Professor Garth Nicholson

Professor
Medicine, Concord Clinical School
ANZAC Research Institute

C22 - Concord Hospital
The University of Sydney
NSW 2006 Australia

T: +61 2 9767 6796
F: +61 2 9767 6194
E:

Research interests

Finding genes causing diseases of nerve and brain, including peripheral

nerve disorders and motor neurone diseases; clinical and molecular

studies; gene mapping and screening; gene expression; cell biology of

disease.

Current national competitive grants*

2012

Investigating the pathogenesis of motor neuron disease using zebrafish models
Cole N, Nicholson G, Blair I, Laird A
NHMRC Project Grants ($419,925 over 3 years)

* Grants administered through the University of Sydney

Keywords

Nervous system diseases; Genetics

Publications

2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008

2014

   
  • Liang, C., Howells, J., Kennerson, M., Nicholson, G., Burke, D., Ng, K. (2014), Axonal excitability in X-linked dominant Charcot Marie Tooth disease. Clinical Neurophysiology. 125(6), 1261-1269. [Abstract]
  • Myers, S., Malladi, C., Hyland, R., Bautista, T., Boadle, R., Robinson, P., Nicholson, G. (2014), Mutations in the SPTLC1 Protein Cause Mitochondrial Structural Abnormalities and Endoplasmic Reticulum Stress in Lymphoblasts. DNA and Cell Biology. 33(7), 399-407. [Abstract]
  • Acosta, J., Goldsbury, C., Winnick, C., Badrock, A., Fraser, S., Laird, A., Hall, T., Don, E., Fifita, J., Blair, I., Nicholson, G., Cole, N. (2014), Mutant Human FUS Is Ubiquitously Mislocalized and Generates Persistent Stress Granules in Primary Cultured Transgenic Zebrafish Cells. PloS One. 9(6), e90572. [Abstract]

2013

   
  • Chaudhry, R., Kidambi, A., Brewer, M., Antonellis, A., Mathews, K., Nicholson, G., Kennerson, M. (2013), Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. Muscle & Nerve. 47(6), 922-924. [Abstract]
  • Takahashi, Y., Fukuda, Y., Yoshimura, J., Toyoda, A., Kurppa, K., Moritoyo, H., Belzil, V., Dion, P., Higasa, K., Doi, K., Ishiura, H., Mitsui, J., Date, H., Ahsan, B., Matsukawa, T., Ichikawa, Y., Moritoyo, T., Ikoma, M., Hashimoto, T., Kimura, F., Murayama, S., Onodera, O., Nishizawa, M., Yoshida, M., Atsuta, N., Sobue, G., Fifita, J., Williams, K., Blair, I., Nicholson, G., Gonzalez-Perez, P., Brown, R., Nomoto, M., Elenius, K., Rouleau, G., Fujiyama, A., Morishita, S., Goto, J., Tsuji, S. (2013), ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. American Journal of Human Genetics. 93(5), 900-905. [Abstract]
  • Landoure, G., Zhu, P., Lourenco, C., Johnson, J., Toro, C., Bricceno, K., Rinaldi, C., Meilleur, K., Sangare, M., Diallo, O., Pierson, T., Ishiura, H., Tsuji, S., Hein, N., Fink, J., Stoll, M., Nicholson, G., Gonzalez, M., Speziani, F., Durr, A., Stevanin, G., Biesecker, L., Accardi, J., Landis, D., Gahl, W., Traynor, B., Marques, W., Zuchner, S., Blackstone, C., Fischbeck, K., Burnett, B. (2013), Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Human Mutation. 34(10), 1357-1360. [Abstract]
  • Yang, S., Fifita, J., Williams, K., Warraich, S., Pamphlett, R., Nicholson, G., Blair, I. (2013), Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of Aging. 34(9), 2235.e7-2235.e10. [Abstract]
  • Kennerson, M., Yiu, E., Chuang, D., Kidambi, A., Tso, S., Ly, C., Chaudhry, R., Drew, A., Rance, G., Delatycki, M., Zuchner, S., Ryan, M., Nicholson, G. (2013), A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Human Molecular Genetics. 22(7), 1404-1416. [Abstract]
  • Williams, K., Fifita, J., Vucic, S., Durnall, J., Kiernan, M., Blair, I., Nicholson, G. (2013), Pathophysiological insights into ALS with C9ORF72 expansions. Journal of Neurology, Neurosurgery, and Psychiatry. 84(8), 931-935. [Abstract]
  • Turner, M., Hardiman, O., Benatar, M., Brooks, B., Chio, A., de Carvalho, M., Ince, P., Lin, C., Miller, R., Mitsumoto, H., Nicholson, G., Ravits, J., Shaw, P., Swash, M., Talbot, K., Traynor, B., Van den Berg, L., Veldink, J., Vucic, S., Kiernan, M. (2013), Controversies and priorities in amyotrophic lateral sclerosis. Lancet Neurology. 12(3), 310-322. [Abstract]
  • Klein, C., Bird, T., Ertekin-Taner, N., Lincoln, S., Hjorth, R., Wu, Y., Kwok, J., Mer, G., Dyck, P., Nicholson, G. (2013), DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology. 80(9), 824-828. [Abstract]
  • Vucic, S., Nicholson, G., Chio, A., Kiernan, M. (2013), Apparent anticipation in SOD1 familial amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14(5-6), 452-456. [Abstract]
  • Vester, A., Velez-Ruiz, G., McLaughlin, H., Lupski, J., Talbot, K., Vance, J., Zuchner, S., Roda, R., Fischbeck, K., Biesecker, L., Nicholson, G., Beg, A., Antonellis, A. (2013), A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Human Mutation. 34(1), 191-199. [Abstract]

