment in yeast involves early alterations in mitochondrial OXPHOS complexes II and III
-
Solans, A.; Zambrano, A.; Rodriguez, M.; Barrientos, A. Cytotoxicity of a mutant huntingtin fragment in yeast involves early alterations in mitochondrial OXPHOS complexes II and III. Hum. Mol. Genet. 15(20):3063-3081; 2006.
-
(2006)
Hum. Mol. Genet.
, vol.15
, Issue.20
, pp. 3063-3081
-
-
Solans, A.1
Zambrano, A.2
Rodriguez, M.3
Barrientos, A.4
-
187
-
-
61349100729
-
Parkinson's disease patient-derived induced pluripotent stem cells free of viral reprogramming factors
-
Soldner, F.; Hockemeyer, D.; Beard, C.; Gao, Q.; Bell, G. W.; Cook, E. G.; Hargus, G.; Blak, A.; Cooper, O.; Mitalipova, M.; Isacson, O.; Jaenisch, R. Parkinson's disease patient-derived induced pluripotent stem cells free of viral reprogramming factors. Cell 136(5):964-977; 2009.
-
(2009)
Cell
, vol.136
, Issue.5
, pp. 964-977
-
-
Soldner, F.1
Hockemeyer, D.2
Beard, C.3
Gao, Q.4
Bell, G.W.5
Cook, E.G.6
Hargus, G.7
Blak, A.8
Cooper, O.9
Mitalipova, M.10
Isacson, O.11
Jaenisch, R.12
-
188
-
-
0031977853
-
Positron emission tomography in asymptomatic gene carriers of Machado-Joseph disease
-
Soong, B. W.; Liu, R. S. Positron emission tomography in asymptomatic gene carriers of Machado-Joseph disease. J. Neurol. Neurosurg. Psychiatry 64(4):499-504; 1998.
-
(1998)
J. Neurol. Neurosurg. Psychiatry
, vol.64
, Issue.4
, pp. 499-504
-
-
Soong, B.W.1
Liu, R.S.2
-
189
-
-
13844312634
-
Laryngospasm: An underdiagnosed symptom of X-linked spinobulbar muscular atrophy
-
Sperfeld, A. D.; Hanemann, C. O.; Ludolph, A. C.; Kassubek, J. Laryngospasm: An underdiagnosed symptom of X-linked spinobulbar muscular atrophy. Neurology 64(4):753-754; 2005.
-
(2005)
Neurology
, vol.64
, Issue.4
, pp. 753-754
-
-
Sperfeld, A.D.1
Hanemann, C.O.2
Ludolph, A.C.3
Kassubek, J.4
-
190
-
-
0036894940
-
X-linked bulbospinal neuronopathy: Kennedy disease
-
Sperfeld, A. D.; Karitzky, J.; Brummer, D.; Schreiber, H.; Haussler, J.; Ludolph, A. C.; Hanemann, C. O. X-linked bulbospinal neuronopathy: Kennedy disease. Arch. Neurol. 59(12):1921-1926; 2002.
-
(2002)
Arch. Neurol.
, vol.59
, Issue.12
, pp. 1921-1926
-
-
Sperfeld, A.D.1
Karitzky, J.2
Brummer, D.3
Schreiber, H.4
Haussler, J.5
Ludolph, A.C.6
Hanemann, C.O.7
-
191
-
-
12944263711
-
The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription
-
Steffan, J. S.; Kazantsev, A.; Spasic-Boskovic, O.; Greenwald, M.; Zhu, Y. Z.; Gohler, H.; Wanker, E. E.; Bates, G. P.; Housman, D. E.; Thompson, L. M. The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc. Natl. Acad. Sci. USA 97(12):6763-6768; 2000.
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, Issue.12
, pp. 6763-6768
-
-
Steffan, J.S.1
Kazantsev, A.2
Spasic-Boskovic, O.3
Greenwald, M.4
Zhu, Y.Z.5
Gohler, H.6
Wanker, E.E.7
Bates, G.P.8
Housman, D.E.9
Thompson, L.M.10
-
192
-
-
65849116838
-
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4)
-
Stevanin, G.; Brice, A. Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). Cerebellum 7(2): 170-178; 2008.
