-
1
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman, R.J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B. and Hagerman, P.J. (2001) Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology, 57, 127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.J.9
-
2
-
-
0036846189
-
Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
-
Brunberg, J.A., Jacquemont, S., Hagerman, R.J., Berry-Kravis, E.M., Grigsby, J., Leehey, M.A., Tassone, F., Brown, W.T., Greco, C.M. and Hagerman, P.J. (2002) Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. Am. J. Neuroradiol., 23, 1757-1766.
-
(2002)
Am. J. Neuroradiol.
, vol.23
, pp. 1757-1766
-
-
Brunberg, J.A.1
Jacquemont, S.2
Hagerman, R.J.3
Berry-Kravis, E.M.4
Grigsby, J.5
Leehey, M.A.6
Tassone, F.7
Brown, W.T.8
Greco, C.M.9
Hagerman, P.J.10
-
3
-
-
0037229944
-
The fragile X premutation presenting as essential tremor
-
Leehey, M.A., Munhoz, R.P., Lang, A.E., Brunberg, JA., Grigsby, J., Greco, C., Jacquemont, S., Tassone, F., Lozano, A.M., Hagerman, P.J. et al. (2003) The fragile X premutation presenting as essential tremor. Arch. Neurol., 60, 117-121.
-
(2003)
Arch. Neurol.
, vol.60
, pp. 117-121
-
-
Leehey, M.A.1
Munhoz, R.P.2
Lang, A.E.3
Brunberg, J.A.4
Grigsby, J.5
Greco, C.6
Jacquemont, S.7
Tassone, F.8
Lozano, A.M.9
Hagerman, P.J.10
-
4
-
-
0038754166
-
Tremor and ataxia in fragile X premutation carriers: Blinded videotape study
-
Berry-Kravis, E., Lewin, F., Wan, J., Leehey, M., Hagerman, R., Hagerman, P. and Goetz, C.G. (2003) Tremor and ataxia in fragile X premutation carriers: Blinded videotape study. Ann. Neurol., 53, 616-623.
-
(2003)
Ann. Neurol.
, vol.53
, pp. 616-623
-
-
Berry-Kravis, E.1
Lewin, F.2
Wan, J.3
Leehey, M.4
Hagerman, R.5
Hagerman, P.6
Goetz, C.G.7
-
5
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
-
Jacquemont, S., Hagerman, R.J., Leehey, M., Grigsby, J., Zhang, L., Brunberg, J.A., Greco, C., Des Portes, V., Jardini, T., Levine, R. et al. (2003) Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. Am. J Hum. Genet., 72, 869-878.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 869-878
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
Grigsby, J.4
Zhang, L.5
Brunberg, J.A.6
Greco, C.7
Des Portes, V.8
Jardini, T.9
Levine, R.10
-
6
-
-
12144289389
-
Aging in individuals with the FMR1 mutation
-
Jacquemont, S., Farzin, F., Hall, D., Leehey, M., Tassone, F., Gane, L., Zhang, L., Grigsby, J., Jardini, T., Lewin, F. et al. (2004) Aging in individuals with the FMR1 mutation. Am. J Ment. Retard., 109, 154-164.
-
(2004)
Am. J. Ment. Retard.
, vol.109
, pp. 154-164
-
-
Jacquemont, S.1
Farzin, F.2
Hall, D.3
Leehey, M.4
Tassone, F.5
Gane, L.6
Zhang, L.7
Grigsby, J.8
Jardini, T.9
Lewin, F.10
-
7
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont, S., Hagerman, R.J., Leehey, M.A., Hall, D.A., Levine, R.A., Brunberg, J.A., Zhang, L., Jardini, T., Gane, L.W., Harris, S.W. et al. (2004) Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA, 291, 460-469.
-
(2004)
JAMA
, vol.291
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
Hall, D.A.4
Levine, R.A.5
Brunberg, J.A.6
Zhang, L.7
Jardini, T.8
Gane, L.W.9
Harris, S.W.10
-
8
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco, C.M., Hagerman, R.J., Tassone, F., Chudley, A.E., Del Bigio, M.R., Jacquemont, S., Leehey, M. and Hagerman, P.J. (2002) Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain, 125, 1760-1771.
