Professor Garth Nicholson

Professor
Medicine, Concord Clinical School
ANZAC Research Institute

Telephone +61 2 9767 6796
Fax +61 2 9767 6194

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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.

Selected grants

2014

  • Seeking a cure for Machado Joseph disease – a prevalent neurodegenerative disease within Aboriginal communities of northeast Arnhem Land; Laird A, Nicholson G, Becker T, Giacomotto J; National Health and Medical Research Council (NHMRC)/Project Grants.
  • EVOS FL Auto cell imaging system; Nicholson G, Clark G, Zhou H, Jessup W, Le Couteur D, McMahon A, McLachlan A, Allan C, Handelsman D, Hart D, Walters K, Kritharides L, Kockx M, Kennerson M, Cooper M, Seibel M, Verma N, Silveira P, Fromm P, Simanainen U, Cogger V, Zheng Y; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2013

  • Automacs Pro Seperator; Hart D, Handelsman D, Le Couteur D, Nicholson G, Kritharides L, Zhou H, Clark G, Kennerson M, Allan C, Walters K, Cogger V, Simanainen U, Zheng Y, Seibel M; DVC Research/Equipment Grant.
  • IVIS Lumina II in vivo Imaging System; Seibel M, Handelsman D, Le Couteur D, Hart D, Nicholson G, Freedman B, Kritharides L, Jessup W, Zhou H, Clark G, Kennerson M, Allan C, Walters K, Cogger V, McMahon A, Simanainen U, Kockx M, Speranza T, Zheng Y; DVC Research/Equipment Grant.
  • Investigating the genetic basis of ALS; Nicholson G, Blair I; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Gene Identification for Inherited Peripheral Neuropathies by applying Next Generation Sequencing; Kennerson M, Nicholson G; National Health and Medical Research Council (NHMRC)/Project Grants.

2012

  • Investigating the pathogenesis of motor neuron disease using zebrafish models; Cole N, Cole N, Nicholson G, Blair I, Laird A; National Health and Medical Research Council (NHMRC)/Project Grants.

2011

  • MOLECULAR IMAGER CHEMIDoc XRS SYSTEM & MINI P ROTEAN GEL/TRANSBLOT Cell SYSTEM (BIO-RAD. AUSTRALIA; Allan C, Handelsman D, Zhou H, Seibel M, Kennerson M, Nicholson G, Blair I, Le Couteur D, McMahon A, Hart D, Clark G, Simanainen U; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • Discovering Genes for X-linked Charcot-Marie-Tooth Neuropathy; Nicholson G, Kennerson M; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Investigating the genetic basis of ALS; Blair I, Nicholson G; National Health and Medical Research Council (NHMRC)/Project Grants.

2010

  • The Lunar PIXImus II DEXA Scanner; Zhou H, Seibel M, Handelsman D, Le Couteur D, Nicholson G, Clarke S, Robertson G, van Zandwijk N, Freedman B, Kennerson M, Allan C, Walters K, Cogger V, Blair I, Reid G, Simanainen U; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2009

  • The role of mutant TDP-43 in ALS.; Blair I, Nicholson G, Hawke S; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Stereomicroscope-Imaging Workstation; Allan C, Seibel M, Handelsman D, Le Couteur D, Kennerson M, Robertson G, Walters K, Cogger V, Nicholson G, Zhou H, Blair I, Simanainen U, McMahon A; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2008

  • Mutation analysis of nevel candidate genes for X-linked Charcot Marine tooth (CMTX3) neuropathy; Kennerson M, Nicholson G; National Health and Medical Research Council (NHMRC)/Project Grants.

2007

  • Identifying novel genes involved in motor neuron degeneration; Nicholson G; University of Sydney/Bridging Support.
  • Leica CM3050 S cryostat; Seibel M, Blair J, Dunstan C, Handelsman D, Nicholson G, Kennerson M, Lowe H, Witting P, Allan C, Zhou H; University of Sydney/Major Equipment.
  • Finding the gene causing X-linked Charcot-Marie-Tooth (CMTX3) neuropathy; Kennerson M, Nicholson G; Muscular Dystrophy Association of New South Wales/Research Support.

2006

  • Cell culture quarantine and storage facility plus assessories; Dunstan C, Witting P, Myers S, Handelsman D, Seibel M, Nicholson G, Zhou H, Kennerson M, Allan C, Freedman B, Le Couteur D, Muller M; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • KODAK Image Station 2000mm Multi-Modal Imager; Seibel M, Nicholson G, Witting P, Le Couteur D, Freedman B, Dunstan C, Blair J, Kennerson M, Myers S, Muller M; University of Sydney/Major Equipment.
  • How defective dynamin 2activity causes Charcot-Tooth Disease; McCluskey A, Robinson P, Nicholson G; National Health and Medical Research Council (NHMRC)/Project Grants.