-
(2008)
Cerebellum
, vol.7
, Issue.2
, pp. 170-178
-
-
Stevanin, G.1
Brice, A.2
-
193
-
-
0343416801
-
Clinical and molecular features of spinocerebellar ataxia type 6
-
Stevanin, G.; Durr, A.; David, G.; Didierjean, O.; Cancel, G.; Rivaud, S.; Tourbah, A.; Warter, J. M.; Agid, Y.; Brice, A. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 49(5):1243-1246; 1997.
-
(1997)
Neurology
, vol.49
, Issue.5
, pp. 1243-1246
-
-
Stevanin, G.1
Durr, A.2
David, G.3
Didierjean, O.4
Cancel, G.5
Rivaud, S.6
Tourbah, A.7
Warter, J.M.8
Agid, Y.9
Brice, A.10
-
195
-
-
0037408279
-
Transcriptional abnormalities in Huntington disease
-
Sugars, K. L.; Rubinsztein, D. C. Transcriptional abnormalities in Huntington disease. Trends Genet. 19(5):233-238; 2003.
-
(2003)
Trends Genet.
, vol.19
, Issue.5
, pp. 233-238
-
-
Sugars, K.L.1
Rubinsztein, D.C.2
-
196
-
-
37549036991
-
CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA
-
Suzuki, K.; Katsuno, M.; Banno, H.; Takeuchi, Y.; Atsuta, N.; Ito, M.; Watanabe, H.; Yamashita, F.; Hori, N.; Nakamura, T.; Hirayama, M.; Tanaka, F.; Sobue, G. CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA. Brain 131(Pt 1):229-239; 2008.
-
(2008)
Brain
, vol.131
, Issue.PART 1
, pp. 229-239
-
-
Suzuki, K.1
Katsuno, M.2
Banno, H.3
Takeuchi, Y.4
Atsuta, N.5
Ito, M.6
Watanabe, H.7
Yamashita, F.8
Hori, N.9
Nakamura, T.10
Hirayama, M.11
Tanaka, F.12
Sobue, G.13
-
197
-
-
0031265935
-
Long-term survival of human central nervous system progenitor cells transplanted into a rat model of Parkinson's disease
-
Svendsen, C. N.; Caldwell, M. A.; Shen, J.; ter Borg, M. G.; Rosser, A. E.; Tyers, P.; Karmiol, S.; Dunnett, S. B. Long-term survival of human central nervous system progenitor cells transplanted into a rat model of Parkinson's disease. Exp. Neurol. 148(1):135-146; 1997.
-
(1997)
Exp. Neurol.
, vol.148
, Issue.1
, pp. 135-146
-
-
Svendsen, C.N.1
Caldwell, M.A.2
Shen, J.3
ter Borg, M.G.4
Rosser, A.E.5
Tyers, P.6
Karmiol, S.7
Dunnett, S.B.8
-
198
-
-
0032231668
-
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations
-
Takano, H.; Cancel, G.; Ikeuchi, T.; Lorenzetti, D.; Mawad, R.; Stevanin, G.; Didierjean, O.; Durr, A.; Oyake, M.; Shimohata, T.; Sasaki, R.; Koide, R.; Igarashi, S.; Hayashi, S.; Takiyama, Y.; Nishizawa, M.; Tanaka, H.; Zoghbi, H.; Brice, A.; Tsuji, S. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am. J. Hum. Genet. 63(4):1060-1066; 1998.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, Issue.4
, pp. 1060-1066
-
-
Takano, H.1
Cancel, G.2
Ikeuchi, T.3
Lorenzetti, D.4
Mawad, R.5
Stevanin, G.6
Didierjean, O.7
Durr, A.8
Oyake, M.9
Shimohata, T.10
Sasaki, R.11
Koide, R.12
Igarashi, S.13
Hayashi, S.14
Takiyama, Y.15
Nishizawa, M.16
Tanaka, H.17
Zoghbi, H.18
Brice, A.19
Tsuji, S.20
more..