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
Chudley, A.E.4
Del Bigio, M.R.5
Jacquemont, S.6
Leehey, M.7
Hagerman, P.J.8
-
9
-
-
28744441257
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
in press
-
Greco, C., Berman, R., Martin, R., Tassone, F., Schwartz, P., Brunberg, J., Grigsby, J., Hessl, D., Becker, E., Papazian, J. et al. (2005) Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain, in press.
-
(2005)
Brain
-
-
Greco, C.1
Berman, R.2
Martin, R.3
Tassone, F.4
Schwartz, P.5
Brunberg, J.6
Grigsby, J.7
Hessl, D.8
Becker, E.9
Papazian, J.10
-
10
-
-
23944431645
-
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Tassone, F., Iwahashi, C. and Hagerman, P.J. (2004) FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol., 1, 103-105.
-
(2004)
RNA Biol.
, vol.1
, pp. 103-105
-
-
Tassone, F.1
Iwahashi, C.2
Hagerman, P.J.3
-
11
-
-
0004166950
-
-
(eds) 3rd edn, The Johns Hopkins University Press, Baltimore
-
Hagerman, R.J. and Hagerman, P.J. (eds) (2002) Fragile X Syndrome: Diagnosis, Treatment, and Research. 3rd edn, The Johns Hopkins University Press, Baltimore.
-
(2002)
Fragile X Syndrome: Diagnosis, Treatment, and Research
-
-
Hagerman, R.J.1
Hagerman, P.J.2
-
12
-
-
0033940157
-
Elevated levels of FMRl mRNA in carrier males: A new mechanism of involvement in fragile X syndrome
-
Tassone, F., Hagerman, R.J., Taylor, A.K., Gane, L.W., Godfrey, T.E. and Hagerman, P.J. (2000) Elevated levels of FMRl mRNA in carrier males: A new mechanism of involvement in fragile X syndrome. Am. J Hum. Genet., 66, 6-15.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 6-15
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Gane, L.W.4
Godfrey, T.E.5
Hagerman, P.J.6
-
13
-
-
0034526068
-
Transcription of the FMR1 gene in individuals with fragile X syndrome
-
Tassone, F., Hagerman, R.J., Chamberlain, W.D. and Hagerman, P.J. (2000) Transcription of the FMR1 gene in individuals with fragile X syndrome. Am. J. Med. Genet., 97, 195-203.
-
(2000)
Am. J. Med. Genet.
, vol.97
, pp. 195-203
-
-
Tassone, F.1
Hagerman, R.J.2
Chamberlain, W.D.3
Hagerman, P.J.4
-
14
-
-
0035394437
-
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
-
Kenneson, A., Zhang, F., Hagedom, C.H. and Warren, S.T. (2001) Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum. Mol. Genet., 10, 1449-1454. heavy gene in amyotrophic lateral sclerosis (ALS). Neuroreport, 9, 3967-3970.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1449-1454
-
-
Kenneson, A.1
Zhang, F.2
Hagedorn, C.H.3
Warren, S.T.4
-
16
-
-
0041880131
-
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
-
Jin, P., Zarnescu, D.C., Zhang, F., Pearson, C.E., Lucchesi, J.C., Moses, K. and Warren, S.T. (2003) RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron, 39, 739-747.
-
(2003)
Neuron
, vol.39
, pp. 739-747
-
-
Jin, P.1
Zarnescu, D.C.2
Zhang, F.3
Pearson, C.E.4
Lucchesi, J.C.5
Moses, K.6
Warren, S.T.7
-
17
-
-
0036049412
-
Myotonic dystrophy type 2
-
Finsterer, J. (2002) Myotonic dystrophy type 2. Eur. J Neurol., 9, 441-447.
-
(2002)
Eur. J. Neurol.
, vol.9
, pp. 441-447
-
-
Finsterer, J.1
-
19
-
-
2342461060
-
Myotonic dystrophy: RNA pathogenesis comes into focus
-
Epub 2004 April 2002
-
Ranum, L.P. and Day, J.W. (2004) Myotonic dystrophy: RNA pathogenesis comes into focus. Am. J. Hum. Genet., 74, 793-804. Epub 2004 April 2002.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 793-804
-
-
Ranum, L.P.1
Day, J.W.2
-
21
-
-
0032692501
-
Alpha-synuclein immunoisolation of glial inclusions from multiple system atrophy brain tissue reveals multiprotein components
-
Gai, W.P., Power, J.H., Blumbergs, P.C., Culvenor, J.G. and Jensen, P.H. (1999) Alpha-synuclein immunoisolation ofghal inclusions from multiple system atrophy brain tissue reveals multiprotein components. J Neurochem., 73, 2093-2100.