2012

   
  • Shahrizaila, N., Goh, K., Ahmad-Annuar, A., Chaudhry, R., Ly, C., Ryan, M., Nicholson, G., Kennerson, M. (2012), A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A. Muscle & Nerve. 46(3), 454-455. [Abstract]
  • Ishiura, H., Sako, W., Yoshida, M., Kawarai, T., Tanabe, O., Goto, J., Takahashi, Y., Date, H., Mitsui, J., Ahsan, B., Ichikawa, Y., Iwata, A., Yoshino, H., Izumi, Y., Fujita, K., Maeda, K., Goto, S., Koizumi, H., Morigaki, R., Ikemura, M., Yamauchi, N., Murayama, S., Nicholson, G., Ito, H., Sobue, G., Nakagawa, M., Kaji, R., Tsuji, S. (2012), The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. American Journal of Human Genetics. 91(2), 320-329. [Abstract]
  • Williams, K., Solski, J., Nicholson, G., Blair, I. (2012), Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of Aging. 33(7), 1488.e15-1488.e16. [Abstract]
  • Couthouis, J., Hart, M., Erion, R., King, O., Diaz, Z., Nakaya, T., Ibrahim, F., Kim, H., Mojsilovic-Petrovic, J., Panossian, S., Kim, C., Frackelton, E., Solski, J., Williams, K., Clay-Falcone, D., Elman, L., McCluskey, L., Greene, R., Hakonarson, H., Kalb, R., Lee, V., Trojanowski, J., Nicholson, G., Blair, I., Bonini, N., Van Deerlin, V., Mourelatos, Z., Shorter, J., Gitler, A. (2012), Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Human Molecular Genetics. 21(13), 2899-2911. [Abstract]
  • Williams, K., Warraich, S., Yang, S., Solski, J., Fernando, R., Rouleau, G., Nicholson, G., Blair, I. (2012), UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Neurobiology of Aging. 33(10), 2527.e3-2527. [Abstract]
  • Martins, S., Soong, B., Wong, V., Giunti, P., Stevanin, G., Ranum, L., Sasaki, H., Riess, O., Tsuji, S., Coutinho, P., Amorim, A., Sequeiros, J., Nicholson, G. (2012), Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala. Archives of Neurology. 69(6), 746-751. [Abstract]
  • Chang, F., Mehta, P., Koentjoro, B., Latt, M., Blair, N., Nicholson, G., Sue, C., Fung, V. (2012), "Dancing feet dyskinesias": a clue to parkin gene mutations. Movement Disorders. 27(4), 587-588. [Abstract]
  • Solski, J., Yang, S., Nicholson, G., Luquin, N., Williams, K., Fernando, R., Pamphlett, R., Blair, I. (2012), A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis. 13(5), 465-470. [Abstract]
  • Solski, J., Williams, K., Yang, S., Nicholson, G., Blair, I. (2012), Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis. Neurobiology of aging. 33(1), 210.e9-10. [Abstract]
  • McLaughlin, H., Sakaguchi, R., Giblin, W., Wilson, T., Biesecker, L., Lupski, J., Talbot, K., Vance, J., Züchner, S., Lee, Y., Kennerson, M., Hou, Y., Nicholson, G., Antonellis, A. (2012), A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Human Mutation. 33(1), 244-253. [Abstract]