-
199
-
-
84863738736
-
Current status of treatment of spinal and bulbar muscular atrophy
-
Tanaka, F.; Katsuno, M.; Banno, H.; Suzuki, K.; Adachi, H.; Sobue, G. Current status of treatment of spinal and bulbar muscular atrophy. Neural Plast. 2012:369284; 2012.
-
(2012)
Neural Plast.
, vol.2012
, pp. 369284
-
-
Tanaka, F.1
Katsuno, M.2
Banno, H.3
Suzuki, K.4
Adachi, H.5
Sobue, G.6
-
200
-
-
1642633757
-
Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease
-
Tanaka, M.; Machida, Y.; Niu, S.; Ikeda, T.; Jana, N. R.; Doi, H.; Kurosawa, M.; Nekooki, M.; Nukina, N. Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease. Nat. Med. 10(2):148-154; 2004.
-
(2004)
Nat. Med.
, vol.10
, Issue.2
, pp. 148-154
-
-
Tanaka, M.1
McHida, Y.2
Niu, S.3
Ikeda, T.4
Jana, N.R.5
Doi, H.6
Kurosawa, M.7
Nekooki, M.8
Nukina, N.9
-
201
-
-
0034093161
-
Frequency of SCA1, SCA2, SCA3/ MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds
-
Tang, B.; Liu, C.; Shen, L.; Dai, H.; Pan, Q.; Jing, L.; Ouyang, S.; Xia, J. Frequency of SCA1, SCA2, SCA3/ MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch. Neurol. 57(4): 540-544; 2000.
-
(2000)
Arch. Neurol.
, vol.57
, Issue.4
, pp. 540-544
-
-
Tang, B.1
Liu, C.2
Shen, L.3
Dai, H.4
Pan, Q.5
Jing, L.6
Ouyang, S.7
Xia, J.8
-
202
-
-
0037077040
-
Toxic proteins in neurodegenerative disease
-
Taylor, J. P.; Hardy, J.; Fischbeck, K. H. Toxic proteins in neurodegenerative disease. Science 296(5575):1991-1995; 2002.
-
(2002)
Science
, vol.296
, Issue.5575
, pp. 1991-1995
-
-
Taylor, J.P.1
Hardy, J.2
Fischbeck, K.H.3
-
203
-
-
84864628471
-
Induced pluripotent stem cells from patients with Huntington's disease show CAGrepeat-expansion-associated phenotypes
-
The HD iPSC Consortium
-
The HD iPSC Consortium. Induced pluripotent stem cells from patients with Huntington's disease show CAGrepeat-expansion-associated phenotypes. Cell Stem Cell 11(2):264-278; 2012.
-
(2012)
Cell Stem Cell
, vol.11
, Issue.2
, pp. 264-278
-
-
-
204
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group
-
The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72(6):971-983; 1993.
-
(1993)
Cell
, vol.72
, Issue.6
, pp. 971-983
-
-
-
205
-
-
0032491416
-
Embryonic stem cell lines derived from human blastocysts
-
Thomson, J. A.; Itskovitz-Eldor, J.; Shapiro, S. S.; Waknitz, M. A.; Swiergiel, J. J.; Marshall, V. S.; Jones, J. M. Embryonic stem cell lines derived from human blastocysts. Science 282(5391):1145-1147; 1998.
-
(1998)
Science
, vol.282
, Issue.5391
, pp. 1145-1147
-
-
Thomson, J.A.1
Itskovitz-Eldor, J.2
Shapiro, S.S.3
Waknitz, M.A.4
Swiergiel, J.J.5
Marshall, V.S.6
Jones, J.M.7
-
206
-
-
0038159253
-
Parkin facilitates the elimination of expanded polyglutamine proteins and leads to preservation of proteasome function
-
Tsai, Y. C.; Fishman, P. S.; Thakor, N. V.; Oyler, G. A. Parkin facilitates the elimination of expanded polyglutamine proteins and leads to preservation of proteasome function. J. Biol. Chem. 278(24):22044-22055; 2003.