-
(1999)
J. Neurochem.
, vol.73
, pp. 2093-2100
-
-
Gai, W.P.1
Power, J.H.2
Blumbergs, P.C.3
Culvenor, J.G.4
Jensen, P.H.5
-
22
-
-
1542574213
-
Expression of the small heat-shock protein alphaB-crystallin in tauopathies with glial pathology
-
Dabir, D.V., Trojanowski, J.Q., Richter-Landsberg, C., Lee, V.M. and Forman, M.S. (2004) Expression of the small heat-shock protein alphaB-crystallin in tauopathies with glial pathology. Am. J Pathol., 164, 155-166.
-
(2004)
Am. J. Pathol.
, vol.164
, pp. 155-166
-
-
Dabir, D.V.1
Trojanowski, J.Q.2
Richter-Landsberg, C.3
Lee, V.M.4
Forman, M.S.5
-
23
-
-
8644246567
-
Mimicking phosphorylation of the small heat-shock protein alphaB-crystallin recruits the F-box protein FBX4 to nuclear SC35 speckles
-
den Engelsman, J., Bennink, E.J., Doerwald, L., Onnekink, C., Wunderink, L., Andley, U.P., Kato, K., de Jong, W.W. and Boelens, W.C. (2004) Mimicking phosphorylation of the small heat-shock protein alphaB-crystallin recruits the F-box protein FBX4 to nuclear SC35 speckles. Eur. J Biochem., 271, 4195-4203.
-
(2004)
Eur. J. Biochem.
, vol.271
, pp. 4195-4203
-
-
den Engelsman, J.1
Bennink, E.J.2
Doerwald, L.3
Onnekink, C.4
Wunderink, L.5
Andley, U.P.6
Kato, K.7
de Jong, W.W.8
Boelens, W.C.9
-
24
-
-
7944219648
-
A-type lamins: Guardians of the soma?
-
Hutchison, C.J. and Worman, H.J. (2004) A-type lamins: Guardians of the soma? Nat. Cell Biol., 6, 1062-1067.
-
(2004)
Nat. Cell Biol.
, vol.6
, pp. 1062-1067
-
-
Hutchison, C.J.1
Worman, H.J.2
-
25
-
-
30344441794
-
Protein composition of the intranuclear inclusions of FXTAS
-
Advanced Access doi: 10.1093/brain/awhl650
-
Iwahashi, C.X., Yasui, D.H., An, H.-J., Greco, C.M., Tassone, F., Nannen, K., Babineau, B., Lebrilla, C.B., Hagerman, R.J. and Hagerman, P.J. (2005) Protein composition of the intranuclear inclusions of FXTAS. Brain, Advanced Access doi: 10.1093/brain/awhl650.
-
(2005)
Brain
-
-
Iwahashi, C.X.1
Yasui, D.H.2
An, H.-J.3
Greco, C.M.4
Tassone, F.5
Nannen, K.6
Babineau, B.7
Lebrilla, C.B.8
Hagerman, R.J.9
Hagerman, P.J.10
-
26
-
-
0033621398
-
Aberrant protein deposition and neurological disease
-
Kaytor, M.D. and Warren, S.T. (1999) Aberrant protein deposition and neurological disease. J Biol. Chem., 274, 37507-37510.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 37507-37510
-
-
Kaytor, M.D.1
Warren, S.T.2
-
27
-
-
0035139109
-
Cellular defenses against unfolded proteins: A cell biologist thinks about neurodegenerative diseases
-
Sherman, M.Y. and Goldberg, A.L. (2001) Cellular defenses against unfolded proteins: A cell biologist thinks about neurodegenerative diseases. Neuron, 29, 15-32.
-
(2001)
Neuron
, vol.29
, pp. 15-32
-
-
Sherman, M.Y.1
Goldberg, A.L.2
-
28
-
-
0036303981
-
Hassles with taking out the garbage: Aggravating aggresomes
-
Garcia-Mata, R., Gao, Y.S. and Sztul, E. (2002) Hassles with taking out the garbage: Aggravating aggresomes. Traffic, 3, 388-396.
