-
1
-
-
80155144126
-
Induced pluripotent stem cells (iPSCs) and neurological disease modeling: Progress and promises
-
Marchetto M. C., Brennand K. J., Boyer L. F., Gage F. H., Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises Human Molecular Genetics 2011 20 109 115
-
(2011)
Human Molecular Genetics
, vol.20
, pp. 109-115
-
-
Marchetto, M.C.1
Brennand, K.J.2
Boyer, L.F.3
Gage, F.H.4
-
2
-
-
77953879152
-
Pluripotent stem cells in neurodegenerative and neuroDevelopmental diseases
-
Marchetto M. C. N., Winner B., Gage F. H., Pluripotent stem cells in neurodegenerative and neuroDevelopmental diseases Human Molecular Genetics 2010 19 1 R71 R76
-
(2010)
Human Molecular Genetics
, vol.19
, Issue.1
-
-
Marchetto, M.C.N.1
Winner, B.2
Gage, F.H.3
-
3
-
-
79956205399
-
Impact of induced pluripotent stem cells on the study of central nervous system disease
-
Cundiff P. E., AnDerson S. A., Impact of induced pluripotent stem cells on the study of central nervous system disease Current Opinion in Genetics and Development 2011 21 3 354 361
-
(2011)
Current Opinion in Genetics and Development
, vol.21
, Issue.3
, pp. 354-361
-
-
Cundiff, P.E.1
AnDerson, S.A.2
-
4
-
-
80055028415
-
Induced pluripotent stem cells from hair follicles as a cellular model for neuroDevelopmental disorDers
-
Petit I., Kesner N. S., Karry R., Robicsek O., Aberdam E., Mller F. J., Aberdam D., Ben-Shachar D., Induced pluripotent stem cells from hair follicles as a cellular model for neuroDevelopmental disorDers Stem Cell Research 2012 8 1 134 140
-
(2012)
Stem Cell Research
, vol.8
, Issue.1
, pp. 134-140
-
-
Petit, I.1
Kesner, N.S.2
Karry, R.3
Robicsek, O.4
Aberdam, E.5
Mller, F.J.6
Aberdam, D.7
Ben-Shachar, D.8
-
5
-
-
77954137428
-
What can pluripotent stem cells teach us about neurodegenerative diseases
-
Wichterle H., Przedborski S., What can pluripotent stem cells teach us about neurodegenerative diseases Nature Neuroscience 2010 13 7 800 804
-
(2010)
Nature Neuroscience
, vol.13
, Issue.7
, pp. 800-804
-
-
Wichterle, H.1
Przedborski, S.2
-
6
-
-
79952710923
-
Induced pluripotent stem cells: A new revolution for clinical neurology?
-
Mattis V. B., Svendsen C. N., Induced pluripotent stem cells: a new revolution for clinical neurology? The Lancet Neurology 2011 10 4 383 394
-
(2011)
The Lancet Neurology
, vol.10
, Issue.4
, pp. 383-394
-
-
Mattis, V.B.1
Svendsen, C.N.2
-
7
-
-
33747195353
-
Induction of Pluripotent Stem Cells from Mouse Embryonic and Adult Fibroblast Cultures by defined Factors
-
DOI 10.1016/j.cell.2006.07.024, PII S0092867406009767
-
Takahashi K., Yamanaka S., Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors Cell 2006 126 4 663 676 (Pubitemid 44233629)
-
(2006)
Cell
, vol.126
, Issue.4
, pp. 663-676
-
-
Takahashi, K.1
Yamanaka, S.2
-
8
-
-
36248966518
-
Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by defined Factors
-
DOI 10.1016/j.cell.2007.11.019, PII S0092867407014717
-
Takahashi K., Tanabe K., Ohnuki M., Narita M., Ichisaka T., Tomoda K., Yamanaka S., Induction of pluripotent stem cells from adult human fibroblasts by defined factors Cell 2007 131 5 861 872 (Pubitemid 350138099)
-
(2007)
Cell
, vol.131
, Issue.5
, pp. 861-872
-
-
Takahashi, K.1
Tanabe, K.2
Ohnuki, M.3
Narita, M.4
Ichisaka, T.5
Tomoda, K.6
Yamanaka, S.7
-
9
-
-
38049028459
-
Generation of induced pluripotent stem cells without Myc from mouse and human fibroblasts
-
Nakagawa M., Koyanagi M., Tanabe K., Takahashi K., Ichisaka T., Aoi T., Okita K., Mochiduki Y., Takizawa N., Yamanaka S., Generation of induced pluripotent stem cells without Myc from mouse and human fibroblasts Nature Biotechnology 2008 26 1 101 106
-
(2008)
Nature Biotechnology
, vol.26
, Issue.1
, pp. 101-106
-
-
Nakagawa, M.1
Koyanagi, M.2
Tanabe, K.3
Takahashi, K.4
Ichisaka, T.5
Aoi, T.6
Okita, K.7
Mochiduki, Y.8
Takizawa, N.9
Yamanaka, S.10
-
10
-
-
39149086020
-
Induction of pluripotent stem cells from fibroblast cultures
-
Takahashi K., Okita K., Nakagawa M., Yamanaka S., Induction of pluripotent stem cells from fibroblast cultures Nature protocols 2007 2 12 3081 3089
-
(2007)
Nature Protocols
, vol.2
, Issue.12
, pp. 3081-3089
-
-
Takahashi, K.1
Okita, K.2
Nakagawa, M.3
Yamanaka, S.4
-
11
-
-
52649173218
-
Induced pluripotent stem (iPS) cells as in vitro models of human neurogenetic disorDers
-
Chamberlain S. J., Li X. J., Lalande M., Induced pluripotent stem (iPS) cells as in vitro models of human neurogenetic disorDers Neurogenetics 2008 9 4 227 235
-
(2008)
Neurogenetics
, vol.9
, Issue.4
, pp. 227-235
-
-
Chamberlain, S.J.1
Li, X.J.2
Lalande, M.3
-
12
-
-
84858153178
-
Induced pluripotent stem cell lines from Huntington's disease mice unDergo neuronal differentiation while showing alterations in the lysosomal pathway
-
Castiglioni V., Onorati M., Rochon C., Cattaneo E., Induced pluripotent stem cell lines from Huntington's disease mice unDergo neuronal differentiation while showing alterations in the lysosomal pathway Neurobiology of Disease 2012 46 1 30 40
-
(2012)
Neurobiology of Disease
, vol.46
, Issue.1
, pp. 30-40
-
-
Castiglioni, V.1
Onorati, M.2
Rochon, C.3
Cattaneo, E.4
-
13
-
-
79955572417
-
Harnessing the potential of induced pluripotent stem cells for regenerative medicine
-
Wu S. M., Hochedlinger K., Harnessing the potential of induced pluripotent stem cells for regenerative medicine Nature Cell Biology 2011 13 5 497 505
-
(2011)
Nature Cell Biology
, vol.13
, Issue.5
, pp. 497-505
-
-
Wu, S.M.1
Hochedlinger, K.2
-
14
-
-
79955479900
-
Human induced pluripotent stem cells: The past, present, and future
-
Hussein S. M. I., Nagy K., Nagy A., Human induced pluripotent stem cells: the past, present, and future Clinical Pharmacology and Therapeutics 2011 89 5 741 745
-
(2011)
Clinical Pharmacology and Therapeutics
, vol.89
, Issue.5
, pp. 741-745
-
-
Hussein, S.M.I.1
Nagy, K.2
Nagy, A.3
-
15
-
-
79961160557
-
Inducing iPSCs to escape the dish
-
Barrilleaux B., Knoepfler P. S., Inducing iPSCs to escape the dish Cell Stem Cell 2011 9 2 103 111
-
(2011)
Cell Stem Cell
, vol.9
, Issue.2
, pp. 103-111
-
-
Barrilleaux, B.1
Knoepfler, P.S.2
-
16
-
-
82455199147
-
Induced pluripotent stem cellsopportunities for disease modelling and drug discovery
-
Grskovic M., Javaherian A., Strulovici B., Daley G. Q., Induced pluripotent stem cellsopportunities for disease modelling and drug discovery Nature Reviews Drug Discovery 2011 10 12 915 929
-
(2011)
Nature Reviews Drug Discovery
, vol.10
, Issue.12
, pp. 915-929
-
-
Grskovic, M.1
Javaherian, A.2
Strulovici, B.3
Daley, G.Q.4
-
17
-
-
79955464098
-
The use of induced pluripotent stem cells in drug Development
-
Inoue H., Yamanaka S., The use of induced pluripotent stem cells in drug Development Clinical Pharmacology and Therapeutics 2011 89 5 655 661
-
(2011)
Clinical Pharmacology and Therapeutics
, vol.89
, Issue.5
, pp. 655-661
-
-
Inoue, H.1
Yamanaka, S.2
-
18
-
-
79955666627
-
Modeling neurological diseases using patient-Derived induced pluripotent stem cells
-
Juopperi T. A., Song H., Ming G. L., Modeling neurological diseases using patient-Derived induced pluripotent stem cells Future Neurology 2011 6 3 363 373
-
(2011)
Future Neurology
, vol.6
, Issue.3
, pp. 363-373
-
-
Juopperi, T.A.1
Song, H.2
Ming, G.L.3
-
19
-
-
80755181367
-
Cellular reprogramming: Recent adVances in modeling neurological diseases
-
Ming G.-L., Brstle O., Muotri A., StuDer L., Wernig M., Christian K. M., Cellular reprogramming: recent adVances in modeling neurological diseases Journal of Neuroscience 2011 31 45 16070 16075
-
(2011)
Journal of Neuroscience
, vol.31
, Issue.45
, pp. 16070-16075
-
-
Ming, G.-L.1
Brstle, O.2
Muotri, A.3
StuDer, L.4
Wernig, M.5
Christian, K.M.6
-
20
-
-
84856007232
-
The promise of induced pluripotent stem cells in research and therapy
-
Robinton D. A., Daley G. Q., The promise of induced pluripotent stem cells in research and therapy Nature 2012 481 7381 295 305
-
(2012)
Nature
, vol.481
, Issue.7381
, pp. 295-305
-
-
Robinton, D.A.1
Daley, G.Q.2
-
21
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2
-
DOI 10.1038/13810
-
Amir R. E., Van Den Veyver I. B., Wan M., Tran C. Q., Francke U., Zoghbi H. Y., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nature Genetics 1999 23 2 185 188 (Pubitemid 29455390)
-
(1999)
Nature Genetics
, vol.23
, Issue.2
, pp. 185-188
-
-
Amir, R.E.1
Van Den Veyver, I.B.2
Wan, M.3
Tran, C.Q.4
Francke, U.5
Zoghbi, H.Y.6
-
22
-
-
0033646967
-
Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations
-
Amir R. E., Zoghbi H. Y., Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations American Journal of Medical Genetics 2000 97 2 147 152
-
(2000)
American Journal of Medical Genetics
, vol.97
, Issue.2
, pp. 147-152
-
-
Amir, R.E.1
Zoghbi, H.Y.2
-
24
-
-
0242300623
-
Postnatal NeuroDevelopmental DisorDers: Meeting at the Synapse?