-
(2003)
J. Biol. Chem.
, vol.278
, Issue.24
, pp. 22044-22055
-
-
Tsai, Y.C.1
Fishman, P.S.2
Thakor, N.V.3
Oyler, G.A.4
-
207
-
-
65849376966
-
Sporadic ataxias in Japan-A population-based epidemiological study
-
Tsuji, S.; Onodera, O.; Goto, J.; Nishizawa, M. Sporadic ataxias in Japan-A population-based epidemiological study. Cerebellum 7(2):189-197; 2008.
-
(2008)
Cerebellum
, vol.7
, Issue.2
, pp. 189-197
-
-
Tsuji, S.1
Onodera, O.2
Goto, J.3
Nishizawa, M.4
-
208
-
-
0345688817
-
Derivation of human embryonic germ cells: An alternative source of pluripotent stem cells
-
Turnpenny, L.; Brickwood, S.; Spalluto, C. M.; Piper, K.; Cameron, I. T.; Wilson, D. I.; Hanley, N. A. Derivation of human embryonic germ cells: An alternative source of pluripotent stem cells. Stem Cells 21(5):598-609; 2003.
-
(2003)
Stem Cells
, vol.21
, Issue.5
, pp. 598-609
-
-
Turnpenny, L.1
Brickwood, S.2
Spalluto, C.M.3
Piper, K.4
Cameron, I.T.5
Wilson, D.I.6
Hanley, N.A.7
-
209
-
-
0030307015
-
X-linked recessive spinal and bulbar muscular atrophy. Kennedy syndrome
-
Udd, B.; Holmgren, G. [X-linked recessive spinal and bulbar muscular atrophy. Kennedy syndrome]. Duodecim 112(3):218-219; 1996.
-
(1996)
Duodecim
, vol.112
, Issue.3
, pp. 218-219
-
-
Udd, B.1
Holmgren, G.2
-
210
-
-
78650754334
-
Culture media for the differentiation of mesenchymal stromal cells
-
Vater, C.; Kasten, P.; Stiehler, M. Culture media for the differentiation of mesenchymal stromal cells. Acta Biomater. 7(2):463-477; 2011.
-
(2011)
Acta Biomater.
, vol.7
, Issue.2
, pp. 463-477
-
-
Vater, C.1
Kasten, P.2
Stiehler, M.3
-
211
-
-
73649147404
-
Open-labeled study of unilateral autologous bone-marrow-derived mesenchymal stem cell transplantation in Parkinson's disease
-
Venkataramana, N. K.; Kumar, S. K.; Balaraju, S.; Radhakrishnan, R. C.; Bansal, A.; Dixit, A.; Rao, D. K.; Das, M.; Jan, M.; Gupta, P. K.; Totey, S. M. Open-labeled study of unilateral autologous bone-marrow-derived mesenchymal stem cell transplantation in Parkinson's disease. Transl. Res. 155(2):62-70; 2010.
-
(2010)
Transl. Res.
, vol.155
, Issue.2
, pp. 62-70
-
-
Venkataramana, N.K.1
Kumar, S.K.2
Balaraju, S.3
Radhakrishnan, R.C.4
Bansal, A.5
Dixit, A.6
Rao, D.K.7
Das, M.8
Jan, M.9
Gupta, P.K.10
Totey, S.M.11
-
212
-
-
77649162059
-
Direct conversion of fibroblasts to functional neurons by defined factors
-
Vierbuchen, T.; Ostermeier, A.; Pang, Z. P.; Kokubu, Y.; Sudhof, T. C.; Wernig, M. Direct conversion of fibroblasts to functional neurons by defined factors. Nature 463(7284):1035-1041; 2010.