2011

   
  • Couthouis, J., Hart, M., Shorter, J., DeJesus-Hernandez, M., Erion, R., Oristano, R., Liu, A., Ramos, D., Jethava, N., Hosangadi, D., Epstein, J., Chiang, A., Diaz, Z., Nakaya, T., Ibrahim, F., Kim, H., Solski, J., Williams, K., Mojsilovic-Petrovic, J., Ingre, C., Boylan, K., Graff-Radford, N., Dickson, D., Clay-Falcone, D., Elman, L., McCluskey, L., Greene, R., Kalb, R., Lee, V., Trojanowski, J., Ludolph, A., Robberecht, W., Andersen, P., Nicholson, G., Blair, I., King, O., Bonini, N., Van Deerlin, V., Rademakers, R., Mourelatos, Z., Gitler, A. (2011), A yeast functional screen predicts new candidate ALS disease genes. Proceedings of the National Academy of Sciences of the United States of America. 108(52), 20881-20890. [Abstract]
  • Drew, A., Blair, I., Nicholson, G. (2011), Molecular Genetics and Mechanisms of Disease in Distal Hereditary Motor Neuropathies: Insights Directing Future Genetic Studies. Current molecular medicine. 11(8), 650-65. [Abstract]
  • Rivière, J., Ramalingam, S., Lavastre, V., Shekarabi, M., Holbert, S., Lafontaine, J., Srour, M., Merner, N., Rochefort, D., Hince, P., Gaudet, R., Mes-Masson, A., Baets, J., Houlden, H., Brais, B., Nicholson, G., Van Esch, H., Nafissi, S., De Jonghe, P., Reilly, M., Timmerman, V., Dion, P., Rouleau, G. (2011), KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. American Journal of Human Genetics. 89(2), 219-230. [Abstract]
  • Nicholson, G., Lenk, G., Reddel, S., Grant, A., Towne, C., Ferguson, C., Simpson, E., Scheuerle, A., Yasick, M., Hoffman, S., Blouin, R., Brandt, C., Coppola, G., Biesecker, L., Batish, S., Meisler, M. (2011), Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P??? phosphatase FIG4. Brain. 134(Pt 7), 1959-1971. [Abstract]
  • Klein, C., Botuyan, M., Wu, Y., Ward, C., Nicholson, G., Hammans, S., Hojo, K., Yamanishi, H., Karpf, A., Wallace, D., Simon, M., Lander, C., Boardman, L., Cunningham, J., Smith, G., Litchy, W., Boes, B., Atkinson, E., Middha, S., B Dyck, P., Parisi, J., Mer, G., Smith, D., Dyck, P. (2011), Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nature Genetics. 43(6), 595-600. [Abstract]
  • Yiu, E., Geevasinga, N., Nicholson, G., Fagan, E., Ryan, M., Ouvrier, R. (2011), A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. Neurology. 76(5), 461-466. [Abstract]