-
DOI 10.1126/science.1089071
-
Zoghbi H. Y., Postnatal neuroDevelopmental disorDers: meeting at the synapse? Science 2003 302 5646 826 830 (Pubitemid 37339616)
-
(2003)
Science
, vol.302
, Issue.5646
, pp. 826-830
-
-
Zoghbi, H.Y.1
-
25
-
-
0035991629
-
MECP2 gene mutation analysis in Chinese patients with Rett syndrome
-
Pan H., Wang Y. P., Bao X. H., Meng H. D., Zhang Y., Wu X. R., Shen Y., MECP2 gene mutation analysis in Chinese patients with Rett syndrome European Journal of Human Genetics 2002 10 8 484 486
-
(2002)
European Journal of Human Genetics
, vol.10
, Issue.8
, pp. 484-486
-
-
Pan, H.1
Wang, Y.P.2
Bao, X.H.3
Meng, H.D.4
Zhang, Y.5
Wu, X.R.6
Shen, Y.7
-
26
-
-
79955602167
-
Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation
-
Cheung A. Y. L., Horvath L. M., Grafodatskaya D., Pasceri P., Weksberg R., Hotta A., Carrel L., Ellis J., Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation Human Molecular Genetics 2011 20 11 2103 2115
-
(2011)
Human Molecular Genetics
, vol.20
, Issue.11
, pp. 2103-2115
-
-
Cheung, A.Y.L.1
Horvath, L.M.2
Grafodatskaya, D.3
Pasceri, P.4
Weksberg, R.5
Hotta, A.6
Carrel, L.7
Ellis, J.8
-
27
-
-
78149488365
-
A model for neural Development and treatment of rett syndrome using human induced pluripotent stem cells
-
Marchetto M. C. N., Carromeu C., Acab A., Yu D., Yeo G. W., Mu Y., Chen G., Gage F. H., Muotri A. R., A model for neural Development and treatment of rett syndrome using human induced pluripotent stem cells Cell 2010 143 4 527 539
-
(2010)
Cell
, vol.143
, Issue.4
, pp. 527-539
-
-
Marchetto, M.C.N.1
Carromeu, C.2
Acab, A.3
Yu, D.4
Yeo, G.W.5
Mu, Y.6
Chen, G.7
Gage, F.H.8
Muotri, A.R.9
-
29
-
-
0035093830
-
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
-
DOI 10.1038/85906
-
Chen R. Z., Akbarian S., Tudor M., Jaenisch R., deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice Nature Genetics 2001 27 3 327 331 (Pubitemid 32201857)
-
(2001)
Nature Genetics
, vol.27
, Issue.3
, pp. 327-331
-
-
Chen, R.Z.1
Akbarian, S.2
Tudor, M.3
Jaenisch, R.4
-
30
-
-
60549115413
-
Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice
-
Tropea D., Giacometti E., Wilson N. R., Beard C., McCurry C., Dong D. F., Flannery R., Jaenisch R., Sur M., Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice Proceedings of the National Academy of Sciences of the United States of America 2009 106 6 2029 2034
-
(2009)
Proceedings of the National Academy of Sciences of the United States of America
, vol.106
, Issue.6
, pp. 2029-2034
-
-
Tropea, D.1
Giacometti, E.2
Wilson, N.R.3
Beard, C.4
McCurry, C.5
Dong, D.F.6
Flannery, R.7
Jaenisch, R.8
Sur, M.9
-
31
-
-
84883148646
-
Rett syndrome induced pluripotent stem cell-Derived neurons reveal novel neurophysiological alterations
-
In press
-
Farra N., Zhang W. B., Pasceri P., Eubanks J. H., Salter M. W., Ellis J., Rett syndrome induced pluripotent stem cell-Derived neurons reveal novel neurophysiological alterations. Molecular Psychiatry. In press
-
Molecular Psychiatry
-
-
Farra, N.1
Zhang, W.B.2
Pasceri, P.3
Eubanks, J.H.4
Salter, M.W.5
Ellis, J.6
-
32
-
-
77749279664
-
Intrinsic membrane properties of locus coeruleus neurons in Mecp2-null mice
-
Zhang X., Cui N., Wu Z., Su J., Tadepalli J. S., Sekizar S., Jiang C., Intrinsic membrane properties of locus coeruleus neurons in Mecp2-null mice American Journal of Physiology, Cell Physiology 2010 298 3 C635 C646
-
(2010)
American Journal of Physiology, Cell Physiology
, vol.298
, Issue.3
-
-
Zhang, X.1
Cui, N.2
Wu, Z.3
Su, J.4
Tadepalli, J.S.5
Sekizar, S.6
Jiang, C.7
-
33
-
-
24644490120
-
Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett Syndrome
-
DOI 10.1073/pnas.0506071102
-
Dani V. S., Chang Q., Maffei A., Turrigiano G. G., Jaenisch R., Nelson S. B., Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett Syndrome Proceedings of the National Academy of Sciences of the United States of America 2005 102 35 12560 12565 (Pubitemid 41266398)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.35
, pp. 12560-12565
-
-
Dani, V.S.1
Chang, Q.2
Maffei, A.3
Turrigiano, G.G.4
Jaenisch, R.5
Nelson, S.B.6
-
34
-
-
77951207088
-
Synaptic circuit abnormalities of motor-frontal layer 2/3 pyramidal neurons in a mutant mouse model of Rett syndrome
-
Wood L., Shepherd G. M. G., Synaptic circuit abnormalities of motor-frontal layer 2/3 pyramidal neurons in a mutant mouse model of Rett syndrome Neurobiology of Disease 2010 38 2 281 287
-
(2010)
Neurobiology of Disease
, vol.38
, Issue.2
, pp. 281-287
-
-
Wood, L.1
Shepherd, G.M.G.2
-
35
-
-
0642336945
-
MeCP2 Repression Goes Nonglobal
-
DOI 10.1126/science.1091762
-
Klose R., Bird A., MeCP2 Repression Goes Nonglobal Science 2003 302 5646 793 795 (Pubitemid 37339606)
-
(2003)
Science
, vol.302
, Issue.5646
, pp. 793-795
-
-
Klose, R.1
Bird, A.2
-
36
-
-
76849094693
-
Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state
-
Skene P. J., Illingworth R. S., Webb S., Kerr A. R. W., James K. D., Turner D. J., Andrews R., Bird A. P., Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state Molecular Cell 2010 37 4 457 468
-
(2010)
Molecular Cell
, vol.37
, Issue.4
, pp. 457-468
-
-
Skene, P.J.1
Illingworth, R.S.2
Webb, S.3
Kerr, A.R.W.4
James, K.D.5
Turner, D.J.6
Andrews, R.7
Bird, A.P.8
-
37
-
-
80054047383
-
The role of MeCP2 in the brain
-
Guy J., Cheval H., Selfridge J., Bird A., The role of MeCP2 in the brain Annual Review of Cell and Developmental Biology 2011 27 631 652
-
(2011)
Annual Review of Cell and Developmental Biology
, vol.27
, pp. 631-652
-
-
Guy, J.1
Cheval, H.2
Selfridge, J.3
Bird, A.4
-
38
-
-
0032574977
-
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
-
DOI 10.1038/30764
-
Nan X., Ng H. H., Johnson C. A., Laherty C. D., Turner B. M., Eisenman R. N., Bird A., Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex Nature 1998 393 6683 386 389 (Pubitemid 28269714)
-
(1998)
Nature
, vol.393
, Issue.6683
, pp. 386-389
-
-
Nan, X.1
Ng, H.-H.2
Johnson, C.A.3
Laherty, C.D.4
Turner, B.M.5
Eisenman, R.N.6
Bird, A.7
-
39
-
-
69349096044
-
L1 retrotransposition in human neural progenitor cells
-
Coufal N. G., Garcia-Perez J. L., Peng G. E., Yeo G. W., Mu Y., Lovci M. T., Morell M., O'Shea K. S., Moran J. V., Gage F. H., L1 retrotransposition in human neural progenitor cells Nature 2009 460 7259 1127 1131
-
(2009)
Nature
, vol.460
, Issue.7259
, pp. 1127-1131
-
-
Coufal, N.G.1
Garcia-Perez, J.L.2
Peng, G.E.3
Yeo, G.W.4
Mu, Y.5
Lovci, M.T.6
Morell, M.7
O'Shea, K.S.8
Moran, J.V.9
Gage, F.H.10
-
40
-
-
20544466648
-
Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition
-
DOI 10.1038/nature03663
-
Muotri A. R., Chu V. T., Marchetto M. C. N., Deng W., Moran J. V., Gage F. H., Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition Nature 2005 435 7044 903 910 (Pubitemid 40896309)
-
(2005)
Nature
, vol.435
, Issue.7044
, pp. 903-910
-
-
Muotri, A.R.1
Chu, V.T.2
Marchetto, M.C.N.3
Deng, W.4
Moran, J.V.5
Gage, F.H.6
-
41
-
-
77955271952
-
LINE-1 retrotransposons: Mediators of somatic variation in neuronal genomes?
-
Singer T., McConnell M. J., Marchetto M. C. N., Coufal N. G., Gage F. H., LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes? Trends in Neurosciences 2010 33 8 345 354
-
(2010)
Trends in Neurosciences
, vol.33
, Issue.8
, pp. 345-354
-
-
Singer, T.1
McConnell, M.J.2
Marchetto, M.C.N.3
Coufal, N.G.4
Gage, F.H.5
-
42
-
-
78549247463
-
L1 retrotransposition in neurons is modulated by MeCP2
-
Muotri A. R., Marchetto M. C. N., Coufal N. G., Oefner R., Yeo G., Nakashima K., Gage F. H., L1 retrotransposition in neurons is modulated by MeCP2 Nature 2010 468 7322 443 446
-
(2010)
Nature
, vol.468
, Issue.7322
, pp. 443-446
-
-
Muotri, A.R.1
Marchetto, M.C.N.2
Coufal, N.G.3
Oefner, R.4
Yeo, G.5
Nakashima, K.6
Gage, F.H.7
-
44
-
-
27144463130
-
Early onset seizures and Rett-like features associated with mutations in CDKL5
-
DOI 10.1038/sj.ejhg.5201451, PII 5201451
-
Evans J. C., Archer H. L., Colley J. P., Ravn K., Nielsen J. B., Kerr A., Williams E., Christodoulou J., Gécz J., Jardine P. E., Wright M. J., Pilz D. T., Lazarou L., Cooper D. N., Sampson J. R., Butler R., Whatley S. D., Clarke A. J., Early onset seizures and Rett-like features associated with mutations in CDKL5 European Journal of Human Genetics 2005 13 10 1113 1120 (Pubitemid 41486221)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.10
, pp. 1113-1120
-
-
Evans, J.C.1
Archer, H.L.2
Colley, J.P.3
Ravn, K.4
Nielsen, J.B.5
Kerr, A.6
Williams, E.7
Christodoulou, J.8
Gecz, J.9
Jardine, P.E.10
Wright, M.J.11
Pilz, D.T.12
Lazarou, L.13
Cooper, D.N.14
Sampson, J.R.15
Butler, R.16
Whatley, S.D.17
Clarke, A.J.18
-
45
-
-
33845903824
-
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome
-
DOI 10.1007/s10038-006-0079-0
-
Li M. R., Pan H., Bao X. H., Zhang Y. Z., Wu X. R., MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome Journal of Human Genetics 2007 52 1 38 47 (Pubitemid 46020563)
-
(2007)
Journal of Human Genetics
, vol.52
, Issue.1
, pp. 38-47
-
-
Li, M.-R.1
Pan, H.2
Bao, X.-H.3
Zhang, Y.-Z.4
Wu, X.-R.5
-
46
-
-
26444495179
-
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
-
DOI 10.1093/hmg/ddi198
-
Mari F., Azimonti S., Bertani I., Bolognese F., Colombo E., Caselli R., Scala E., Longo I., Grosso S., Pescucci C., Ariani F., Hayek G., Balestri P., Bergo A., Badaracco G., Zappella M., Broccoli V., Renieri A., Kilstrup-Nielsen C., Landsberger N., CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome Human Molecular Genetics 2005 14 14 1935 1946 (Pubitemid 41418030)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.14
, pp. 1935-1946
-
-
Mari, F.1
Azimonti, S.2
Bertani, I.3
Bolognese, F.4
Colombo, E.5
Caselli, R.6
Scala, E.7
Longo, I.8
Grosso, S.9
Pescucci, C.10
Ariani, F.11
Hayek, G.12
Balestri, P.13
Bergo, A.14
Badaracco, G.15
Zappella, M.16
Broccoli, V.17
Renieri, A.18
Kilstrup-Nielsen, C.19
Landsberger, N.20
more..