-
(2010)
Nature
, vol.463
, Issue.7284
, pp. 1035-1041
-
-
Vierbuchen, T.1
Ostermeier, A.2
Pang, Z.P.3
Kokubu, Y.4
Sudhof, T.C.5
Wernig, M.6
-
214
-
-
33846225133
-
Huntington's disease
-
Walker, F. O. Huntington's disease. Lancet 369(9557):218-228; 2007.
-
(2007)
Lancet
, vol.369
, Issue.9557
, pp. 218-228
-
-
Walker, F.O.1
-
215
-
-
69549088142
-
Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic
-
Wang, Y. G.; Du, J.; Wang, J. L.; Chen, J.; Chen, C.; Luo, Y. Y.; Xiao, Z. Q.; Jiang, H.; Yan, X. X.; Xia, K.; Pan, Q.; Tang, B. S.; Shen, L. Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic. J. Neurol. Sci. 285(1-2):121-124; 2009.
-
(2009)
J. Neurol. Sci.
, vol.285
, Issue.1-2
, pp. 121-124
-
-
Wang, Y.G.1
Du, J.2
Wang, J.L.3
Chen, J.4
Chen, C.5
Luo, Y.Y.6
Xiao, Z.Q.7
Jiang, H.8
Yan, X.X.9
Xia, K.10
Pan, Q.11
Tang, B.S.12
Shen, L.13
-
216
-
-
34249675397
-
Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model
-
Watase, K.; Gatchel, J. R.; Sun, Y.; Emamian, E.; Atkinson, R.; Richman, R.; Mizusawa, H.; Orr, H. T.; Shaw, C.; Zoghbi, H. Y. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med. 4(5):e182; 2007.
-
(2007)
PLoS Med.
, vol.4
, Issue.5
-
-
Watase, K.1
Gatchel, J.R.2
Sun, Y.3
Emamian, E.4
Atkinson, R.5
Richman, R.6
Mizusawa, H.7
Orr, H.T.8
Shaw, C.9
Zoghbi, H.Y.10
-
217
-
-
27144503120
-
17-AAG, an Hsp90 inhibitor, ameliorates polyglutaminemediated motor neuron degeneration
-
Waza, M.; Adachi, H.; Katsuno, M.; Minamiyama, M.; Sang, C.; Tanaka, F.; Inukai, A.; Doyu, M.; Sobue, G. 17-AAG, an Hsp90 inhibitor, ameliorates polyglutaminemediated motor neuron degeneration. Nat. Med. 11(10): 1088-1095; 2005.
-
(2005)
Nat. Med.
, vol.11
, Issue.10
, pp. 1088-1095
-
-
Waza, M.1
Adachi, H.2
Katsuno, M.3
Minamiyama, M.4
Sang, C.5
Tanaka, F.6
Inukai, A.7
Doyu, M.8
Sobue, G.9
-
218
-
-
0037047320
-
Directed differentiation of embryonic stem cells into motor neurons
-
Wichterle, H.; Lieberam, I.; Porter, J. A.; Jessell, T. M. Directed differentiation of embryonic stem cells into motor neurons. Cell 110(3):385-397; 2002.
-
(2002)
Cell
, vol.110
, Issue.3
, pp. 385-397
-
-
Wichterle, H.1
Lieberam, I.2
Porter, J.A.3
Jessell, T.M.4
-
219
-
-
79955660764
-
An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice
-
Wilburn, B.; Rudnicki, D. D.; Zhao, J.; Weitz, T. M.; Cheng, Y.; Gu, X.; Greiner, E.; Park, C. S.; Wang, N.; Sopher, B. L.; La Spada, A. R.; Osmand, A.; Margolis, R. L.; Sun, Y. E.; Yang, X. W. An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. Neuron 70(3):427-440; 2011.