2010

   
  • McLaughlin, H., Sakaguchi, R., Liu, C., Igarashi, T., Pehlivan, D., Chu, K., Iyer, R., Cruz, P., Cherukuri, P., Hansen, N., Mullikin, J., Biesecker, L., Wilson, T., Ionasescu, V., Nicholson, G., Searby, C., Talbot, K., Vance, J., Züchner, S., Szigeti, K., Lupski, J., Hou, Y., Green, E., Antonellis, A. (2010), Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. American Journal of Human Genetics. 87(4), 560-566. [Abstract]
  • Warraich, S., Yang, S., Nicholson, G., Blair, I. (2010), TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases. The international journal of biochemistry & cell biology. 42(10), 1606-9. [Abstract]
  • Yang, S., Warraich, S., Nicholson, G., Blair, I. (2010), Fused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein. The international journal of biochemistry & cell biology. 42(9), 1408-11. [Abstract]
  • Del Porto, L., Nicholson, G., Ketheswaren, P. (2010), Correlation between muscle atrophy on MRI and manual strength testing in hereditary neuropathies. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 17(7), 874-8. [Abstract]
  • Blair, I., Williams, K., Warraich, S., Durnall, J., Thoeng, A., Manavis, J., Blumbergs, P., Vucic, S., Kiernan, M., Nicholson, G. (2010), FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. Journal of neurology, neurosurgery, and psychiatry. 81(6), 639-45. [Abstract]
  • Brewer, M., Chaudhry, R., McDowall, K., Chu, S., Kowalski, B., Polly, P., Nicholson, G., Kennerson, M. (2010), X-linked CMT: genes and gene loci in an Australian cohort. Neurogenetics. 11(2), 267-9. [Abstract]
  • Penno, A., Reilly, M., Houlden, H., Laurá, M., Rentsch, K., Niederkofler, V., Stoeckli, E., Nicholson, G., Eichler, F., Brown, R., von Eckardstein, A., Hornemann, T. (2010), Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. Journal of Biological Chemistry. 285(15), 11178-11187. [Abstract]
  • Susman, R., Quijano-Roy, S., Yang, N., Webster, R., Clarke, N., Dowling, J., Kennerson, M., Nicholson, G., Biancalana, V., Ilkovski, B., Flanigan, K., Arbuckle, S., Malladi, C., Robinson, P., Vucic, S., Mayer, M., Romero, N., Urtizberea, J., García-Bragado, F., Guicheney, P., Bitoun, M., Carlier, R., North, K. (2010), Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders. 20(4), 229-237. [Abstract]
  • Kennerson, M., Nicholson, G., Kaler, S., Kowalski, B., Mercer, J., Tang, J., Llanos, R., Chu, S., Takata, R., Speck-Martins, C., Baets, J., Almeida-Souza, L., Fischer, D., Timmerman, V., Taylor, P., Scherer, S., Ferguson, T., Bird, T., De Jonghe, P., Feely, S., Shy, M., Garbern, J. (2010), Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy. American Journal of Human Genetics. 86(3), 343-352. [Abstract]
  • Vucic, S., Nicholson, G., Kiernan, M. (2010), Cortical excitability in hereditary motor neuronopathy with pyramidal signs: comparison with ALS. Journal of Neurology, Neurosurgery and Psychiatry. 81(1), 97-100. [Abstract]