-
47
-
-
13444263520
-
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
-
DOI 10.1136/jmg.2004.026237
-
Scala E., Ariani F., Mari F., Caselli R., Pescucci C., Longo I., Meloni I., Giachino D., Bruttini M., Hayek G., Zappella M., Renieri A., CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms Journal of Medical Genetics 2005 42 2 103 107 (Pubitemid 40204363)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.2
, pp. 103-107
-
-
Scala, E.1
Ariani, F.2
Mari, F.3
Caselli, R.4
Pescucci, C.5
Longo, I.6
Meloni, I.7
Giachino, D.8
Bruttini, M.9
Hayek, G.10
Zappella, M.11
Renieri, A.12
-
48
-
-
77952553247
-
CDKL5 is a brain MeCP2 target gene regulated by DNA methylation
-
Carouge D., Host L., Aunis D., Zwiller J., Anglard P., CDKL5 is a brain MeCP2 target gene regulated by DNA methylation Neurobiology of Disease 2010 38 3 414 424
-
(2010)
Neurobiology of Disease
, vol.38
, Issue.3
, pp. 414-424
-
-
Carouge, D.1
Host, L.2
Aunis, D.3
Zwiller, J.4
Anglard, P.5
-
49
-
-
79959986409
-
IDentification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and rett-like features
-
Rademacher N., Hambrock M., Fischer U., Moser B., Ceulemans B., Lieb W., Boor R., Stefanova I., Gillessen-Kaesbach G., Runge C., Korenke G. C., Spranger S., Laccone F., Tzschach A., Kalscheuer V. M., IDentification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and rett-like features Neurogenetics 2011 12 2 165 167
-
(2011)
Neurogenetics
, vol.12
, Issue.2
, pp. 165-167
-
-
Rademacher, N.1
Hambrock, M.2
Fischer, U.3
Moser, B.4
Ceulemans, B.5
Lieb, W.6
Boor, R.7
Stefanova, I.8
Gillessen-Kaesbach, G.9
Runge, C.10
Korenke, G.C.11
Spranger, S.12
Laccone, F.13
Tzschach, A.14
Kalscheuer, V.M.15
-
50
-
-
81455141449
-
IPS cells to model CDKL5-related disorDers
-
Amenduni M., de Filippis R., Cheung A. Y. L., Disciglio V., Epistolato M. C., Ariani F., Mari F., Mencarelli M. A., Hayek Y., Renieri A., Ellis J., Meloni I., iPS cells to model CDKL5-related disorDers European Journal of Human Genetics 2011 19 1246 1255
-
(2011)
European Journal of Human Genetics
, vol.19
, pp. 1246-1255
-
-
Amenduni, M.1
De Filippis, R.2
Cheung, A.Y.L.3
Disciglio, V.4
Epistolato, M.C.5
Ariani, F.6
Mari, F.7
Mencarelli, M.A.8
Hayek, Y.9
Renieri, A.10
Ellis, J.11
Meloni, I.12
-
51
-
-
53849110899
-
Fragile X syndrome: Loss of local mRNA regulation alters synaptic Development and function
-
Bassell G. J., Warren S. T., Fragile X syndrome: loss of local mRNA regulation alters synaptic Development and function Neuron 2008 60 2 201 214
-
(2008)
Neuron
, vol.60
, Issue.2
, pp. 201-214
-
-
Bassell, G.J.1
Warren, S.T.2
-
52
-
-
44449084899
-
Fragile X syndrome
-
DOI 10.1038/ejhg.2008.61, PII EJHG200861
-
Garber K. B., Visootsak J., Warren S. T., Fragile X syndrome European Journal of Human Genetics 2008 16 6 666 672 (Pubitemid 351753362)
-
(2008)
European Journal of Human Genetics
, vol.16
, Issue.6
, pp. 666-672
-
-
Garber, K.B.1
Visootsak, J.2
Warren, S.T.3
-
53
-
-
3042647610
-
The mGluR theory of fragile X mental retardation
-
DOI 10.1016/j.tins.2004.04.009, PII S0166223604001328
-
Bear M. F., Huber K. M., Warren S. T., The mGluR theory of fragile X mental retardation Trends in Neurosciences 2004 27 7 370 377 (Pubitemid 38829251)
-
(2004)
Trends in Neurosciences
, vol.27
, Issue.7
, pp. 370-377
-
-
Bear, M.F.1
Huber, K.M.2
Warren, S.T.3
-
54
-
-
0036301947
-
A Decade of molecular studies of fragile X syndrome
-
DOI 10.1146/annurev.neuro.25.112701.142909
-
O'Donnell W. T., Warren S. T., A Decade of molecular studies of fragile X syndrome Annual Review of Neuroscience 2002 25 315 338 (Pubitemid 34748020)
-
(2002)
Annual Review of Neuroscience
, vol.25
, pp. 315-338
-
-
O'Donnell, W.T.1
Warren, S.T.2
-
55
-
-
0028904864
-
Triplet repeat expansion mutations: The example of fragile X syndrome
-
Warren S. T., Ashley C. T., Triplet repeat expansion mutations: the example of fragile X syndrome Annual Review of Neuroscience 1995 18 77 99
-
(1995)
Annual Review of Neuroscience
, vol.18
, pp. 77-99
-
-
Warren, S.T.1
Ashley, C.T.2
-
57
-
-
33646512220
-
Transcription, translation and fragile X syndrome
-
Garber K., Smith K. T., Reines D., Warren S. T., Transcription, translation and fragile X syndrome Current Opinion in Genetics and Development 2006 16 3 270 275
-
(2006)
Current Opinion in Genetics and Development
, vol.16
, Issue.3
, pp. 270-275
-
-
Garber, K.1
Smith, K.T.2
Reines, D.3
Warren, S.T.4
-
58
-
-
37049032616
-
Correction of Fragile X Syndrome in Mice
-
DOI 10.1016/j.neuron.2007.12.001, PII S0896627307009646
-
Dlen G., Osterweil E., Rao B. S. S., Smith G. B., Auerbach B. D., Chattarji S., Bear M. F., Correction of Fragile X Syndrome in Mice Neuron 2007 56 6 955 962 (Pubitemid 350251119)
-
(2007)
Neuron
, vol.56
, Issue.6
, pp. 955-962
-
-
Dolen, G.1
Osterweil, E.2
Rao, B.S.S.3
Smith, G.B.4
Auerbach, B.D.5
Chattarji, S.6
Bear, M.F.7
-
59
-
-
40949090052
-
Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome
-
DOI 10.1113/jphysiol.2008.150722
-
Dlen G., Bear M. F., Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome Journal of Physiology 2008 586 6 1503 1508 (Pubitemid 351404955)
-
(2008)
Journal of Physiology
, vol.586
, Issue.6
, pp. 1503-1508
-
-
Dolen, G.1
Bear, M.F.2
-
60
-
-
49849098290
-
FMRP acts as a key messenger for dopamine modulation in the forebrain
-
Wang H., Wu L. J., Kim S. S., Lee F. J. S., Gong B., Toyoda H., Ren M., Shang Y. Z., Xu H., Liu F., Zhao M. G., Zhuo M., FMRP acts as a key messenger for dopamine modulation in the forebrain Neuron 2008 59 4 634 647
-
(2008)
Neuron
, vol.59
, Issue.4
, pp. 634-647
-
-
Wang, H.1
Wu, L.J.2
Kim, S.S.3
Lee, F.J.S.4
Gong, B.5
Toyoda, H.6
Ren, M.7
Shang, Y.Z.8
Xu, H.9
Liu, F.10
Zhao, M.G.11
Zhuo, M.12
-
61
-
-
77949835797
-
Astrocytes prevent abnormal neuronal Development in the fragile X mouse
-
Jacobs S., Doering L. C., Astrocytes prevent abnormal neuronal Development in the fragile X mouse Journal of Neuroscience 2010 30 12 4508 4514
-
(2010)
Journal of Neuroscience
, vol.30
, Issue.12
, pp. 4508-4514
-
-
Jacobs, S.1
Doering, L.C.2
-
62
-
-
7944232720
-
RNA and microRNAs in fragile X mental retardation
-
DOI 10.1038/ncb1104-1048
-
Jin P., Alisch R. S., Warren S. T., RNA and microRNAs in fragile X mental retardation Nature Cell Biology 2004 6 11 1048 1053 (Pubitemid 39468005)
-
(2004)
Nature Cell Biology
, vol.6
, Issue.11
, pp. 1048-1053
-
-
Jin, P.1
Alisch, R.S.2
Warren, S.T.3
-
63
-
-
35048886071
-
Developmental expression of FMRP in the astrocyte lineage: Implications for fragile X syndrome
-
DOI 10.1002/glia.20573
-
Pacey L. K. K., Doering L. C., Developmental expression of FMRP in the astrocyte lineage: implications for fragile X syndrome GLIA 2007 55 15 1601 1609 (Pubitemid 47556263)
-
(2007)
GLIA
, vol.55
, Issue.15
, pp. 1601-1609
-
-
Pacey, L.K.K.1
Doering, L.C.2
-
64
-
-
77954368724
-
Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent -amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization
-
Wang H., Kim S. S., Zhuo M., Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent -amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization Journal of Biological Chemistry 2010 285 28 21888 21901
-
(2010)
Journal of Biological Chemistry
, vol.285
, Issue.28
, pp. 21888-21901
-
-
Wang, H.1
Kim, S.S.2
Zhuo, M.3
-
65
-
-
35848937244
-
Developmental Study of Fragile X Syndrome Using Human Embryonic Stem Cells Derived from Preimplantation Genetically Diagnosed Embryos
-
DOI 10.1016/j.stem.2007.09.001, PII S1934590907001713
-
Eiges R., Urbach A., Malcov M., Frumkin T., Schwartz T., Amit A., Yaron Y., Eden A., Yanuka O., Benvenisty N., Ben-Yosef D., Developmental study of fragile X syndrome using human embryonic stem cells Derived from preimplantation genetically diagnosed embryos Cell Stem Cell 2007 1 5 568 577 (Pubitemid 350079966)
-
(2007)
Cell Stem Cell
, vol.1
, Issue.5
, pp. 568-577
-
-
Eiges, R.1
Urbach, A.2
Malcov, M.3
Frumkin, T.4
Schwartz, T.5
Amit, A.6
Yaron, Y.7
Eden, A.8
Yanuka, O.9
Benvenisty, N.10
Ben-Yosef, D.11
-
66
-
-
77956214743
-
Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells
-
Urbach A., Bar-Nur O., Daley G. Q., Benvenisty N., Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells Cell Stem Cell 2010 6 5 407 411
-
(2010)
Cell Stem Cell
, vol.6
, Issue.5
, pp. 407-411
-
-
Urbach, A.1
Bar-Nur, O.2
Daley, G.Q.3
Benvenisty, N.4
-
67
-
-
80053948646
-
Epigenetic characterization of the FMR1 gene and aberrant neuroDevelopment in human induced pluripotent stem cell models of fragile X syndrome
-
Sheridan S. D., Theriault K. M., Reis S. A., Zhou F., Madison J. M., Daheron L., Loring J. F., Haggarty S. J., Epigenetic characterization of the FMR1 gene and aberrant neuroDevelopment in human induced pluripotent stem cell models of fragile X syndrome PLoS One 2011 6 10
-
(2011)
PLoS One
, vol.6
, Issue.10
-
-
Sheridan, S.D.1
Theriault, K.M.2
Reis, S.A.3
Zhou, F.4
Madison, J.M.5
Daheron, L.6
Loring, J.F.7
Haggarty, S.J.8
-
68
-
-
33748959040
-
The challenge of Down syndrome
-
DOI 10.1016/j.molmed.2006.08.005, PII S1471491406001742
-
Antonarakis S. E., Epstein C. J., The challenge of Down syndrome Trends in Molecular Medicine 2006 12 10 473 479 (Pubitemid 44441997)
-
(2006)
Trends in Molecular Medicine
, vol.12
, Issue.10
, pp. 473-479
-
-
Antonarakis, S.E.1
Epstein, C.J.2
-
69
-
-
33748089366
-
Neurobehavioral disorDers in children, adolescents, and young adults with Down syndrome
-
DOI 10.1002/ajmg.c.30097
-
Capone G., Goyal P., Ares W., Lannigan E., Neurobehavioral disorDers in children, adolescents, and young adults with Down syndrome American Journal of Medical Genetics, Part C 2006 142 3 158 172 (Pubitemid 44298198)
-
(2006)
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
, vol.142
, Issue.3
, pp. 158-172
-
-
Capone, G.1
Goyal, P.2
Ares, W.3
Lannigan, E.4
-
70
-
-
42249107309
-
Mental retardation and associated neurological dysfunctions in Down syndrome: A consequence of dysregulation in critical chromosome 21 genes and associated molecular pathways