-
(2011)
Neuron
, vol.70
, Issue.3
, pp. 427-440
-
-
Wilburn, B.1
Rudnicki, D.D.2
Zhao, J.3
Weitz, T.M.4
Cheng, Y.5
Gu, X.6
Greiner, E.7
Park, C.S.8
Wang, N.9
Sopher, B.L.10
La Spada, A.R.11
Osmand, A.12
Margolis, R.L.13
Sun, Y.E.14
Yang, X.W.15
-
220
-
-
0015412724
-
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity
-
Woods, B. T.; Schaumburg, H. H. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity. J. Neurol. Sci. 17(2):149-166; 1972.
-
(1972)
J. Neurol. Sci.
, vol.17
, Issue.2
, pp. 149-166
-
-
Woods, B.T.1
Schaumburg, H.H.2
-
221
-
-
10744231577
-
Genetic testing in spinocerebellar ataxia in Taiwan: Expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease
-
Wu, Y. R.; Lin, H. Y.; Chen, C. M.; Gwinn-Hardy, K.; Ro, L. S.; Wang, Y. C.; Li, S. H.; Hwang, J. C.; Fang, K.; Hsieh-Li, H. M.; Li, M. L.; Tung, L. C.; Su, M. T.; Lu, K. T.; Lee-Chen, G. J. Genetic testing in spinocerebellar ataxia in Taiwan: Expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. Clin. Genet. 65(3):209-214; 2004.
-
(2004)
Clin. Genet.
, vol.65
, Issue.3
, pp. 209-214
-
-
Wu, Y.R.1
Lin, H.Y.2
Chen, C.M.3
Gwinn-Hardy, K.4
Ro, L.S.5
Wang, Y.C.6
Li, S.H.7
Hwang, J.C.8
Fang, K.9
Hsieh-Li, H.M.10
Li, M.L.11
Tung, L.C.12
Su, M.T.13
Lu, K.T.14
Lee-Chen, G.J.15
-
222
-
-
23844432617
-
Dopamine transporter positron emission tomography in spinocerebellar ataxias type 1, 2, 3, and 6
-
Wullner, U.; Reimold, M.; Abele, M.; Burk, K.; Minnerop, M.; Dohmen, B. M.; Machulla, H. J.; Bares, R.; Klockgether, T. Dopamine transporter positron emission tomography in spinocerebellar ataxias type 1, 2, 3, and 6. Arch. Neurol. 62(8):1280-1285; 2005.
-
(2005)
Arch. Neurol.
, vol.62
, Issue.8
, pp. 1280-1285
-
-
Wullner, U.1
Reimold, M.2
Abele, M.3
Burk, K.4
Minnerop, M.5
Dohmen, B.M.6
McHulla, H.J.7
Bares, R.8
Klockgether, T.9
-
223
-
-
36949022900
-
CAG repeat disorder models and human neuropathology: Similarities and differences
-
Yamada, M.; Sato, T.; Tsuji, S.; Takahashi, H. CAG repeat disorder models and human neuropathology: Similarities and differences. Acta Neuropathol. 115(1):71-86; 2008.
-
(2008)
Acta Neuropathol.
, vol.115
, Issue.1
, pp. 71-86
-
-
Yamada, M.1
Sato, T.2
Tsuji, S.3
Takahashi, H.4
-
224
-
-
9444220784
-
Sharing of polyglutamine localization by the neuronal nucleus and cytoplasm in CAG-repeat diseases
-
Yamada, M.; Tan, C. F.; Inenaga, C.; Tsuji, S.; Takahashi, H. Sharing of polyglutamine localization by the neuronal nucleus and cytoplasm in CAG-repeat diseases. Neuropathol. Appl. Neurobiol. 30(6):665-675; 2004.
-
(2004)
Neuropathol. Appl. Neurobiol.
, vol.30
, Issue.6
, pp. 665-675
-
-
Yamada, M.1
Tan, C.F.2
Inenaga, C.3
Tsuji, S.4
Takahashi, H.5
-
225
-
-
0035112686
-
Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy
-
Yamada, M.; Wood, J. D.; Shimohata, T.; Hayashi, S.; Tsuji, S.; Ross, C. A.; Takahashi, H. Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy. Ann. Neurol. 49(1):14-23; 2001.