-
(2002)
Traffic
, vol.3
, pp. 388-396
-
-
Garcia-Mata, R.1
Gao, Y.S.2
Sztul, E.3
-
29
-
-
0344668735
-
The (CGG)n repeat element within the 5′ untranslated region of the FMRI message provides both positive and negative cis effects on in vivo translation of a downstream reporter
-
Chen, L.S., Tassone, F., Sahota, P. and Hagerman, P.J. (2003) The (CGG)n repeat element within the 5′ untranslated region of the FMRI message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum. Mol. Genet., 12, 3067-3074.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 3067-3074
-
-
Chen, L.S.1
Tassone, F.2
Sahota, P.3
Hagerman, P.J.4
-
30
-
-
18144402411
-
Long CGG-repeat tracts are toxic to human cells: Implications for carriers of Fragile X premutation alleles
-
Handa, V., Goldwater, D., Stiles, D., Cam, M., Poy, G., Kumari, D. and Usdin, K. (2005) Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles. FEBS Lett., 579, 2702-2708.
-
(2005)
FEBS Lett.
, vol.579
, pp. 2702-2708
-
-
Handa, V.1
Goldwater, D.2
Stiles, D.3
Cam, M.4
Poy, G.5
Kumari, D.6
Usdin, K.7
-
31
-
-
0031912961
-
Alpha B-crystallin and hsp25 in neonatal cardiac cells - Differences in cellular localization under stress conditions
-
van de Klundert, F.A., Gijsen, M.L., van den, I.P.R., Snoeckx, L.H. and de Jong, W.W. (1998) alpha B-crystallin and hsp25 in neonatal cardiac cells - differences in cellular localization under stress conditions. Eur. J. Cell Biol., 75, 38-45.
-
(1998)
Eur. J. Cell Biol.
, vol.75
, pp. 38-45
-
-
van de Klundert, F.A.1
Gijsen, M.L.2
van den, I.P.R.3
Snoeckx, L.H.4
de Jong, W.W.5
-
32
-
-
0032818827
-
Intermediate filament interactions can be altered by HSP27 and alphaB-crystallin
-
Perng, M.D., Cairns, L., van den, I.P., Prescott, A., Hutcheson, A.M. and Quinlan, R.A. (1999) Intermediate filament interactions can be altered by HSP27 and alphaB-crystallin. J Cell Sei., 112, 2099-2112.
-
(1999)
J. Cell Sci.
, vol.112
, pp. 2099-2112
-
-
Perng, M.D.1
Cairns, L.2
van den, I.P.3
Prescott, A.4
Hutcheson, A.M.5
Quinlan, R.A.6
-
33
-
-
0000843475
-
The cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro
-
Perng, M.D., Muchowski, P.J., van Den, I.P., Wu, G.J., Hutcheson, A.M., Clark, J.I. and Quinlan, R.A. (1999) The cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro. J Biol. Chem., 274, 33235-33243.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 33235-33243
-
-
Perng, M.D.1
Muchowski, P.J.2
van Den, I.P.3
Wu, G.J.4
Hutcheson, A.M.5
Clark, J.I.6
Quinlan, R.A.7
-
34
-
-
0033853066
-
Small heat shock proteins, the cytoskeleton, and inclusion body formation
-
Head, M.W. and Goldman, J.E. (2000) Small heat shock proteins, the cytoskeleton, and inclusion body formation. Neuropathol. Appl. Neurobiol., 26, 304-312.
-
(2000)
Neuropathol. Appl. Neurobiol.
, vol.26
, pp. 304-312
-
-
Head, M.W.1
Goldman, J.E.2
-
35
-
-
4444246913
-
Heat stress-induced localization of small heat shock proteins in mouse myoblasts: Intranuclear lamin A/C speckles as target for alphaB-crystallin and Hsp25
-
Adhikari, A.S., Sridhar Rao, K., Rangaraj, N., Parnaik, VX. and Mohan Rao, C. (2004) Heat stress-induced localization of small heat shock proteins in mouse myoblasts: Intranuclear lamin A/C speckles as target for alphaB-crystallin and Hsp25. Exp. Cell Res., 299, 393-403.
-
(2004)
Exp. Cell Res.
, vol.299
, pp. 393-403
-
-
Adhikari, A.S.1
Sridhar Rao, K.2
Rangaraj, N.3
Parnaik, V.X.4
Mohan Rao, C.5
-
36
-
-
0036195722
-
Alpha-crystallin-type heat shock proteins: Socializing minichaperones in the context of a multichaperone network
-
Narberhaus, F. (2002) Alpha-crystallin-type heat shock proteins: socializing minichaperones in the context of a multichaperone network. Microbiol. Mol. Biol. Rev., 66, 64-93.