-
DOI 10.1016/j.ejpn.2007.08.010, PII S1090379807001535
-
Rachidi M., Lopes C., Mental retardation and associated neurological dysfunctions in Down syndrome: a consequence of dysregulation in critical chromosome 21 genes and associated molecular pathways European Journal of Paediatric Neurology 2008 12 3 168 182 (Pubitemid 351545848)
-
(2008)
European Journal of Paediatric Neurology
, vol.12
, Issue.3
, pp. 168-182
-
-
Rachidi, M.1
Lopes, C.2
-
71
-
-
5044234361
-
Chromosome 21 and Down syndrome: From genomics to pathophysiology
-
DOI 10.1038/nrg1448
-
Antonarakis S. E., Lyle R., Dermitzakis E. T., Reymond A., Deutsch S., Chromosome 21 and Down syndrome: from genomics to pathophysiology Nature Reviews Genetics 2004 5 10 725 738 (Pubitemid 39336357)
-
(2004)
Nature Reviews Genetics
, vol.5
, Issue.10
, pp. 725-738
-
-
Antonarakis, S.E.1
Lyle, R.2
Dermitzakis, E.T.3
Reymond, A.4
Deutsch, S.5
-
73
-
-
38349120430
-
Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury
-
Esposito G., Imitola J., Lu J., de Filippis D., Scuderi C., Ganesh V. S., Folkerth R., Hecht J., Shin S., IuVone T., Chesnut J., Steardo L., Sheen V., Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury Human Molecular Genetics 2008 17 3 440 457
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.3
, pp. 440-457
-
-
Esposito, G.1
Imitola, J.2
Lu, J.3
De Filippis, D.4
Scuderi, C.5
Ganesh, V.S.6
Folkerth, R.7
Hecht, J.8
Shin, S.9
IuVone, T.10
Chesnut, J.11
Steardo, L.12
Sheen, V.13
-
74
-
-
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 2008 134 5 877 886
-
(2008)
Cell
, vol.134
, 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
-
75
-
-
84863293998
-
Variants in CYP17 and CYP19 cytochrome P450 genes are associated with onset of Alzheimer's disease in women with Down syndrome
-
Chace C., Pang D., Weng C., Temkin A., Lax S., Silverman W., Zigman W., Ferin M., Lee J. H., Tycko B., Schupf N., Variants in CYP17 and CYP19 cytochrome P450 genes are associated with onset of Alzheimer's disease in women with Down syndrome Journal of Alzheimer's Disease 2012 28 3 601 612
-
(2012)
Journal of Alzheimer's Disease
, vol.28
, Issue.3
, pp. 601-612
-
-
Chace, C.1
Pang, D.2
Weng, C.3
Temkin, A.4
Lax, S.5
Silverman, W.6
Zigman, W.7
Ferin, M.8
Lee, J.H.9
Tycko, B.10
Schupf, N.11
-
76
-
-
84858380551
-
Neurobiological elements of cognitive dysfunction in down syndrome: Exploring the role of APP
-
Millan Sanchez M., Heyn S. N., Das D., Moghadam S., Martin K. J., Salehi A., Neurobiological elements of cognitive dysfunction in down syndrome: exploring the role of APP Biological Psychiatry 2012 71 5 403 409
-
(2012)
Biological Psychiatry
, vol.71
, Issue.5
, pp. 403-409
-
-
Millan Sanchez, M.1
Heyn, S.N.2
Das, D.3
Moghadam, S.4
Martin, K.J.5
Salehi, A.6
-
77
-
-
84856955428
-
Altered regulation of tau phosphorylation in a mouse model of down syndrome aging
-
Sheppard O., Plattner F., Rubin A., SlenDer A., Linehan J. M., Brandner S., Tybulewicz V. L. J., Fisher E. M. C., Wiseman F. K., Altered regulation of tau phosphorylation in a mouse model of down syndrome aging Neurobiology of Aging 2012 33 4 828.e31 828.e44
-
(2012)
Neurobiology of Aging
, vol.33
, Issue.4
-
-
Sheppard, O.1
Plattner, F.2
Rubin, A.3
SlenDer, A.4
Linehan, J.M.5
Brandner, S.6
Tybulewicz, V.L.J.7
Fisher, E.M.C.8
Wiseman, F.K.9
-
78
-
-
84863229339
-
A human stem cell model of early Alzheimer's disease pathology in Down syndrome
-
ARTICLE 124RA29
-
Shi Y., Kirwan P., Smith J., MacLean G., Orkin S. H., Livesey F. J., A human stem cell model of early Alzheimer's disease pathology in Down syndrome Science Translational Medicine 2012 4 124, article 124ra29
-
(2012)
Science Translational Medicine
, vol.4
, Issue.124
-
-
Shi, Y.1
Kirwan, P.2
Smith, J.3
MacLean, G.4
Orkin, S.H.5
Livesey, F.J.6
-
79
-
-
79957560791
-
Angelman syndrome: Insights into genomic imprinting and neuroDevelopmental phenotypes
-
Mabb A. M., Judson M. C., Zylka M. J., Philpot B. D., Angelman syndrome: insights into genomic imprinting and neuroDevelopmental phenotypes Trends in Neurosciences 2011 34 6 293 303
-
(2011)
Trends in Neurosciences
, vol.34
, Issue.6
, pp. 293-303
-
-
Mabb, A.M.1
Judson, M.C.2
Zylka, M.J.3
Philpot, B.D.4
-
81
-
-
33644865491
-
Angelman syndrome 2005: Updated consensus for diagnostic criteria
-
DOI 10.1002/ajmg.a.31074
-
Williams C. A., Beaudet A. L., Clayton-Smith J., Knoll J. H., Kyllerman M., Laan L. A., Magenis R. E., Moncla A., Schinzel A. A., Summers J. A., Wagstaff J., Angelman syndrome 2005: updated consensus for diagnostic criteria American Journal of Medical Genetics 2006 140 5 413 418 (Pubitemid 43376311)
-
(2006)
American Journal of Medical Genetics
, vol.140
, Issue.5
, pp. 413-418
-
-
Williams, C.A.1
Beaudet, A.L.2
Clayton-Smith, J.3
Knoll, J.H.4
Kyllerman, M.5
Laan, L.A.6
Magenis, R.E.7
Moncla, A.8
Schinzel, A.A.9
Summers, J.A.10
Wagstaff, J.11
-
83
-
-
78049303170
-
Induced pluripotent stem cell models of the genomic imprinting disorDers Angelman and PraDer-Willi syndromes
-
Chamberlain S. J., Chen P. F., Ng K. Y., Bourgois-Rocha F., Lemtiri-Chlieh F., Levine E. S., Lalande M., Induced pluripotent stem cell models of the genomic imprinting disorDers Angelman and PraDer-Willi syndromes Proceedings of the National Academy of Sciences of the United States of America 2010 107 41 17668 17673
-
(2010)
Proceedings of the National Academy of Sciences of the United States of America
, vol.107
, Issue.41
, pp. 17668-17673
-
-
Chamberlain, S.J.1
Chen, P.F.2
Ng, K.Y.3
Bourgois-Rocha, F.4
Lemtiri-Chlieh, F.5
Levine, E.S.6
Lalande, M.7
-
85
-
-
31044455614
-
PraDer-Willi syndrome: Clinical genetics, cytogenetics and molecular biology
-
Bittel D. C., Butler M. G., PraDer-Willi syndrome: clinical genetics, cytogenetics and molecular biology Expert Reviews in Molecular Medicine 2005 7 14
-
(2005)
Expert Reviews in Molecular Medicine
, vol.7
, Issue.14
-
-
Bittel, D.C.1
Butler, M.G.2
-
86
-
-
1042267409
-
PraDer-Willi syndrome: AdVances in genetics, pathophysiology and treatment
-
DOI 10.1016/j.tem.2003.11.003
-
Goldstone A. P., PraDer-Willi syndrome: adVances in genetics, pathophysiology and treatment Trends in Endocrinology and Metabolism 2004 15 1 12 20 (Pubitemid 38198094)
-
(2004)
Trends in Endocrinology and Metabolism
, vol.15
, Issue.1
, pp. 12-20
-
-
Goldstone, A.P.1
-
87
-
-
78650051022
-
Induced pluripotent stem cells can be used to model the genomic imprinting disorDer PraDer-Willi syndrome
-
Yang J., Cai J., Zhang Y., Wang X., Li W., Xu J., Li F., Guo X., Deng K., Zhong M., Chen Y., Lai L., Pei D., Esteban M. A., Induced pluripotent stem cells can be used to model the genomic imprinting disorDer PraDer-Willi syndrome Journal of Biological Chemistry 2010 285 51 40303 40311
-
(2010)
Journal of Biological Chemistry
, vol.285
, Issue.51
, pp. 40303-40311
-
-
Yang, J.1
Cai, J.2
Zhang, Y.3
Wang, X.4
Li, W.5
Xu, J.6
Li, F.7
Guo, X.8
Deng, K.9
Zhong, M.10
Chen, Y.11
Lai, L.12
Pei, D.13
Esteban, M.A.14
-
88
-
-
80053064177
-
Mouse model of Timothy syndrome recapitulates triad of autistic traits
-
BaDer P. L., Faizi M., Kim L. H., Owen S. F., Tadross M. R., Alfa R. W., Bett G. C. L., Tsien R. W., Rasmusson R. L., Shamloo M., Mouse model of Timothy syndrome recapitulates triad of autistic traits Proceedings of the National Academy of Sciences of the United States of America 2011 108 37 15432 15437
-
(2011)
Proceedings of the National Academy of Sciences of the United States of America
, vol.108
, Issue.37
, pp. 15432-15437
-
-
BaDer, P.L.1
Faizi, M.2
Kim, L.H.3
Owen, S.F.4
Tadross, M.R.5
Alfa, R.W.6
Bett, G.C.L.7
Tsien, R.W.8
Rasmusson, R.L.9
Shamloo, M.10
-
90
-
-
79958289489
-
-
Pagon R. A. Bird T. D. Dolan C. R. Stephens K. Adam M. P. Seattle, Wash, USA University of Washington
-
Splawski I., Timothy K. W., Priori S. G., Napolitano C., Bloise R., Pagon R. A., Bird T. D., Dolan C. R., Stephens K., Adam M. P., Gene Reviews 1993 Seattle, Wash, USA University of Washington
-
(1993)
Gene Reviews
-
-
Splawski, I.1
Timothy, K.W.2
Priori, S.G.3
Napolitano, C.4
Bloise, R.5
-
91
-
-
84856088804
-
Using iPSC-Derived neurons to uncover cellular phenotypes associated with Timothy syndrome
-
Paca S. P., Portmann T., Voineagu I., Yazawa M., Shcheglovitov A., Paca A. M., Cord B., Palmer T. D., Chikahisa S., Nishino S., Bernstein J. A., Hallmayer J., Geschwind D. H., Dolmetsch R. E., Using iPSC-Derived neurons to uncover cellular phenotypes associated with Timothy syndrome Nature Medicine 2011 17 12 1657 1662
-
(2011)
Nature Medicine
, vol.17
, Issue.12
, pp. 1657-1662
-
-
Paca, S.P.1
Portmann, T.2
Voineagu, I.3
Yazawa, M.4
Shcheglovitov, A.5
Paca, A.M.6
Cord, B.7
Palmer, T.D.8
Chikahisa, S.9
Nishino, S.10
Bernstein, J.A.11
Hallmayer, J.12
Geschwind, D.H.13
Dolmetsch, R.E.14
-
92
-
-
78650115906
-
Perspectives and diagnostic consiDerations in spinal muscular atrophy
-
Prior T. W., Perspectives and diagnostic consiDerations in spinal muscular atrophy Genetics in Medicine 2010 12 3 145 152
-
(2010)
Genetics in Medicine
, vol.12
, Issue.3
, pp. 145-152
-
-
Prior, T.W.1
-
93
-
-
77953893282
-
Spinal muscular atrophy: Mechanisms and therapeutic strategies
-
Lorson C. L., Rindt H., Shababi M., Spinal muscular atrophy: mechanisms and therapeutic strategies Human Molecular Genetics 2010 19 1 R111 R118
-
(2010)
Human Molecular Genetics
, vol.19
, Issue.1
-
-
Lorson, C.L.1
Rindt, H.2
Shababi, M.3
-
94
-
-
70350555562
-
Spinal muscular atrophy: Molecular mechanisms
-
Farrar M. A., Johnston H. M., Grattan-Smith P., Turner A., Kiernan M. C., Spinal muscular atrophy: molecular mechanisms Current Molecular Medicine 2009 9 7 851 862
-
(2009)
Current Molecular Medicine
, vol.9
, Issue.7
, pp. 851-862
-
-
Farrar, M.A.1
Johnston, H.M.2
Grattan-Smith, P.3
Turner, A.4
Kiernan, M.C.5
-
95
-
-
67651083390
-
Spinal muscular atrophy: Why do low levels of survival motor neuron protein make motor neurons sick?