-
(2001)
Ann. Neurol.
, vol.49
, Issue.1
, pp. 14-23
-
-
Yamada, M.1
Wood, J.D.2
Shimohata, T.3
Hayashi, S.4
Tsuji, S.5
Ross, C.A.6
Takahashi, H.7
-
226
-
-
9044236911
-
A unique origin and multistep process for the generation of expanded DRPLA triplet repeats
-
Yanagisawa, H.; Fujii, K.; Nagafuchi, S.; Nakahori, Y.; Nakagome, Y.; Akane, A.; Nakamura, M.; Sano, A.; Komure, O.; Kondo, I.; Jin, D. K.; Sorensen, S. A.; Potter, N. T.; Young, S. R.; Nakamura, K.; Nukina, N.; Nagao, Y.; Tadokoro, K.; Okuyama, T.; Miyashita, T.; Inoue, T.; Kanazawa, I.; Yamada, M. A unique origin and multistep process for the generation of expanded DRPLA triplet repeats. Hum. Mol. Genet. 5(3):373-379; 1996.
-
(1996)
Hum. Mol. Genet.
, vol.5
, Issue.3
, pp. 373-379
-
-
Yanagisawa, H.1
Fujii, K.2
Nagafuchi, S.3
Nakahori, Y.4
Nakagome, Y.5
Akane, A.6
Nakamura, M.7
Sano, A.8
Komure, O.9
Kondo, I.10
Jin, D.K.11
Sorensen, S.A.12
Potter, N.T.13
Young, S.R.14
Nakamura, K.15
Nukina, N.16
Nagao, Y.17
Tadokoro, K.18
Okuyama, T.19
Miyashita, T.20
Inoue, T.21
Kanazawa, I.22
Yamada, M.23
more..
-
227
-
-
0032497248
-
Expanded glutamine repeat enhances complex formation of dentatorubral-pallidoluysian atrophy (DRPLA) protein in human brains
-
Yazawa, I.; Hazeki, N.; Kanazawa, I. Expanded glutamine repeat enhances complex formation of dentatorubral-pallidoluysian atrophy (DRPLA) protein in human brains. Biochem. Biophys. Res. Commun. 250(1):22-26; 1998.
-
(1998)
Biochem. Biophys. Res. Commun.
, vol.250
, Issue.1
, pp. 22-26
-
-
Yazawa, I.1
Hazeki, N.2
Kanazawa, I.3
-
228
-
-
0029015557
-
Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain
-
Yazawa, I.; Nukina, N.; Hashida, H.; Goto, J.; Yamada, M.; Kanazawa, I. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nat. Genet. 10(1):99-103; 1995.
-
(1995)
Nat. Genet.
, vol.10
, Issue.1
, pp. 99-103
-
-
Yazawa, I.1
Nukina, N.2
Hashida, H.3
Goto, J.4
Yamada, M.5
Kanazawa, I.6
-
229
-
-
33744965475
-
Sodium butyrate ameliorates histone hypoacetylation and neurodegenerative phenotypes in a mouse model for DRPLA
-
Ying, M.; Xu, R.; Wu, X.; Zhu, H.; Zhuang, Y.; Han, M.; Xu, T. Sodium butyrate ameliorates histone hypoacetylation and neurodegenerative phenotypes in a mouse model for DRPLA. J. Biol. Chem. 281(18):12580-12586; 2006.
-
(2006)
J. Biol. Chem.
, vol.281
, Issue.18
, pp. 12580-12586
-
-
Ying, M.1
Xu, R.2
Wu, X.3
Zhu, H.4
Zhuang, Y.5
Han, M.6
Xu, T.7
-
230
-
-
0037421691
-
SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity
-
Yoo, S. Y.; Pennesi, M. E.; Weeber, E. J.; Xu, B.; Atkinson, R.; Chen, S.; Armstrong, D. L.; Wu, S. M.; Sweatt, J. D.; Zoghbi, H. Y. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron 37(3):383-401; 2003.
