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Garth Nicholson
Garth Nicholson
Verified email at sydney.edu.au
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Year
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
C Vance, B Rogelj, T Hortobágyi, KJ De Vos, AL Nishimura, J Sreedharan, ...
Science 323 (5918), 1208-1211, 2009
29522009
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
J Sreedharan, IP Blair, VB Tripathi, X Hu, C Vance, B Rogelj, S Ackerley, ...
Science 319 (5870), 1668-1672, 2008
29502008
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
YZ Chen, CL Bennett, HM Huynh, IP Blair, I Puls, J Irobi, I Dierick, A Abel, ...
The American Journal of Human Genetics 74 (6), 1128-1135, 2004
9912004
Controversies and priorities in amyotrophic lateral sclerosis
MR Turner, O Hardiman, M Benatar, BR Brooks, A Chio, M De Carvalho, ...
The Lancet Neurology 12 (3), 310-322, 2013
6182013
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
W Van Rheenen, A Shatunov, AM Dekker, RL McLaughlin, FP Diekstra, ...
Nature genetics 48 (9), 1043-1048, 2016
5792016
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
5622018
Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis
S Vucic, GA Nicholson, MC Kiernan
Brain 131 (6), 1540-1550, 2008
4942008
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
JL Dawkins, DJ Hulme, SB Brahmbhatt, M Auer-Grumbach, GA Nicholson
Nature genetics 27 (3), 309-312, 2001
4912001
A yeast functional screen predicts new candidate ALS disease genes
J Couthouis, MP Hart, J Shorter, M DeJesus-Hernandez, R Erion, ...
Proceedings of the National Academy of Sciences 108 (52), 20881-20890, 2011
4442011
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
CJ Klein, MV Botuyan, Y Wu, CJ Ward, GA Nicholson, S Hammans, ...
Nature genetics 43 (6), 595-600, 2011
4232011
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
S Züchner, M Noureddine, M Kennerson, K Verhoeven, K Claeys, ...
Nature genetics 37 (3), 289-294, 2005
4142005
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
BN Smith, N Ticozzi, C Fallini, AS Gkazi, S Topp, KP Kenna, EL Scotter, ...
Neuron 84 (2), 324-331, 2014
4082014
The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A
LJ Valentijn, PA Bolhuis, I Zorn, JE Hoogendijk, N Van den Bosch, ...
Nature genetics 1 (3), 166-170, 1992
3841992
Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids*♦
A Penno, MM Reilly, H Houlden, M Laurá, K Rentsch, V Niederkofler, ...
Journal of biological chemistry 285 (15), 11178-11187, 2010
3832010
Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr α‐synuclein mutation
PJ Spira, DM Sharpe, G Halliday, J Cavanagh, GA Nicholson
Annals of neurology 49 (3), 313-319, 2001
3422001
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
J Couthouis, MP Hart, R Erion, OD King, Z Diaz, T Nakaya, F Ibrahim, ...
Human molecular genetics 21 (13), 2899-2911, 2012
3012012
FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis
IP Blair, KL Williams, ST Warraich, JC Durnall, AD Thoeng, J Manavis, ...
Journal of Neurology, Neurosurgery & Psychiatry 81 (6), 639-645, 2010
2832010
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
GA Nicholson, LJ Valentijn, AK Cherryson, ML Kennerson, TL Bragg, ...
Nature genetics 6 (3), 263-266, 1994
2811994
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi, BJ Kenna, ...
Nature genetics 48 (9), 1037-1042, 2016
2772016
De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)
K Hayasaka, M Himoro, Y Sawaishi, K Nanao, T Takahashi, G Takada, ...
Nature genetics 5 (3), 266-268, 1993
2651993
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