2005

  • Victor 3 Multi-label Plate Reader; Witting P, Handelsman D, Le Couteur D, Nicholson G, Seibel M, Kril J, Kritharides L, Kennerson M; University of Sydney/Major Equipment.

2004

  • Screening for the gene mutation in dominant intermediate Charcot-Marie-Tooth neuropathy; Nicholson G; DVC Research/Bridging Support Grant.
  • Digital stereo Investigator system; Handelsman D, Allan C, Le Couteur D, Nicholson G, Illingworth P, Kril J; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • OPTIMAX TLX 120 ultracentrifuge; Witting P, Handelsman D, Nicholson G, Lay P, Kritharides L, Kril J, Le Couteur D, Lowe H, Kennerson M; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2003

  • Thermomixer comfort 5355 plus assessories; Applied biosystems 96-well GeneAmp PCR system 9700; BioDocAnalyze gel documetnation and analysys system plus assessories; Nicholson G; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • Molecular genetics of hereditary motor and sensory neuropathy with pyramidal signs; Nicholson G, Kennerson M; National Health and Medical Research Council (NHMRC)/Project Grants.

2002

  • Mass spectrometry upgrade to HPLC; Kril J, Lim J, Illingworth P, Seibel M, Nicholson G, Le Couteur D, Handelsman D; Clive & Vera Ramaciotti Foundation/Awards for Biomedical Research: Major Equipment.
  • Molecular genetics of spinal cord neuropathies; Nicholson G; University of Sydney/Medicine Bridging.
  • An advanced live-cell microscopy system for the study of mechanisms of neurodegenerative diseases and screening relevant drugs; Nicholson G; Clive & Vera Ramaciotti Foundation/Awards for Biomedical Research: Major Equipment.

2001

  • Genetic bases for Charcot-Marie-Tooth and Hereditary Sensory type 1 Neuropathies; Nicholson G, Kennerson M; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Gene Mutation Screening in Parkinsons disease.; Nicholson G; Brain Foundation of Australia/Research Grants.
  • Finding the gene for hereditary sensory neuropathy: a new cause of sensory neurone degeneration; Nicholson G, Kennerson M; Rebecca L Cooper/Medical Research Foundation.

2000

  • Muscle disease research; Nicholson G; Research Donations/Generic Research.
  • Isolation of candidate cDNAs for HSN-I; Nicholson G; Muscular Dystrophy Association (USA)/Project Support.
  • Finding the gene and physical mapping of intermediate Charcot-Marie-Tooth neuropathy; Nicholson G; Rebecca L Cooper/Medical Research Foundation.
  • Gene mutation analysis in parkinsons disease using real-time PCR; Nicholson G, Kennerson M; Clive & Vera Ramaciotti Foundation/Research Grants.
  • Functional studies on the gene causing sensory neuropathy; Nicholson G; Clive & Vera Ramaciotti Foundation/Research Grants.
  • Genetic risk factors in parkinsons disease; Nicholson G; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Mapping the mutation for hereditary sensory neuropathy; Nicholson G; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Molecular genetics of Charcot-Marie-Tooth Neuropathy; Nicholson G, Ross D; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Analysis of androgen receptor gene alterations in caracinoma of the prostate; Nicholson G, Nassif N; Rebecca L Cooper Medical Research Foundation/Grants Program.

1998

  • Positional cloning of the gene for hereditary sensory neuropathy type 1; Nicholson G; National Health and Medical Research Council (NHMRC)/Project Grants.

Selected publications

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Book Chapters

  • 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 Carmen Espinos, Vicente Felipo, Francesc Palau (Eds.), Inherited Neuromuscular Diseases, (pp. 201-206). Dordrecht: Springer Science + Business Media. [More Information]