-
(2002)
Microbiol. Mol. Biol. Rev.
, vol.66
, pp. 64-93
-
-
Narberhaus, F.1
-
37
-
-
0033571984
-
AlphaB-crystallin interacts with cytoplasmic intermediate filament bundles during mitosis
-
Djabali, K., Piron, G., de Nechaud, B. and Portier, M.M. (1999) alphaB-crystallin interacts with cytoplasmic intermediate filament bundles during mitosis. Exp. Cell Res., 253, 649-662.
-
(1999)
Exp. Cell Res.
, vol.253
, pp. 649-662
-
-
Djabali, K.1
Piron, G.2
de Nechaud, B.3
Portier, M.M.4
-
38
-
-
0035476853
-
Expression of small heat shock proteins and intermediate filaments in the human optic nerve head astrocytes exposed to elevated hydrostatic pressure in vitro
-
Salvador-Silva, M., Ricard, C.S., Agapova, O.A., Yang, P. and Hernandez, M.R. (2001) Expression of small heat shock proteins and intermediate filaments in the human optic nerve head astrocytes exposed to elevated hydrostatic pressure in vitro. J. Neurosci. Res., 66, 59-73.
-
(2001)
J. Neurosci. Res.
, vol.66
, pp. 59-73
-
-
Salvador-Silva, M.1
Ricard, C.S.2
Agapova, O.A.3
Yang, P.4
Hernandez, M.R.5
-
39
-
-
0026541969
-
Alpha B crystallin expression in non-lenticular tissues and selective presence in ubiquitinated inclusion bodies in human disease
-
Lowe, J., McDermott, H., Pike, I, Spendlove, I, Landon, M. and Mayer, R.J. (1992) Alpha B crystallin expression in non-lenticular tissues and selective presence in ubiquitinated inclusion bodies in human disease. J. Pathol., 166, 61-68.
-
(1992)
J. Pathol.
, vol.166
, pp. 61-68
-
-
Lowe, J.1
McDermott, H.2
Pike, I.3
Spendlove, I.4
Landon, M.5
Mayer, R.J.6
-
40
-
-
0031887317
-
Alpha B-crystallin is associated with intermediate filaments in astrocytoma, cells
-
Wisniewski, T. and Goldman, J.E. (1998) Alpha B-crystallin is associated with intermediate filaments in astrocytoma, cells. Neurochem. Res., 23, 385-392.
-
(1998)
Neurochem. Res.
, vol.23
, pp. 385-392
-
-
Wisniewski, T.1
Goldman, J.E.2
-
41
-
-
0026483279
-
Alpha-crystallin can function as a molecular chaperone
-
Horwitz, J. (1992) Alpha-crystallin can function as a molecular chaperone. Proc. Natl Acad. Sci USA, 89, 10449-10453.
-
(1992)
Proc. Natl Acad. Sci USA
, vol.89
, pp. 10449-10453
-
-
Horwitz, J.1
-
42
-
-
0032576605
-
Aggresomes: A cellular response to misfolded proteins
-
Johnston, J.A., Ward, C.L. and Kopito, R.R. (1998) Aggresomes: A cellular response to misfolded proteins. J Cell Biol., 143, 1883-1898.
-
(1998)
J. Cell Biol.
, vol.143
, pp. 1883-1898
-
-
Johnston, J.A.1
Ward, C.L.2
Kopito, R.R.3
-
43
-
-
2942618660
-
The role of the ubiquitin-proteasomal pathway in Parkinson's disease and other neurodegenerative disorders
-
Chung, K.K., Dawson, V.L. and Dawson, T.M. (2001) The role of the ubiquitin-proteasomal pathway in Parkinson's disease and other neurodegenerative disorders. Trends. Neurosci., 24, S7-S14.
-
(2001)
Trends. Neurosci.
, vol.24
-
-
Chung, K.K.1
Dawson, V.L.2
Dawson, T.M.3
-
44
-
-
0037291986
-
Ubiquitin-dependent proteolysis in neurons
-
Klimaschewski, L. (2003) Ubiquitin-dependent proteolysis in neurons. News Physiol. Sci., 18, 29-33.
-
(2003)
News Physiol. Sci.
, vol.18
, pp. 29-33
-
-
Klimaschewski, L.1
-
45
-
-
0037215674
-
Neurological disease: UPS stops delivering!
-
Miller, R.J. and Wilson, S.M. (2003) Neurological disease: UPS stops delivering! Trends Pharmacol. Sci., 24, 18-23.
-
(2003)
Trends Pharmacol. Sci.
, vol.24
, pp. 18-23
-
-
Miller, R.J.1
Wilson, S.M.2
-
46
-
-
14644442325
-
Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization
-
Epub 2004, December 2020
-
Broers, J.L., Kuijpers, H.J., Ostlund, C., Worman, H.J., Endert, J. and Ramaekers, F.C. (2005) Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization. Exp. Cell. Res., 304, 582-592. Epub 2004, December 2020.
-
(2005)
Exp. Cell. Res.
, vol.304
, pp. 582-592
-
-
Broers, J.L.1
Kuijpers, H.J.2
Ostlund, C.3
Worman, H.J.4
Endert, J.5
Ramaekers, F.C.6
-
47
-
-
1542317663
-
Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
-
Lammerding, J., Schulze, P.C., Takahashi, T., Kozlov, S., Sullivan, T., Kamm, R.D., Stewart, C.L. and Lee, R.T. (2004) Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J. Clin. Invest., 113, 370-378.
-
(2004)
J. Clin. Invest.
, vol.113
, pp. 370-378
-
-
Lammerding, J.1
Schulze, P.C.2
Takahashi, T.3
Kozlov, S.4
Sullivan, T.5
Kamm, R.D.6
Stewart, C.L.7
Lee, R.T.8
-
48
-
-
6344241437
-
Formation of nuclear splicing factor compartments is independent of lamins AJC
-
Epub 2004, September 4908
-
Vecerova, J., Koberna, K., Malinsky, J., Soutoglou, E., Sullivan, T., Stewart, C.L., Raska, I. and Misteli, T. (2004) Formation of nuclear splicing factor compartments is independent of lamins AJC. Mol. Biol. Cell, 15, 4904-4910. Epub 2004, September 4908.
-
(2004)
Mol. Biol. Cell
, vol.15
, pp. 4904-4910
-
-
Vecerova, J.1
Koberna, K.2
Malinsky, J.3
Soutoglou, E.4
Sullivan, T.5
Stewart, C.L.6
Raska, I.7
Misteli, T.8
-
49
-
-
0036843975
-
Lamins: Building blocks or regulators of gene expression?
-
Hutchison, C.J. (2002) Lamins: Building blocks or regulators of gene expression? Nat. Rev. Mol. Cell Biol., 3, 848-858.
-
(2002)
Nat. Rev. Mol. Cell Biol.
, vol.3
, pp. 848-858
-
-
Hutchison, C.J.1
-
50
-
-
6344273968
-
Intermediate filament proteins and their associated diseases
-
Omary, M.B., Coulombe, P.A. and McLean, W.H. (2004) Intermediate filament proteins and their associated diseases. N. Engl. J Med, 351, 2087-2100.
-
(2004)
N. Engl. J. Med.
, vol.351
, pp. 2087-2100
-
-
Omary, M.B.1
Coulombe, P.A.2
McLean, W.H.3
-
51
-
-
0035697055
-
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy
-
Ostlund, C., Bonne, G., Schwartz, K. and Worman, H.J. (2001) Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. J Cell Sci., 114, 4435-4445.
-
(2001)
J. Cell Sci.
, vol.114
, pp. 4435-4445
-
-
Ostlund, C.1
Bonne, G.2
Schwartz, K.3
Worman, H.J.4
-
52
-
-
0035696932
-
Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy
-
Raharjo, W.H., Enarson, P., Sullivan, T., Stewart, C.L. and Burke, B. (2001) Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. J. Cell Sci., 114, 4447-4457.
-
(2001)
J. Cell Sci.
, vol.114
, pp. 4447-4457
-
-
Raharjo, W.H.1
Enarson, P.2
Sullivan, T.3
Stewart, C.L.4
Burke, B.5
-
53
-
-
2342555610
-
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation
-
Reichart, B., Klafke, R., Dreger, C., Kruger, E., Motsch, I, Ewald, A., Schafer, J., Reichmann, H., Muller, C.R. and Dabauvalle, M.C. (2004) Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation. BMC Cell Biol., 5, 12.
-
(2004)
BMC Cell Biol.
, vol.5
, pp. 12
-
-
Reichart, B.1
Klafke, R.2
Dreger, C.3
Kruger, E.4
Motsch, I.5
Ewald, A.6
Schafer, J.7
Reichmann, H.8
Muller, C.R.9
Dabauvalle, M.C.10
-
54
-
-
1842584782
-
Proteins that bind A-type lamins: Integrating isolated clues
-
Zastrow, M.S., Vlcek, S. and Wilson, K.L. (2004) Proteins that bind A-type lamins: Integrating isolated clues. J Cell. Sci., 117, 979-987.
-
(2004)
J. Cell. Sci.
, vol.117
, pp. 979-987
-
-
Zastrow, M.S.1
Vlcek, S.2
Wilson, K.L.3
-
55
-
-
10744221158
-
Phenotypic clustering in MPZ mutations
-
Epub 2004, January 2007
-
Shy, M.E., Jani, A., Krajewski, K., Grandis, M., Lewis, R.A., Li, J., Shy, R.R., Balsamo, J., Lilien, J., Garbern, J.Y. et al. (2004), Phenotypic clustering in MPZ mutations. Brain, 127, 371-384. Epub 2004, January 2007.
-
(2004)
Brain
, vol.127
, pp. 371-384
-
-
Shy, M.E.1
Jani, A.2
Krajewski, K.3
Grandis, M.4
Lewis, R.A.5
Li, J.6
Shy, R.R.7
Balsamo, J.8
Lilien, J.9
Garbern, J.Y.10
-
56
-
-
0010669659
-
A locus for an axonal form of autoosomal recessive Charcot-Marie-Tooth disease maps to chromosome lq2l.2-q2l.3
-
Bouhouche, A., Benomar, A., Birouk, N., Mularoni, A., Meggouh, F., Tassin, J., Grid, D., Vandenberghe, A., Yahyaoui, M., Chkili, T. et al. (1999) A locus for an axonal form of autoosomal recessive Charcot-Marie-Tooth disease maps to chromosome lq2l.2-q2l.3. Am. J Hum. Genet., 65, 722-727.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 722-727
-
-
Bouhouche, A.1
Benomar, A.2
Birouk, N.3
Mularoni, A.4
Meggouh, F.5
Tassin, J.6
Grid, D.7
Vandenberghe, A.8
Yahyaoui, M.9
Chkili, T.10
-
57
-
-
0036178210
-
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
-
Epub 2002, Jan 2017
-
De Sandre-Giovannoli, A., Chaouch, M., Kozlov, S., Vallat, J.M., Tazir, M., Kassouri, N., Szepetowski, P., Hammadouche, T., Vandenberghe, A., Stewart, C.L. et al. (2002) Homozygous defects in LMNA, encoding lamin A/ C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am. J Hum. Genet., 70, 726-736. Epub 2002, Jan 2017.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 726-736
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Kozlov, S.3
Vallat, J.M.4
Tazir, M.5
Kassouri, N.6
Szepetowski, P.7
Hammadouche, T.8
Vandenberghe, A.9
Stewart, C.L.10
-
58
-
-
9144247168
-
Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C
-
Epub 2003, November 2007
-
Tazir, M., Azzedine, H., Assami, S., Sindou, P., Nouioua, S., Zemmouri, R., Hamadouche, T., Chaouch, M., Feingold, J., Vallat, J.M. et al. (2004) Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. Brain, 127, 154-163. Epub 2003, November 2007.
-
(2004)
Brain
, vol.127
, pp. 154-163
-
-
Tazir, M.1
Azzedine, H.2
Assami, S.3
Sindou, P.4
Nouioua, S.5
Zemmouri, R.6
Hamadouche, T.7
Chaouch, M.8
Feingold, J.9
Vallat, J.M.10
-
59
-
-
23744486205
-
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients
-
Sylvius, N., Bilinska, Z.T., Veinot, J.P., Fidzianska, A., Bolongo, P.M., Poon, S., McKeown, P., Davies, R.A., Chan, K.-L., Tang, A.S.L. et al. (2005) In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. J Med. Genet., 42, 639-647.
-
(2005)
J. Med. Genet.
, vol.42
, pp. 639-647
-
-
Sylvius, N.1
Bilinska, Z.T.2
Veinot, J.P.3
Fidzianska, A.4
Bolongo, P.M.5
Poon, S.6
McKeown, P.7
Davies, R.A.8
Chan, K.-L.9
Tang, A.S.L.10
-
60
-
-
2642563501
-
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
-
Epub 2004, May 2002
-
Evgrafov, O.V., Mersiyanova, L, Irobi, J., Van Den Bosch, L., Dierick, L, Leung, C.L., Schagina, O., Verpoorten, N., Van Impe, K., Fedotov, V. et al. (2004) Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat. Genet., 36, 602-606. Epub 2004, May 2002.
-
(2004)
Nat. Genet.
, vol.36
, pp. 602-606
-
-
Evgrafov, O.V.1
Mersiyanova, L.2
Irobi, J.3
Van Den Bosch, L.4
Dierick, L.5
Leung, C.L.6
Schagina, O.7
Verpoorten, N.8
Van Impe, K.9
Fedotov, V.10
-
61
-
-
0035146907
-
Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina
-
Cohen, M., Lee, K.K., Wilson, K.L. and Gruenbaum, Y. (2001) Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina. Trends Biochem. Sci., 26, 41-47.
-
(2001)
Trends Biochem. Sci.
, vol.26
, pp. 41-47
-
-
Cohen, M.1
Lee, K.K.2
Wilson, K.L.3
Gruenbaum, Y.4
-
62
-
-
0036500259
-
Nuclear lamins: Building blocks of nuclear architecture
-
Goldman, R.D., Gruenbaum, Y., Moir, R.D., Shumaker, D.K. and Spann, T.P. (2002) Nuclear lamins: Building blocks of nuclear architecture. Genes Dev., 16, 533-547.
-
(2002)
Genes Dev.
, vol.16
, pp. 533-547
-
-
Goldman, R.D.1
Gruenbaum, Y.2
Moir, R.D.3
Shumaker, D.K.4
Spann, T.P.5
-
63
-
-
11244320353
-
The nuclear lamina comes of age
-
Gruenbaum, Y., Margalit, A., Goldman, R.D., Shumaker, D.K. and Wilson, K.L. (2005) The nuclear lamina comes of age. Nat. Rev. Mol. Cell Biol., 6, 21-31.
-
(2005)
Nat. Rev. Mol. Cell Biol.
, vol.6
, pp. 21-31
-
-
Gruenbaum, Y.1
Margalit, A.2
Goldman, R.D.3
Shumaker, D.K.4
Wilson, K.L.5
-
64
-
-
0344668735
-
The (CGG)n repeat element within the 5′ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter
-
Chen, L.S., Tassone, F., Sahota, P. and Hagerman, P.J. (2003) The (CGG)n repeat element within the 5′ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum. Mol. Genet., 12, 3067-3074.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 3067-3074
-
-
Chen, L.S.1
Tassone, F.2
Sahota, P.3
Hagerman, P.J.4
-
65
-
-
0344549791
-
Isolation and characterization of neural progenitor cells from post-mortem human cortex
-
Schwartz, P.H., Bryant, P.J., Fuja, T.J., Su, H., O'Dowd, D.K. and Klassen, H. (2003) Isolation and characterization of neural progenitor cells from post-mortem human cortex. J Neurosci. Res., 74, 838-851.
-
(2003)
J. Neurosci. Res.
, vol.74
, pp. 838-851
-
-
Schwartz, P.H.1
Bryant, P.J.2
Fuja, T.J.3
Su, H.4
O'Dowd, D.K.5
Klassen, H.6
-
66
-
-
0141920804
-
Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population
-
Garcia Arocena, D., Breece, K.E. and Hagerman, P.J. (2003) Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population. Hum. Genet., 113, 371-376.
-
(2003)
Hum. Genet.
, vol.113
, pp. 371-376
-
-
Garcia Arocena, D.1
Breece, K.E.2
Hagerman, P.J.3
-
67
-
-
0035880454
-
Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndromezbrain by laser scanning cytometry
-
LaSalle, J.M., Goldstine, J., Balmer, D. and Greco, C.M. (2001) Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndromezbrain by laser scanning cytometry. Hum. Mol. Genet., 10, 1729-1740.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1729-1740
-
-
LaSalle, J.M.1
Goldstine, J.2
Balmer, D.3
Greco, C.M.4
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