-
(2003)
Neuron
, vol.37
, Issue.3
, pp. 383-401
-
-
Yoo, S.Y.1
Pennesi, M.E.2
Weeber, E.J.3
Xu, B.4
Atkinson, R.5
Chen, S.6
Armstrong, D.L.7
Wu, S.M.8
Sweatt, J.D.9
Zoghbi, H.Y.10
-
231
-
-
36749043230
-
Induced pluripotent stem cell lines derived from human somatic cells
-
Yu, J.; Vodyanik, M. A.; Smuga-Otto, K.; Ntosiewicz-Bourget, J.; Frane, J. L.; Tian, S.; Nie, J.; Jonsdottir, G. A.; Ruotti, V.; Stewart, R.; Slukvin, I. I.; Thomson, J. A. Induced pluripotent stem cell lines derived from human somatic cells. Science 318(5858):1917-1920; 2007.
-
(2007)
Science
, vol.318
, Issue.5858
, pp. 1917-1920
-
-
Yu, J.1
Vodyanik, M.A.2
Smuga-Otto, K.3
Ntosiewicz-Bourget, J.4
Frane, J.L.5
Tian, S.6
Nie, J.7
Jonsdottir, G.A.8
Ruotti, V.9
Stewart, R.10
Slukvin, I.I.11
Thomson, J.A.12
-
232
-
-
0034641891
-
Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice
-
Yvert, G.; Lindenberg, K. S.; Picaud, S.; Landwehrmeyer, G. B.; Sahel, J. A.; Mandel, J. L. Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. Hum. Mol. Genet. 9(17):2491-2506; 2000.
-
(2000)
Hum. Mol. Genet.
, vol.9
, Issue.17
, pp. 2491-2506
-
-
Yvert, G.1
Lindenberg, K.S.2
Picaud, S.3
Landwehrmeyer, G.B.4
Sahel, J.A.5
Mandel, J.L.6
-
233
-
-
84993912315
-
Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue
-
Zeitlin, S.; Liu, J. P.; Chapman, D. L.; Papaioannou, V. E.; Efstratiadis, A. Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat. Genet. 11(2):155-163; 1995.
-
(1995)
Nat. Genet.
, vol.11
, Issue.2
, pp. 155-163
-
-
Zeitlin, S.1
Liu, J.P.2
Chapman, D.L.3
Papaioannou, V.E.4
Efstratiadis, A.5
-
234
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
-
Zhuchenko, O.; Bailey, J.; Bonnen, P.; Ashizawa, T.; Stockton, D. W.; Amos, C.; Dobyns, W. B.; Subramony, S. H.; Zoghbi, H. Y.; Lee, C. C. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat. Genet. 15(1):62-69; 1997.
-
(1997)
Nat. Genet.
, vol.15
, Issue.1
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
Dobyns, W.B.7
Subramony, S.H.8
Zoghbi, H.Y.9
Lee, C.C.10
-
235
-
-
0032824836
-
Polyglutamine diseases: Protein cleavage and aggregation
-
Zoghbi, H. Y.; Orr, H. T. Polyglutamine diseases: Protein cleavage and aggregation. Curr. Opin. Neurobiol. 9(5): 566-570; 1999.
-
(1999)
Curr. Opin. Neurobiol.
, vol.9
, Issue.5
, pp. 566-570
-
-
Zoghbi, H.Y.1
Orr, H.T.2
-
236
-
-
77955643169
-
Molecular mechanisms and potential therapeutical targets in Huntington's disease
-
Zuccato, C.; Valenza, M.; Cattaneo, E. Molecular mechanisms and potential therapeutical targets in Huntington's disease. Physiol Rev. 90(3):905-981; 2010.
-
(2010)
Physiol Rev.
, vol.90
, Issue.3
, pp. 905-981
-
-
Zuccato, C.1
Valenza, M.2
Cattaneo, E.3
|