-
Burghes A. H. M., Beattie C. E., Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nature Reviews Neuroscience 2009 10 8 597 609
-
(2009)
Nature Reviews Neuroscience
, vol.10
, Issue.8
, pp. 597-609
-
-
Burghes, A.H.M.1
Beattie, C.E.2
-
96
-
-
58249110796
-
Induced pluripotent stem cells from a spinal muscular atrophy patient
-
Ebert A. D., Yu J., Rose 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 2009 457 7227 277 280
-
(2009)
Nature
, vol.457
, Issue.7227
, pp. 277-280
-
-
Ebert, A.D.1
Yu, J.2
Rose, F.F.3
Mattis, V.B.4
Lorson, C.L.5
Thomson, J.A.6
Svendsen, C.N.7
-
97
-
-
81855206164
-
Brief report: Phenotypic rescue of induced pluripotent stem cell-Derived motoneurons of a spinal muscular atrophy patient
-
Chang T., Zheng W., Tsark W., Bates S., Huang H., Lin R.-J., Yee J.-K., Brief report: phenotypic rescue of induced pluripotent stem cell-Derived motoneurons of a spinal muscular atrophy patient Stem Cells 2011 29 12 2090 2093
-
(2011)
Stem Cells
, vol.29
, Issue.12
, pp. 2090-2093
-
-
Chang, T.1
Zheng, W.2
Tsark, W.3
Bates, S.4
Huang, H.5
Lin, R.-J.6
Yee, J.-K.7
-
98
-
-
77954113167
-
Therapy Development in spinal muscular atrophy
-
Sendtner M., Therapy Development in spinal muscular atrophy Nature Neuroscience 2010 13 7 795 799
-
(2010)
Nature Neuroscience
, vol.13
, Issue.7
, pp. 795-799
-
-
Sendtner, M.1
-
99
-
-
58149198244
-
The molecular basis of familial dysautonomia: Overview, new discoveries and implications for directed therapies
-
Rubin B. Y., AnDerson S. L., The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies NeuroMolecular Medicine 2008 10 3 148 156
-
(2008)
NeuroMolecular Medicine
, vol.10
, Issue.3
, pp. 148-156
-
-
Rubin, B.Y.1
AnDerson, S.L.2
-
101
-
-
84857053245
-
Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells
-
Boone N., Bergon A., Loriod B., Devze A., Nguyen C., Axelrod F. B., Ibrahim E. C., Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells Human Mutation 2012 33 3 530 540
-
(2012)
Human Mutation
, vol.33
, Issue.3
, pp. 530-540
-
-
Boone, N.1
Bergon, A.2
Loriod, B.3
Devze, A.4
Nguyen, C.5
Axelrod, F.B.6
Ibrahim, E.C.7
-
102
-
-
79960060773
-
Modelling familial dysautonomia in human induced pluripotent stem cells
-
Lee G., StuDer L., Modelling familial dysautonomia in human induced pluripotent stem cells Philosophical Transactions of the Royal Society B 2011 366 1575 2286 2296
-
(2011)
Philosophical Transactions of the Royal Society B
, vol.366
, Issue.1575
, pp. 2286-2296
-
-
Lee, G.1
StuDer, L.2
-
103
-
-
70349301819
-
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
-
Lee G., Papapetrou E. P., Kim H., Chambers S. M., Tomishima M. J., Fasano C. A., Ganat Y. M., Menon J., Shimizu F., Viale A., Tabar V., Sadelain M., StuDer L., Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs Nature 2009 461 7262 402 406
-
(2009)
Nature
, vol.461
, Issue.7262
, pp. 402-406
-
-
Lee, G.1
Papapetrou, E.P.2
Kim, H.3
Chambers, S.M.4
Tomishima, M.J.5
Fasano, C.A.6
Ganat, Y.M.7
Menon, J.8
Shimizu, F.9
Viale, A.10
Tabar, V.11
Sadelain, M.12
StuDer, L.13
-
105
-
-
79952486262
-
Amyotrophic lateral sclerosis
-
Kiernan M. C., Vucic S., Cheah B. C., Turner M. R., Eisen A., Hardiman O., Burrell J. R., Zoing M. C., Amyotrophic lateral sclerosis The Lancet 2011 377 9769 942 955
-
(2011)
The Lancet
, vol.377
, Issue.9769
, pp. 942-955
-
-
Kiernan, M.C.1
Vucic, S.2
Cheah, B.C.3
Turner, M.R.4
Eisen, A.5
Hardiman, O.6
Burrell, J.R.7
Zoing, M.C.8
-
106
-
-
79954608945
-
Emerging targets and treatments in amyotrophic lateral sclerosis
-
Zinman L., Cudkowicz M., Emerging targets and treatments in amyotrophic lateral sclerosis The Lancet Neurology 2011 10 5 481 490
-
(2011)
The Lancet Neurology
, vol.10
, Issue.5
, pp. 481-490
-
-
Zinman, L.1
Cudkowicz, M.2
-
107
-
-
78649274827
-
Diagnosis, pathogenesis and therapeutic targets in amyotrophic lateral sclerosis
-
Costa J., Gomes C., De Carvalho M., Diagnosis, pathogenesis and therapeutic targets in amyotrophic lateral sclerosis CNS and Neurological DisorDers, Drug Targets 2010 9 6 764 778
-
(2010)
CNS and Neurological DisorDers, Drug Targets
, vol.9
, Issue.6
, pp. 764-778
-
-
Costa, J.1
Gomes, C.2
De Carvalho, M.3
-
108
-
-
78649277728
-
Genetic determinants of amyotrophic lateral sclerosis as therapeutic targets
-
Bosco D. A., LanDers J. E., Genetic determinants of amyotrophic lateral sclerosis as therapeutic targets CNS and Neurological DisorDers, Drug Targets 2010 9 6 779 790
-
(2010)
CNS and Neurological DisorDers, Drug Targets
, vol.9
, Issue.6
, pp. 779-790
-
-
Bosco, D.A.1
LanDers, J.E.2
-
110
-
-
33747605320
-
Molecular biology of amyotrophic lateral sclerosis: Insights from genetics
-
DOI 10.1038/nrn1971, PII NRN1971
-
Pasinelli P., Brown R. H., Molecular biology of amyotrophic lateral sclerosis: insights from genetics Nature Reviews Neuroscience 2006 7 9 710 723 (Pubitemid 44267495)
-
(2006)
Nature Reviews Neuroscience
, vol.7
, Issue.9
, pp. 710-723
-
-
Pasinelli, P.1
Brown, R.H.2
-
111
-
-
37849043062
-
Genetics of familial amyotrophic lateral sclerosis
-
Valdmanis P. N., Rouleau G. A., Genetics of familial amyotrophic lateral sclerosis Neurology 2008 70 2 144 152
-
(2008)
Neurology
, vol.70
, Issue.2
, pp. 144-152
-
-
Valdmanis, P.N.1
Rouleau, G.A.2
-
112
-
-
70449643154
-
AdVances in stem cell research for Amyotrophic Lateral Sclerosis
-
Papadeas S. T., Maragakis N. J., AdVances in stem cell research for Amyotrophic Lateral Sclerosis Current Opinion in Biotechnology 2009 20 5 545 551
-
(2009)
Current Opinion in Biotechnology
, vol.20
, Issue.5
, pp. 545-551
-
-
Papadeas, S.T.1
Maragakis, N.J.2
-
113
-
-
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 2008 321 5893 1218 1221
-
(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
-
114
-
-
80052225992
-
Downregulation of VAPB expression in motor neurons Derived from induced pluripotent stem cells of ALS8 patients
-
Mitne-Neto M., Machado-Costa M., Marchetto M. C. N., Bengtson M. H., Joazeiro C. A., Tsuda H., Bellen H. J., Silva H. C. A., Oliveira A. S. B., Lazar M., Muotri A. R., Zatz M., Downregulation of VAPB expression in motor neurons Derived from induced pluripotent stem cells of ALS8 patients Human Molecular Genetics 2011 20 18 3642 3652
-
(2011)
Human Molecular Genetics
, vol.20
, Issue.18
, pp. 3642-3652
-
-
Mitne-Neto, M.1
MacHado-Costa, M.2
Marchetto, M.C.N.3
Bengtson, M.H.4
Joazeiro, C.A.5
Tsuda, H.6
Bellen, H.J.7
Silva, H.C.A.8
Oliveira, A.S.B.9
Lazar, M.10
Muotri, A.R.11
Zatz, M.12
-
115
-
-
77951975098
-
Vesicle associated membrane protein B (VAPB) is Decreased in ALS spinal cord
-
Anagnostou G., Akbar M. T., Paul P., Angelinetta C., Steiner T. J., De Belleroche J., Vesicle associated membrane protein B (VAPB) is Decreased in ALS spinal cord Neurobiology of Aging 2010 31 6 969 985
-
(2010)
Neurobiology of Aging
, vol.31
, Issue.6
, pp. 969-985
-
-
Anagnostou, G.1
Akbar, M.T.2
Paul, P.3
Angelinetta, C.4
Steiner, T.J.5
De Belleroche, J.6
-
116
-
-
34848904785
-
Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-Derived tubular aggregates
-
DOI 10.1523/JNEUROSCI.2661-07.2007
-
Teuling E., Ahmed S., Haasdijk E., Demmers J., Steinmetz M. O., Akhmanova A., Jaarsma D., Hoogenraad C. C., Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-Derived tubular aggregates Journal of Neuroscience 2007 27 36 9801 9815 (Pubitemid 47492194)
-
(2007)
Journal of Neuroscience
, vol.27
, Issue.36
, pp. 9801-9815
-
-
Teuling, E.1
Ahmed, S.2
Haasdijk, E.3
Demmers, J.4
Steinmetz, M.O.5
Akhmanova, A.6
Jaarsma, D.7
Hoogenraad, C.C.8
-
117
-
-
84859569070
-
Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability
-
Bilican B., Serio A., Barmada S. J., Nishimura A. L., SulliVan G. J., Carrasco M., Phatnani H. P., Puddifoot C. A., Story D., Fletcher J., Park I.-H., Friedman B. A., Daley G. Q., Wyllie D. J. A., Hardingham G. E., Wilmut I., Finkbeiner S., Maniatis T., Shaw C. E., Chandran S., Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability Proceedings of the National Academy of Sciences of the United States of America 2012 109 15 5803 5808
-
(2012)
Proceedings of the National Academy of Sciences of the United States of America
, vol.109
, Issue.15
, pp. 5803-5808
-
-
Bilican, B.1
Serio, A.2
Barmada, S.J.3
Nishimura, A.L.4
SulliVan, G.J.5
Carrasco, M.6
Phatnani, H.P.7
Puddifoot, C.A.8
Story, D.9
Fletcher, J.10
Park, I.-H.11
Friedman, B.A.12
Daley, G.Q.13
Wyllie, D.J.A.14
Hardingham, G.E.15
Wilmut, I.16
Finkbeiner, S.17
Maniatis, T.18
Shaw, C.E.19
Chandran, S.20
more..
-
119
-
-
64049091552
-
Gene, cell, and axon changes in the familial amyotrophic lateral sclerosis mouse sensorimotor cortex
-
Kassa R. M., Mariotti R., Bonaconsa M., Bertini G., Bentivoglio M., Gene, cell, and axon changes in the familial amyotrophic lateral sclerosis mouse sensorimotor cortex Journal of Neuropathology and Experimental Neurology 2009 68 1 59 72
-
(2009)
Journal of Neuropathology and Experimental Neurology
, vol.68
, Issue.1
, pp. 59-72
-
-
Kassa, R.M.1
Mariotti, R.2
Bonaconsa, M.3
Bertini, G.4
Bentivoglio, M.5
-
120
-
-
39749188753
-
Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis
-
DOI 10.1038/nn2047, PII NN2047
-
Yamanaka K., Chun S. J., Boillee S., Fujimori-Tonou N., Yamashita H., Gutmann D. H., Takahashi R., Misawa H., Cleveland D. W., Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis Nature Neuroscience 2008 11 3 251 253 (Pubitemid 351311795)
-
(2008)
Nature Neuroscience
, vol.11
, Issue.3
, pp. 251-253
-
-
Yamanaka, K.1
Chun, S.J.2
Boillee, S.3
Fujimori-Tonou, N.4
Yamashita, H.5
Gutmann, D.H.6
Takahashi, R.7
Misawa, H.8
Cleveland, D.W.9
-
121
-
-
79952163901
-
Neuronal degeneration in striatal transplants and Huntington's disease: Potential mechanisms and clinical implications
-
Cicchetti F., Soulet D., Freeman T. B., Neuronal degeneration in striatal transplants and Huntington's disease: potential mechanisms and clinical implications Brain 2011 134 3 641 652
-
(2011)
Brain
, vol.134
, Issue.3
, pp. 641-652
-
-
Cicchetti, F.1
Soulet, D.2
Freeman, T.B.3
-
122
-
-
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 The Lancet Neurology 2011 10 1 83 98
-
(2011)
The Lancet Neurology
, vol.10
, Issue.1
, pp. 83-98
-
-
Ross, C.A.1
Tabrizi, S.J.2
-
123
-
-
77953894712
-
Huntington's disease: Progress toward effective disease-modifying treatments and a cure
-
Johnson C. D., Davidson B. L., Huntington's disease: progress toward effective disease-modifying treatments and a cure Human Molecular Genetics 2010 19 1 R98 R102
-
(2010)
Human Molecular Genetics
, vol.19
, Issue.1
-
-
Johnson, C.D.1
Davidson, B.L.2
-
124
-
-
77956069555
-
Huntington's disease
-
article c3109
-
Novak M. J., Tabrizi S. J., Huntington's disease BMJ 2010 340 article c3109
-
(2010)
BMJ
, vol.340
-
-
Novak, M.J.1
Tabrizi, S.J.2
-
125
-
-
80955143534
-
Human pluripotent stem cell therapy for Huntington's disease: Technical, immunological, and safety challenges
-
Nicoleau C., Viegas P., Peschanski M., Perrier A. L., Human pluripotent stem cell therapy for Huntington's disease: technical, immunological, and safety challenges Neurotherapeutics 2011 8 4 562 576
-
(2011)
Neurotherapeutics
, vol.8
, Issue.4
, pp. 562-576
-
-
Nicoleau, C.1
Viegas, P.2
Peschanski, M.3
Perrier, A.L.4
-
127
-
-
33847673272
-
Cell transplantation for Huntington's disease. Should we continue?
-
DOI 10.1016/j.brainresbull.2006.10.019, PII S0361923006003224
-
Dunnett S. B., Rosser A. E., Cell transplantation for Huntington's disease. Should we continue? Brain Research Bulletin 2007 72 23 132 147 (Pubitemid 46367459)
-
(2007)
Brain Research Bulletin
, vol.72
, Issue.23
, pp. 132-147
-
-
Dunnett, S.B.1
Rosser, A.E.2
-
128
-
-
84873337576
-
Characterization of human Huntington's disease cell model from induced pluripotent stem cells
-
Zhang N., An M. C., Montoro D., Ellerby L. M., Characterization of human Huntington's disease cell model from induced pluripotent stem cells PLoS Currents 2010 2
-
(2010)
PLoS Currents
, vol.2
-
-
Zhang, N.1
An, M.C.2
Montoro, D.3
Ellerby, L.M.4
-
129
-
-
77957916358
-
Reprogramming huntington monkey skin cells into pluripotent stem cells
-
Chan A. W. S., Cheng P. H., Neumann A., Yang J. J., Reprogramming huntington monkey skin cells into pluripotent stem cells Cellular Reprogramming 2010 12 5 509 517
-
(2010)
Cellular Reprogramming
, vol.12
, Issue.5
, pp. 509-517
-
-
Chan, A.W.S.1
Cheng, P.H.2
Neumann, A.3
Yang, J.J.4
-
130
-
-
84861203696
-
Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington's disease patient cells
-
article 17
-
Juopperi T. A., Kim W. R., Chiang C. H., Yu H., Margolis R. L., Ross C. A., Ming G. L., Song H., Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington's disease patient cells Molecular Brain 2012 5 article 17
-
(2012)
Molecular Brain
, vol.5
-
-
Juopperi, T.A.1
Kim, W.R.2
Chiang, C.H.3
Yu, H.4
Margolis, R.L.5
Ross, C.A.6
Ming, G.L.7
Song, H.8
-
131
-
-
62549117369
-
Friedreich ataxia: The clinical picture
-
supplement 1
-
Pandolfo M., Friedreich ataxia: the clinical picture Journal of Neurology 2009 256 supplement 1 3 8
-
(2009)
Journal of Neurology
, vol.256
, pp. 3-8
-
-
Pandolfo, M.1
-
132
-
-
67649213875
-
Diagnosis and treatment of Friedreich ataxia: A european perspective
-
Schulz J. B., Boesch S., Brk K., Drr A., Giunti P., Mariotti C., Pousset F., Schls L., Vankan P., Pandolfo M., Diagnosis and treatment of Friedreich ataxia: a european perspective Nature Reviews Neurology 2009 5 4 222 234
-
(2009)
Nature Reviews Neurology
, vol.5
, Issue.4
, pp. 222-234
-
-
Schulz, J.B.1
Boesch, S.2
Brk, K.3
Drr, A.4
Giunti, P.5
Mariotti, C.6
Pousset, F.7
Schls, L.8
Vankan, P.9
Pandolfo, M.10
-
133
-
-
54049142098
-
Friedreich ataxia
-
Pandolfo M., Friedreich ataxia Archives of Neurology 2008 65 10 1296 1303
-
(2008)
Archives of Neurology
, vol.65
, Issue.10
, pp. 1296-1303
-
-
Pandolfo, M.1
-
134
-
-
44949208513
-
DNA triplexes and Friedreich ataxia
-
DOI 10.1096/fj.07-097857
-
Wells R. D., DNA triplexes and Friedreich ataxia FASEB Journal 2008 22 6 1625 1634 (Pubitemid 351811441)
-
(2008)
FASEB Journal
, vol.22
, Issue.6
, pp. 1625-1634
-
-
Wells, R.D.1
-
135
-
-
77950354456
-
Friedreich ataxia: An update on animal models, frataxin function and therapies
-
Gonzlez-Cabo P., Vicente Llorens J., Palau F., Dolores Molt M., Friedreich ataxia: an update on animal models, frataxin function and therapies AdVances in Experimental Medicine and Biology 2009 652 247 261
-
(2009)
AdVances in Experimental Medicine and Biology
, vol.652
, pp. 247-261
-
-
Gonzlez-Cabo, P.1
Vicente Llorens, J.2
Palau, F.3
Dolores Molt, M.4
-
136
-
-
62549093116
-
The pathogenesis of Friedreich ataxia and the structure and function of frataxin
-
supplement 1
-
Pandolfo M., Pastore A., The pathogenesis of Friedreich ataxia and the structure and function of frataxin Journal of Neurology 2009 256 supplement 1 9 17
-
(2009)
Journal of Neurology
, vol.256
, pp. 9-17
-
-
Pandolfo, M.1
Pastore, A.2
-
137
-
-
78049512763
-
Friedreich's ataxia induced pluripotent stem cells model intergenerational GAATTC triplet repeat instability
-
Ku S., Soragni E., Campau E., Thomas E. A., Altun G., Laurent L. C., Loring J. F., Napierala M., Gottesfeld J. M., Friedreich's ataxia induced pluripotent stem cells model intergenerational GAATTC triplet repeat instability Cell Stem Cell 2010 7 5 631 637
-
(2010)
Cell Stem Cell
, vol.7
, Issue.5
, pp. 631-637
-
-
Ku, S.1
Soragni, E.2
Campau, E.3
Thomas, E.A.4
Altun, G.5
Laurent, L.C.6
Loring, J.F.7
Napierala, M.8
Gottesfeld, J.M.9
-
138
-
-
79960331887
-
Generation of induced pluripotent stem cell lines from friedreich ataxia patients
-
Liu J., Verma P. J., Evans-Galea M. V., Delatycki M. B., Michalska A., Leung J., Crombie D., Sarsero J. P., Williamson R., Dottori M., Pébay A., Generation of induced pluripotent stem cell lines from friedreich ataxia patients Stem Cell Reviews and Reports 2011 7 3 703 713
-
(2011)
Stem Cell Reviews and Reports
, vol.7
, Issue.3
, pp. 703-713
-
-
Liu, J.1
Verma, P.J.2
Evans-Galea, M.V.3
Delatycki, M.B.4
Michalska, A.5
Leung, J.6
Crombie, D.7
Sarsero, J.P.8
Williamson, R.9
Dottori, M.10
Pébay, A.11
-
139
-
-
79957861210
-
Machado-Joseph disease: From first descriptions to new perspectives
-
ARTICLE NO. 35
-
Bettencourt C., Lima M., Machado-Joseph disease: from first descriptions to new perspectives Orphanet Journal of Rare Diseases 2011 6 1, article no. 35
-
(2011)
Orphanet Journal of Rare Diseases
, vol.6
, Issue.1
-
-
Bettencourt, C.1
Lima, M.2
-
140
-
-
79960668226
-
Polyglutamine diseases: The special case of ataxin-3 and Machado-Joseph disease
-
Matos C. A., de Macedo-Ribeiro S., Carvalho A. L., Polyglutamine diseases: the special case of ataxin-3 and Machado-Joseph disease Progress in Neurobiology 2011 95 1 26 48
-
(2011)
Progress in Neurobiology
, vol.95
, Issue.1
, pp. 26-48
-
-
Matos, C.A.1
De Macedo-Ribeiro, S.2
Carvalho, A.L.3
-
141
-
-
42649118505
-
New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease)
-
DOI 10.1097/WCO.0b013e3282f7673d, PII 0001905220080400000002
-
Rb U., Brunt E. R., Deller T., New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease) Current Opinion in Neurology 2008 21 2 111 116 (Pubitemid 351644149)
-
(2008)
Current Opinion in Neurology
, vol.21
, Issue.2
, pp. 111-116
-
-
Rub, U.1
Brunt, E.R.2
Deller, T.3
-
142
-
-
34147131206
-
Dominantly inherited ataxias: Lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3
-
DOI 10.1055/s-2007-971172
-
Paulson H. L., Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3 Seminars in Neurology 2007 27 2 133 142 (Pubitemid 46564474)
-
(2007)
Seminars in Neurology
, vol.27
, Issue.2
, pp. 133-142
-
-
Paulson, H.L.1
-
143
-
-
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., Tting T., Hoffmann P., Klockgether T., Evert B. O., Wllner U., Brstle O., Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease Nature 2011 480 7378 543 546
-
(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
Tting, T.10
Hoffmann, P.11
Klockgether, T.12
Evert, B.O.13
Wllner, U.14
Brstle, O.15
-
144
-
-
77953216242
-
General aspects and neuropathology of X-linked adrenoleukodystrophy
-
Ferrer I., Aubourg P., Pujol A., General aspects and neuropathology of X-linked adrenoleukodystrophy Brain Pathology 2010 20 4 817 830
-
(2010)
Brain Pathology
, vol.20
, Issue.4
, pp. 817-830
-
-
Ferrer, I.1
Aubourg, P.2
Pujol, A.3
-
145
-
-
77953228906
-
Biochemical aspects of X-linked adrenoleukodystrophy
-
Kemp S., WanDers R., Biochemical aspects of X-linked adrenoleukodystrophy Brain Pathology 2010 20 4 831 837
-
(2010)
Brain Pathology
, vol.20
, Issue.4
, pp. 831-837
-
-
Kemp, S.1
WanDers, R.2
-
146
-
-
33846942956
-
X-linked adrenoleukodystrophy: Very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment
-
Kemp S., WanDers R. J. A., X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment Molecular Genetics and Metabolism 2007 90 3 268 276
-
(2007)
Molecular Genetics and Metabolism
, vol.90
, Issue.3
, pp. 268-276
-
-
Kemp, S.1
WanDers, R.J.A.2
-
147
-
-
33947125154
-
X-linked adrenoleukodystrophy
-
DOI 10.1038/ncpneuro0421, PII NCPNEURO0421
-
Moser H. W., Mahmood A., Raymond G. V., X-linked adrenoleukodystrophy Nature Clinical Practice Neurology 2007 3 3 140 151 (Pubitemid 46403941)
-
(2007)
Nature Clinical Practice Neurology
, vol.3
, Issue.3
, pp. 140-151
-
-
Moser, H.W.1
Mahmood, A.2
Raymond, G.V.3
-
148
-
-
23644433682
-
ABCD1 gene mutations in Chinese patients with x-linked adrenoleukodystrophy
-
DOI 10.1016/j.pediatrneurol.2005.03.006, PII S0887899405001682
-
Pan H., Xiong H., Wu Y., Zhang Y. H., Bao X. H., Jiang Y. W., Wu X. R., ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy Pediatric Neurology 2005 33 2 114 120 (Pubitemid 41116198)
-
(2005)
Pediatric Neurology
, vol.33
, Issue.2
, pp. 114-120
-
-
Pan, H.1
Xiong, H.2
Wu, Y.3
Zhang, Y.-H.4
Bao, X.-H.5
Jiang, Y.-W.6
Wu, X.-R.7
-
149
-
-
17644384467
-
X-linked adrenoleukodystrophy in Spain. IDentification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females
-
DOI 10.1111/j.1399-0004.2005.00423.x
-
Coll M. J., Palau N., Camps C., Ruiz M., Pmpols T., Girs M., X-linked adrenoleukodystrophy in Spain. IDentification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females Clinical Genetics 2005 67 5 418 424 (Pubitemid 40561492)
-
(2005)
Clinical Genetics
, vol.67
, Issue.5
, pp. 418-424
-
-
Coll, M.J.1
Palau, N.2
Camps, C.3
Ruiz, M.4
Pampols, T.5
Giros, M.6
-
150
-
-
79952127450
-
X-linked adrenoleukodystrophy: Diagnostic and follow-up system in Japan
-
Shimozawa N., Honda A., Kajiwara N., Kozawa S., Nagase T., Takemoto Y., Suzuki Y., X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan Journal of Human Genetics 2011 56 2 106 109
-
(2011)
Journal of Human Genetics
, vol.56
, Issue.2
, pp. 106-109
-
-
Shimozawa, N.1
Honda, A.2
Kajiwara, N.3
Kozawa, S.4
Nagase, T.5
Takemoto, Y.6
Suzuki, Y.7
-
151
-
-
80052560773
-
Turning skin into brain: Using patient-Derived cells to model X-linked adrenoleukodystrophy
-
Parent J. M., Turning skin into brain: using patient-Derived cells to model X-linked adrenoleukodystrophy Annals of Neurology 2011 70 3 350 352
-
(2011)
Annals of Neurology
, vol.70
, Issue.3
, pp. 350-352
-
-
Parent, J.M.1
-
152
-
-
80052579389
-
Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients
-
Jang J., Kang H. C., Kim H. S., Kim J. Y., Huh Y. J., Kim D. S., Yoo J. E., Lee J. A., Lim B., Lee J., Yoon T. M., Park I. H., Hwang D. Y., Daley G. Q., Kim D. W., Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients Annals of Neurology 2011 70 350 352
-
(2011)
Annals of Neurology
, vol.70
, pp. 350-352
-
-
Jang, J.1
Kang, H.C.2
Kim, H.S.3
Kim, J.Y.4
Huh, Y.J.5
Kim, D.S.6
Yoo, J.E.7
Lee, J.A.8
Lim, B.9
Lee, J.10
Yoon, T.M.11
Park, I.H.12
Hwang, D.Y.13
Daley, G.Q.14
Kim, D.W.15
-
153
-
-
79952747862
-
Alzheimer's disease
-
Ballard C., Gauthier S., Corbett A., Brayne C., Aarsland D., Jones E., Alzheimer's disease The Lancet 2011 377 9770 1019 1031
-
(2011)
The Lancet
, vol.377
, Issue.9770
, pp. 1019-1031
-
-
Ballard, C.1
Gauthier, S.2
Corbett, A.3
Brayne, C.4
Aarsland, D.5
Jones, E.6
-
155
-
-
84856249151
-
Amyloid- and taua toxic pas de deux in Alzheimer's disease
-
Ittner L. M., Gtz J., Amyloid- and taua toxic pas de deux in Alzheimer's disease Nature Reviews Neuroscience 2011 12 2 67 72
-
(2011)
Nature Reviews Neuroscience
, vol.12
, Issue.2
, pp. 67-72
-
-
Ittner, L.M.1
Gtz, J.2
-
156
-
-
80052976997
-
Alzheimer's disease: Implications of the updated diagnostic and research criteria
-
Reiman E. M., McKhann G. M., Albert M. S., Sperling R. A., Petersen R. C., Blacker D., Alzheimer's disease: implications of the updated diagnostic and research criteria Journal of Clinical Psychiatry 2011 72 9 1190 1196
-
(2011)
Journal of Clinical Psychiatry
, vol.72
, Issue.9
, pp. 1190-1196
-
-
Reiman, E.M.1
McKhann, G.M.2
Albert, M.S.3
Sperling, R.A.4
Petersen, R.C..5
Blacker, D.6
-
158
-
-
79957604912
-
Genetics of Alzheimer's disease: New eviDences for an old hypothesis?
-
Lambert J. C., Amouyel P., Genetics of Alzheimer's disease: new eviDences for an old hypothesis? Current Opinion in Genetics and Development 2011 21 3 295 301
-
(2011)
Current Opinion in Genetics and Development
, vol.21
, Issue.3
, pp. 295-301
-
-
Lambert, J.C.1
Amouyel, P.2
-
159
-
-
66249141948
-
Chapter 9 Alzheimer's disease genetics. Current status and future perspectives
-
Bertram L., Chapter 9 Alzheimer's disease genetics. Current status and future perspectives International Review of Neurobiology 2009 84 167 184
-
(2009)
International Review of Neurobiology
, vol.84
, pp. 167-184
-
-
Bertram, L.1
-
160
-
-
52449089987
-
Thirty years of Alzheimer's disease genetics: The implications of systematic meta-analyses
-
Bertram L., Tanzi R. E., Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses Nature Reviews Neuroscience 2008 9 10 768 778
-
(2008)
Nature Reviews Neuroscience
, vol.9
, Issue.10
, pp. 768-778
-
-
Bertram, L.1
Tanzi, R.E.2
-
162
-
-
81255169342
-
Modeling familial Alzheimer's disease with induced pluripotent stem cells
-
Yagi T., Ito D., Okada Y., Akamatsu W., Nihei Y., Yoshizaki T., Yamanaka
-
(2011)
Human Molecular Genetics
, vol.20
, Issue.23
, pp. 4530-4539
-
-
Yagi, T.1
Ito, D.2
Okada, Y.3
Akamatsu, W.4
Nihei, Y.5
Yoshizaki, T.6
Yamanaka, S.7
Okano, H.8
Suzuki, N.9
-
163
-
-
84856956771
-
Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells
-
Israel M. A., Yuan S. H., Bardy C., Reyna S. M., Mu Y., Herrera C., Hefferan M. P., Van Gorp S., Nazor K. L., Boscolo F. S., Carson C. T., Laurent L. C., Marsala M., Gage F. H., Remes A. M., Koo E. H., Goldstein L. B., Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells Nature 2012 482 7384 216 220
-
(2012)
Nature
, vol.482
, Issue.7384
, pp. 216-220
-
-
Israel, M.A.1
Yuan, S.H.2
Bardy, C.3
Reyna, S.M.4
Mu, Y.5
Herrera, C.6
Hefferan, M.P.7
Van Gorp, S.8
Nazor, K.L.9
Boscolo, F.S.10
Carson, C.T.11
Laurent, L.C.12
Marsala, M.13
Gage, F.H.14
Remes, A.M.15
Koo, E.H.16
Goldstein, L.B.17
-
164
-
-
84861589603
-
Presenilin-1 L166P mutant human pluripotent stem cell-Derived neurons exhibit partial loss of Secretase activity in endogenous amyloid- generation
-
Koch P., Tamboli I. Y., Mertens J., WunDerlich P., Ladewig J., Stber K., Esselmann H., Wiltfang J., Brstle O., Walter J., Presenilin-1 L166P mutant human pluripotent stem cell-Derived neurons exhibit partial loss of Secretase activity in endogenous amyloid- generation American Journal of Pathology 2012 180 6 2404 2416
-
(2012)
American Journal of Pathology
, vol.180
, Issue.6
, pp. 2404-2416
-
-
Koch, P.1
Tamboli, I.Y.2
Mertens, J.3
WunDerlich, P.4
Ladewig, J.5
Stber, K.6
Esselmann, H.7
Wiltfang, J.8
Brstle, O.9
Walter, J.10
-
165
-
-
79957606041
-
Etiology and pathogenesis of Parkinson's disease
-
Schapira A. H., Jenner P., Etiology and pathogenesis of Parkinson's disease Movement DisorDers 2011 26 6 1049 1055
-
(2011)
Movement DisorDers
, vol.26
, Issue.6
, pp. 1049-1055
-
-
Schapira, A.H.1
Jenner, P.2
-
167
-
-
80054787664
-
What genetics tells us about the causes and mechanisms of Parkinson's disease
-
Corti O., Lesage S., Brice A., What genetics tells us about the causes and mechanisms of Parkinson's disease Physiological Reviews 2011 91 4 1161 1218
-
(2011)
Physiological Reviews
, vol.91
, Issue.4
, pp. 1161-1218
-
-
Corti, O.1
Lesage, S.2
Brice, A.3
-
170
-
-
80052419902
-
Parkinson's disease induced pluripotent stem cells with triplication of the -synuclein locus
-
devine M. J., Ryten M., Vodicka P., Thomson A. J., Burdon T., HoulDen H., Cavaleri F., Nagano M., Drummond N. J., Taanman J.-W., Schapira A. H., Gwinn K., Hardy J., Lewis P. A., Kunath T., Parkinson's disease induced pluripotent stem cells with triplication of the -synuclein locus Nature Communications 2011 2 1
-
(2011)
Nature Communications
, vol.2
, Issue.1
-
-
Devine, M.J.1
Ryten, M.2
Vodicka, P.3
Thomson, A.J.4
Burdon, T.5
HoulDen, H.6
Cavaleri, F.7
Nagano, M.8
Drummond, N.J.9
Taanman, J.-W.10
Schapira, A.H.11
Gwinn, K.12
Hardy, J.13
Lewis, P.A.14
Kunath, T.15
-
171
-
-
79952172335
-
LRRK2 mutant iPSC-Derived da neurons demonstrate increased susceptibility to oxidative stress
-
Nguyen H. N., Byers B., Cord B., Shcheglovitov A., Byrne J., Gujar P., Kee K., Schle B., Dolmetsch R. E., Langston W., Palmer T. D., Pera R. R., LRRK2 mutant iPSC-Derived da neurons demonstrate increased susceptibility to oxidative stress Cell Stem Cell 2011 8 3 267 280
-
(2011)
Cell Stem Cell
, vol.8
, Issue.3
, pp. 267-280
-
-
Nguyen, H.N.1
Byers, B.2
Cord, B.3
Shcheglovitov, A.4
Byrne, J.5
Gujar, P.6
Kee, K.7
Schle, B.8
Dolmetsch, R.E.9
Langston, W.10
Palmer, T.D.11
Pera, R.R.12
-
172
-
-
79955786943
-
Mitochondrial parkin recruitment is impaired in neurons Derived from mutant PINK1 induced pluripotent stem cells
-
Seibler P., Graziotto J., Jeong H., Simunovic F., Klein C., Krainc D., Mitochondrial parkin recruitment is impaired in neurons Derived from mutant PINK1 induced pluripotent stem cells Journal of Neuroscience 2011 31 16 5970 5976
-
(2011)
Journal of Neuroscience
, vol.31
, Issue.16
, pp. 5970-5976
-
-
Seibler, P.1
Graziotto, J.2
Jeong, H.3
Simunovic, F.4
Klein, C.5
Krainc, D.6
-
173
-
-
79960833952
-
Generation of isogenic pluripotent stem cells differing exclusively at two early onset parkinson point mutations
-
Soldner F., Laganire J., Cheng A. W., Hockemeyer D., Gao Q., Alagappan R., Khurana V., Golbe L. I., Myers R. H., Lindquist S., Zhang L., Guschin D., Fong L. K., Vu B. J., Meng X., Urnov F. D., Rebar E. J., Gregory P. D., Zhang H. S., Jaenisch R., Generation of isogenic pluripotent stem cells differing exclusively at two early onset parkinson point mutations Cell 2011 146 2 318 331
-
(2011)
Cell
, vol.146
, Issue.2
, pp. 318-331
-
-
Soldner, F.1
Laganire, J.2
Cheng, A.W.3
Hockemeyer, D.4
Gao, Q.5
Alagappan, R.6
Khurana, V.7
Golbe, L.I.8
Myers, R.H.9
Lindquist, S.10
Zhang, L.11
Guschin, D.12
Fong, L.K.13
Vu, B.J.14
Meng, X.15
Urnov, F.D.16
Rebar, E.J.17
Gregory, P.D.18
Zhang, H.S.19
Jaenisch, R.20
more..
-
174
-
-
84863393846
-
Parkin controls dopamine utilization in human midbrain dopaminergic neurons Derived from induced pluripotent stem cells
-
Jiang H., Ren Y., Yuen E. Y., Zhong P., Ghaedi M., Hu Z., Azabdaftari G., Nakaso K., Yan Z., Feng J., Parkin controls dopamine utilization in human midbrain dopaminergic neurons Derived from induced pluripotent stem cells Nature Communications 2012 3
-
(2012)
Nature Communications
, vol.3
-
-
Jiang, H.1
Ren, Y.2
Yuen, E.Y.3
Zhong, P.4
Ghaedi, M.5
Hu, Z.6
Azabdaftari, G.7
Nakaso, K.8
Yan, Z.9
Feng, J.10
-
175
-
-
84860510280
-
Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease
-
Snchez-Danés A., Richaud-Patin Y., Carballo-Carbajal I., Jiménez-delgado S., Caig C., Mora S., Di Guglielmo C., Ezquerra M., Patel B., Giralt A., Canals J. M., Memo M., Alberch J., Lpez-Barneo J., Vila M., Cuervo A. M., Tolosa E., Consiglio A., Raya A., Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease EMBO Molecular Medicine 2012 4 5 380 395
-
(2012)
EMBO Molecular Medicine
, vol.4
, Issue.5
, pp. 380-395
-
-
Snchez-Danés, A.1
Richaud-Patin, Y.2
Carballo-Carbajal, I.3
Jiménez-delgado, S.4
Caig, C.5
Mora, S.6
Di Guglielmo, C.7
Ezquerra, M.8
Patel, B.9
Giralt, A.10
Canals, J.M.11
Memo, M.12
Alberch, J.13
Lpez-Barneo, J.14
Vila, M.15
Cuervo, A.M.16
Tolosa, E.17
Consiglio, A.18
Raya, A.19
-
176
-
-
59649112350
-
Reprogramming therapeutics: IPS cell prospects for neurodegenerative Disease
-
Abeliovich A., Doege C. A., Reprogramming therapeutics: iPS cell prospects for neurodegenerative Disease Neuron 2009 61 3 337 339
-
(2009)
Neuron
, vol.61
, Issue.3
, pp. 337-339
-
-
Abeliovich, A.1
Doege, C.A.2
-
177
-
-
79958260092
-
The human brain in a dish: The promise of iPSC-Derived neurons
-
Dolmetsch R., Geschwind D. H., The human brain in a dish: the promise of iPSC-Derived neurons Cell 2011 145 6 831 834
-
(2011)
Cell
, vol.145
, Issue.6
, pp. 831-834
-
-
Dolmetsch, R.1
Geschwind, D.H.2
-
178
-
-
77957670482
-
Differentiated Parkinson patient-Derived induced pluripotent stem cells grow in the adult roDent brain and reduce motor asymmetry in Parkinsonian rats
-
Hargus G., Cooper O., Deleidi M., Levy A., Lee K., Marlow E., Yow A., Soldner F., Hockemeyer D., Hallett P. J., Osborn T., Jaenisch R., Isacson O., Differentiated Parkinson patient-Derived induced pluripotent stem cells grow in the adult roDent brain and reduce motor asymmetry in Parkinsonian rats Proceedings of the National Academy of Sciences of the United States of America 2010 107 36 15921 15926
-
(2010)
Proceedings of the National Academy of Sciences of the United States of America
, vol.107
, Issue.36
, pp. 15921-15926
-
-
Hargus, G.1
Cooper, O.2
Deleidi, M.3
Levy, A.4
Lee, K.5
Marlow, E.6
Yow, A.7
Soldner, F.8
Hockemeyer, D.9
Hallett, P.J.10
Osborn, T.11
Jaenisch, R.12
Isacson, O.13
-
179
-
-
42649130264
-
Neurons Derived from reprogrammed fibroblasts functionally integrate into the fetal brain and improve symptoms of rats with Parkinson's disease
-
DOI 10.1073/pnas.0801677105
-
Wernig M., Zhao J. P., Pruszak J., Hedlund E., Fu D., Soldner F., Broccoli V., Constantine-Paton M., Isacson O., Jaenisch R., Neurons Derived from reprogrammed fibroblasts functionally integrate into the fetal brain and improve symptoms of rats with Parkinson's disease Proceedings of the National Academy of Sciences of the United States of America 2008 105 15 5856 5861 (Pubitemid 351758462)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.15
, pp. 5856-5861
-
-
Wernig, M.1
Zhao, J.-P.2
Pruszak, J.3
Hedlund, E.4
Fu, D.5
Soldner, F.6
Broccoli, V.7
Constantine-Paton, M.8
Isacson, O.9
Jaenisch, R.10
-
180
-
-
77955843524
-
Neurodegenerative disease-specific induced pluripotent stem cell research
-
Inoue H., Neurodegenerative disease-specific induced pluripotent stem cell research Experimental Cell Research 2010 316 16 2560 2564
-
(2010)
Experimental Cell Research
, vol.316
, Issue.16
, pp. 2560-2564
-
-
Inoue, H.1
-
181
-
-
62949220231
-
Molecules that promote or enhance reprogramming of somatic cells to induced pluripotent stem cells
-
Feng B., Ng J. H., Heng J. C. D., Ng H. H., Molecules that promote or enhance reprogramming of somatic cells to induced pluripotent stem cells Cell Stem Cell 2009 4 4 301 312
-
(2009)
Cell Stem Cell
, vol.4
, Issue.4
, pp. 301-312
-
-
Feng, B.1
Ng, J.H.2
Heng, J.C.D.3
Ng, H.H.4
-
182
-
-
55849115999
-
Induced pluripotent stem cells generated without viral integration
-
Stadtfeld M., Nagaya M., Utikal J., Weir G., Hochedlinger K., Induced pluripotent stem cells generated without viral integration Science 2008 322 5903 945 949
-
(2008)
Science
, vol.322
, Issue.5903
, pp. 945-949
-
-
Stadtfeld, M.1
Nagaya, M.2
Utikal, J.3
Weir, G.4
Hochedlinger, K.5
-
183
-
-
70349206185
-
Induction of stem cell gene expression in adult human fibroblasts without transgenes
-
Page R. L., Ambady S., Holmes W. F., Vilner L., Kole D., Kashpur O., Huntress V., Vojtic I., Whitton H., Dominko T., Induction of stem cell gene expression in adult human fibroblasts without transgenes Cloning and Stem Cells 2009 11 3 417 426
-
(2009)
Cloning and Stem Cells
, vol.11
, Issue.3
, pp. 417-426
-
-
Page, R.L.1
Ambady, S.2
Holmes, W.F.3
Vilner, L.4
Kole, D.5
Kashpur, O.6
Huntress, V.7
Vojtic, I.8
Whitton, H.9
Dominko, T.10
-
184
-
-
55849117368
-
Generation of mouse induced pluripotent stem cells without viral vectors
-
Okita K., Nakagawa M., Hyenjong H., Ichisaka T., Yamanaka S., Generation of mouse induced pluripotent stem cells without viral vectors Science 2008 322 5903 949 953
-
(2008)
Science
, vol.322
, Issue.5903
, pp. 949-953
-
-
Okita, K.1
Nakagawa, M.2
Hyenjong, H.3
Ichisaka, T.4
Yamanaka, S.5
-
185
-
-
65449154892
-
Generation of transgene-free induced pluripotent mouse stem cells by the piggyBac transposon
-
Yusa K., Rad R., Takeda J., Bradley A., Generation of transgene-free induced pluripotent mouse stem cells by the piggyBac transposon Nature Methods 2009 6 5 363 369
-
(2009)
Nature Methods
, vol.6
, Issue.5
, pp. 363-369
-
-
Yusa, K.1
Rad, R.2
Takeda, J.3
Bradley, A.4
-
186
-
-
43249110200
-
Lewy bodies in grafted neurons in subjects with Parkinson's disease suggest host-to-graft disease propagation
-
DOI 10.1038/nm1746, PII NM1746
-
Li J. Y., Englund E., Holton J. L., Soulet D., Hagell P., Lees A. J., Lashley T., Quinn N. P., Rehncrona S., Bjrklund A., Widner H., Revesz T., Lindvall O., Brundin P., Lewy bodies in grafted neurons in subjects with Parkinson's disease suggest host-to-graft disease propagation Nature Medicine 2008 14 5 501 503 (Pubitemid 351655211)
-
(2008)
Nature Medicine
, vol.14
, Issue.5
, pp. 501-503
-
-
Li, J.-Y.1
Englund, E.2
Holton, J.L.3
Soulet, D.4
Hagell, P.5
Lees, A.J.6
Lashley, T.7
Quinn, N.P.8
Rehncrona, S.9
Bjorklund, A.10
Widner, H.11
Revesz, T.12
Lindvall, O.13
Brundin, P.14
-
187
-
-
70350061951
-
Neuroscience in the era of functional genomics and systems biology
-
Geschwind D. H., Konopka G., Neuroscience in the era of functional genomics and systems biology Nature 2009 461 7266 908 915
-
(2009)
Nature
, vol.461
, Issue.7266
, pp. 908-915
-
-
Geschwind, D.H.1
Konopka, G.2
|