2009

   
  • Williams, K., Durnall, J., Thoeng, A., Warraich, S., Nicholson, G., Blair, I. (2009), A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred. Journal of Neurology, Neurosurgery and Psychiatry. 80(11), 1286-1288. [Abstract]
  • Claeys, K., Züchner, S., Kennerson, M., Berciano, J., Garcia, A., Verhoeven, K., Storey, E., Merory, J., Bienfait, H., Lammens, M., Nelis, E., Baets, J., De Vriendt, E., Berneman, Z., De Veuster, I., Vance, J., Nicholson, G., Timmerman, V., De Jonghe, P. (2009), Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain : a journal of neurology. 132(7), 1741-52. [Abstract]
  • Ganesamoorthy, D., Bruno, D., Schoumans, J., Storey, E., Delatycki, M., Zhu, D., Wei, M., Nicholson, G., McKinlay Gardner, R., Slater, H. (2009), Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15. Clinical Chemistry. 55(7), 1415-1418. [Abstract]
  • Hornemann, T., Penno, A., Richard, S., Nicholson, G., van Dijk, F., Rotthier, A., Timmerman, V., von Eckardstein, A. (2009), A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. Neurogenetics. 10(2), 135-143. [Abstract]
  • Vance, C., Rogelj, B., Hortobágyi, T., De Vos, K., Nishimura, A., Sreedharan, J., Hu, X., Smith, B., Ruddy, D., Wright, P., Ganesalingam, J., Williams, K., Tripathi, V., Al-Saraj, S., Al-Chalabi, A., Leigh, P., Blair, I., Nicholson, G., de Belleroche, J., Gallo, J., Miller, C., Shaw, C. (2009), Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 323(5918), 1208-1211. [Abstract]
  • Kennerson, M., Nicholson, G., Kowalski, B., Krajewski, K., El-Khechen, D., Feely, S., Chu, S., Shy, M., Garbern, J. (2009), X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. Neurology. 72(3), 246-252. [Abstract]
  • Nicholson, G., Kennerson, M., Brewer, M., Garbern, J., Shy, M. (2009), Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes. In: Inherited Neuromuscular Diseases. (pp.201-206).United States: Springer New York LLC. [Abstract]