Journals

  • 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. [More Information]
  • 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), 1-9. [More Information]
  • 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. [More Information]
  • Vester, A., Velez-Ruiz, G., McLaughlin, H., Lupski, J., Talbot, K., Vance, J., Zuchner, S., Roda, R., Fischbeck, K., Biesecker, L., Nicholson, G., et al (2013). A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Human Mutation, 34(1), 191-199. [More Information]
  • Kennerson, M., Yiu, E., Chuang, D., Kidambi, A., Tso, S., Ly, C., Chaudhry, R., Drew, A., Rance, G., Delatyckl, M., Nicholson, G., et al (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. [More Information]
  • Vucic, S., Nicholson, G., Chio, A., Kiernan, M. (2013). Apparent anticipation in SOD1 familial amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14(5), 452-456. [More Information]
  • Turner, M., Hardiman, O., Benatar, M., Brooks, B., Chio, A., de Carvalho, M., Ince, P., Lin, C., Miller, R., Mitsumoto, H., Nicholson, G., Vucic, S., et al (2013). Controversies and priorities in amyotrophic lateral sclerosis. Lancet Neurology, 12(3), 310-322. [More Information]
  • Klein, C., Bird, T., Ertekin-Taner, N., Lincolin, S., Hjroth, 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. [More Information]
  • Takahashi, Y., Fukuda, Y., Yoshimura, J., Toyoda, A., Kurppa, K., Moritoyo, H., Belzil, V., Dion, P., Higasa, K., Doi, K., Fifita, J., Williams, K., Blair, I., Nicholson, G., et al (2013). ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. American Journal of Human Genetics, 93(5), 900-905. [More Information]
  • Chesi, A., Staahl, B., Jovicic, A., Couthouis, J., Fasolino, M., Raphael, A., Yamazaki, T., Elias, L., Polak, M., Kelly, C., Williams, K., Nicholson, G., Blair, I., et al (2013). Exome sequencing to identify de novo mutations in sporadic ALS trios. Nature Neuroscience, 16(7), 851-856. [More Information]
  • Landoure, G., Zhu, P., Lourenco, C., Johnson, J., Toro, C., Bricceno, K., Rinaldi, C., Meilleur, K., Sangare, M., Diallo, O., Stoll, M., Nicholson, G., et al (2013). Hereditary spastic paraplegia Type 43 (SPG43) is caused by mutation in C19orf12. Human Mutation, 34(10), 1357-1360. [More Information]
  • 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. [More Information]
  • Mitsui, J., Matsukawa, T., Ishiura, H., Fukuda, Y., Ichikawa, Y., Date, H., Ahsan, B., Nakahara, Y., Momose, Y., Takahashi, Y., Nicholson, G., et al (2013). Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy. New England Journal of Medicine, 369(3), 233-244. [More Information]
  • 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. [More Information]
  • 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 and Nerve, 47(6), 922-924. [More Information]
  • 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. [More Information]
  • Shahrizaila, N., Goh, K., Ahmad-Annuar, A., Chaudhry, R., Nicholson, G., Kennerson, M., Ly, C., Ryan, M. (2012). A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A. Muscle and Nerve, 46(3), 454-455. [More Information]
  • 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 and Frontotemporal Degeneration, 13(5), 465-470. [More Information]
  • McLaughlin, H., Sakaguchi, R., Giblin, W., Wilson, T., Biesecker, L., Lupski, J., Talbot, K., Vance, J., Zuchner, S., Lee, Y., Kennerson, M., Nicholson, G., et al (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. [More Information]
  • Couthouis, J., Hart, M., Erion, R., King, O., Diaz, Z., Nakaya, T., Ibrahim, F., Kim, H., Mojsilovic-Petrovic, J., Panossian, S., Williams, K., Nicholson, G., Blair, I., et al (2012). Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Human Molecular Genetics, 21(13), 2899-2911. [More Information]
  • 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: age-related phenomena, neurodegeneration and neuropathology, 33(1), 210.e9-210.e10. [More Information]
  • Williams, K., Solski, J., Nicholson, G., Blair, I. (2012). Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of Aging: age-related phenomena, neurodegeneration and neuropathology, 33(7), 1488.e15-1488.316. [More Information]
  • Martins, S., Soong, B., Wong, V., Giunti, P., Stevanin, G., Ranum, L., Sasaki, H., Riess, O., Tsuji, S., Coutinho, P., Nicholson, G., et al (2012). Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala. JAMA Neurology, 69(6), 746-751. [More Information]
  • Ishiura, H., Sako, W., Yoshida, M., Kawarai, T., Tanabe, O., Goto, J., Takahashi, Y., Date, H., Mitsui, J., Ahsan, B., Nicholson, G., et al (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. [More Information]
  • 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: age-related phenomena, neurodegeneration and neuropathology, 33(10), 2527.e3-2527.e10. [More Information]
  • 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, 461-466. [More Information]
  • Couthouis, J., Hart, M., Shorter, J., DeJesus-Hernandez, M., Erion, R., Oristano, R., Liu, A., Ramos, D., Jethava, N., Hosangadi, D., Nicholson, G., Blair, I., et al (2011). A yeast functional screen predicts new candidate ALS disease genes. Proceedings of the National Academy of Sciences (PNAS) of the United States of America, 108(52), 20881-20890. [More Information]
  • Nicholson, G., Lenk, G., Reddel, S., Grant, A., Towne, C., Ferguson, C., Simpson, E., Scheuerle, A., Yasick, M., Hoffman, S., et al (2011). Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4. Brain: a journal of neurology, 134(7), 1959-1971. [More Information]
  • Riviere, J., Ramalingam, S., Lavastre, V., Shekarabi, M., Holbert, S., