关注
Kenneth Fischbeck
Kenneth Fischbeck
NINDS, NIH
在 ninds.nih.gov 的电子邮件经过验证
标题
引用次数
引用次数
年份
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
HL Paulson, MK Perez, Y Trottier, JQ Trojanowski, SH Subramony, ...
Neuron 19 (2), 333-344, 1997
10101997
Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila
JM Warrick, HL Paulson, GL Gray-Board, QT Bui, KH Fischbeck, ...
Cell 93 (6), 939-949, 1998
8271998
CREB-binding protein sequestration by expanded polyglutamine
A McCampbell, JP Taylor, AA Taye, J Robitschek, M Li, J Walcott, D Merry, ...
Human molecular genetics 9 (14), 2197-2202, 2000
6872000
Trinucleotide repeats in neurogenetic disorders
HL Paulson, KH Fischbeck
Annual review of neuroscience 19 (1), 79-107, 1996
4221996
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
G Landouré, AA Zdebik, TL Martinez, BG Burnett, HC Stanescu, H Inada, ...
Nature genetics 42 (2), 170-174, 2010
3632010
Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain
HL Paulson, SS Das, PB Crino, MK Perez, SC Patel, D Gotsdiner, ...
Annals of Neurology: Official Journal of the American Neurological …, 1997
3351997
Trinucleotide repeat expansion in neurological disease
AR La Spada, HL Paulson, KH Fischbeck
Annals of Neurology: Official Journal of the American Neurological …, 1994
2521994
Transient central nervous system white matter abnormality in X‐linked Charcot‐Marie‐Tooth disease
HL Paulson, JY Garbern, TF Hoban, KM Krajewski, RA Lewis, ...
Annals of Neurology: Official Journal of the American Neurological …, 2002
1782002
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
M Zimoń, J Baets, M Auer-Grumbach, J Berciano, A Garcia, E Lopez-Laso, ...
Brain 133 (6), 1798-1809, 2010
1512010
A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo
A Vester, G Velez‐Ruiz, HM McLaughlin, ...
Human mutation 34 (1), 191-199, 2013
1432013
A cell culture model for androgen effects in motor neurons
BP Brooks, DE Merry, HL Paulson, AP Lieberman, DL Kolson, ...
Journal of neurochemistry 70 (3), 1054-1060, 1998
1211998
Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system
BP Brooks, HL Paulson, DE Merry, EF Salazar-Grueso, AO Brinkmann, ...
Neurobiology of disease 3 (4), 313-323, 1997
1161997
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12
G Landouré, PP Zhu, CM Lourenço, JO Johnson, C Toro, KV Bricceno, ...
Human mutation 34 (10), 1357-1360, 2013
992013
Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia
C Rinaldi, T Schmidt, AJ Situ, JO Johnson, PR Lee, K Chen, LC Bott, ...
JAMA neurology 72 (5), 561-570, 2015
832015
Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa
M Sangaré, B Hendrickson, HA Sango, K Chen, J Nofziger, A Amara, ...
Annals of neurology 75 (4), 525-532, 2014
482014
Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy
RD Guber, V Takyar, A Kokkinis, DA Fox, H Alao, I Kats, D Bakar, ...
Neurology 89 (24), 2481-2490, 2017
382017
Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial
C Grunseich, R Miller, T Swan, DJ Glass, M El Mouelhi, M Fornaro, ...
The Lancet Neurology 17 (12), 1043-1052, 2018
362018
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19
KG Meilleur, M Traoré, M Sangaré, A Britton, G Landouré, S Coulibaly, ...
Neurogenetics 11, 313-318, 2010
352010
A candidate gene for autoimmune myasthenia gravis
G Landouré, MA Knight, H Stanescu, AA Taye, Y Shi, O Diallo, ...
Neurology 79 (4), 342-347, 2012
262012
A novel mutation in the GARS gene in a Malian family with Charcot‐Marie‐Tooth disease
A Yalcouyé, SH Diallo, T Coulibaly, L Cissé, S Diallo, O Samassékou, ...
Molecular Genetics & Genomic Medicine 7 (7), e00782, 2019
242019
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