2008

   
  • Vallat, J., Ouvrier, R., Pollard, J., Magdelaine, C., Zhu, D., Nicholson, G., Grew, S., Ryan, M., Funalot, B. (2008), Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated With Mitofusin 2 Mutations. Journal of neuropathology and experimental neurology. 67(11), 1097-102. [Abstract]
  • McNicoll, C., Latourelle, J., MacDonald, M., Lew, M., Suchowersky, O., Klein, C., Golbe, L., Mark, M., Growdon, J., Wooten, G., Watts, R., Guttman, M., Racette, B., Perlmutter, J., Ahmed, A., Shill, H., Singer, C., Saint-Hilaire, M., Massood, T., Huskey, K., DeStefano, A., Gillis, T., Mysore, J., Goldwurm, S., Pezzoli, G., Baker, K., Itin, I., Litvan, I., Nicholson, G., Corbett, A., Nance, M., Drasby, E., Isaacson, S., Burn, D., Chinnery, P., Pramstaller, P., Al-Hinti, J., Moller, A., Ostergaard, K., Sherman, S., Roxburgh, R., Snow, B., Slevin, J., Cambi, F., Gusella, J., Myers, R. (2008), Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Movement disorders : official journal of the Movement Disorder Society. 23(11), 1596-1601. [Abstract]
  • DeStefano, A., Latourelle, J., Lew, M., Suchowersky, O., Klein, C., Golbe, L., Mark, M., Growdon, J., Wooten, G., Watts, R., Guttman, M., Racette, B., Perlmutter, J., Marlor, L., Shill, H., Singer, C., Goldwurm, S., Pezzoli, G., Saint-Hilaire, M., Hendricks, A., Gower, A., Williamson, S., Nagle, M., Wilk, J., Massood, T., Huskey, K., Baker, K., Itin, I., Litvan, I., Nicholson, G., Corbett, A., Nance, M., Drasby, E., Isaacson, S., Burn, D., Chinnery, P., Pramstaller, P., Al-Hinti, J., Moller, A., Ostergaard, K., Sherman, S., Roxburgh, R., Snow, B., Slevin, J., Cambi, F., Gusella, J., Myers, R. (2008), Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Human genetics. 124(1), 95-99. [Abstract]
  • Blair, I., Vance, C., Durnall, J., Williams, K., Thoeng, A., Shaw, C., Nicholson, G. (2008), CHMP2B mutations are not a common cause of familial or sporadic ALS. Journal of neurology, neurosurgery, and psychiatry. 79(7), 849-50. [Abstract]
  • Reddel, S., Ouvrier, R., Nicholson, G., Dierick, I., Irobi, J., Timmerman, V., Ryan, M. (2008), Autosomal dominant congenital spinal muscular atrophy - A possible developmental deficiency of motor neurones?. Neuromuscular disorders : NMD. 18(7), 530-5. [Abstract]
  • Tobin, J., Latourelle, J., Lew, M., Klein, C., Suchowersky, O., Shill, H., Golbe, L., Mark, M., Growdon, J., Wooten, G., Racette, B., Perlmutter, J., Watts, R., Guttman, M., Baker, K., Goldwurm, S., Pezzoli, G., Singer, C., Saint-Hilaire, M., Hendricks, A., Williamson, S., Nagle, M., Wilk, J., Massood, T., Laramie, J., Destefano, A., Litvan, I., Nicholson, G., Corbett, A., Isaacson, S., Burn, D., Chinnery, P., Pramstaller, P., Sherman, S., Al-Hinti, J., Drasby, E., Nance, M., Moller, A., Ostergaard, K., Roxburgh, R., Snow, B., Slevin, J., Cambi, F., Gusella, J., Myers, R. (2008), Haplotypes and gene expression implicate the MAPT region for Parkinson disease. The GenePD Study. Neurology. 71(1), 28-34. [Abstract]
  • Brewer, M., Changi, F., Antonellis, A., Fischbeck, K., Polly, P., Nicholson, G., Kennerson, M. (2008), Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region. Neurogenetics. 9(3), 191-5. [Abstract]
  • Vucic, S., Nicholson, G., Kiernan, M. (2008), Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis. Brain. 131(6), 1540-1550. [Abstract]
  • Nicholson, G., Magdelaine, C., Zhu, D., Grew, S., Ryan, M., Sturtz, F., Vallat, J., Ouvrier, R. (2008), Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology. 70(19), 1678-1681. [Abstract]
  • van de Giessen, E., Fogh, I., Gopinath, S., Smith, B., Hu, X., Powell, J., Andersen, P., Nicholson, G., Al Chalabi, A., Shaw, C. (2008), Association study on glutathione S-transferase omega 1 and 2 and familial ALS. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. 9(2), 81-84. [Abstract]
  • Sreedharan, J., Blair, I., Tripathi, V., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J., Williams, K., Buratti, E., Baralle, F., de Belleroche, J., Mitchell, J., Leigh, P., Al-Chalabi, A., Miller, C., Nicholson, G., Shaw, C. (2008), TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 319(5870), 1668-1672. [Abstract]
  • Latourelle, J., Sun, M., Lew, M., Suchowersky, O., Klein, C., Golbe, L., Mark, M., Growdon, J., Wooten, G., Watts, R., Guttman, M., Racette, B., Perlmutter, J., Ahmed, A., Shill, H., Singer, C., Goldwurm, S., Pezzoli, G., Zini, M., Saint-Hilaire, M., Hendricks, A., Williamson, S., Nagle, M., Wilk, J., Massood, T., Huskey, K., Laramie, J., DeStefano, A., Baker, K., Itin, I., Litvan, I., Nicholson, G., Corbett, A., Nance, M., Drasby, E., Isaacson, S., Burn, D., Chinnery, P., Pramstaller, P., Al-hinti, J., Moller, A., Ostergaard, K., Sherman, S., Roxburgh, R., Snow, B., Slevin, J., Cambi, F., Gusella, J., Myers, R. (2008), The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC medicine. 6(0), 32. [Abstract]
  • Luty, A., Kwok, J., Thompson, E., Blumbergs, P., Brooks, W., Loy, C., Dobson-Stone, C., Panegyres, P., Hecker, J., Nicholson, G., Halliday, G., Schofield, P. (2008), Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurology. 8(0), 32. [Abstract]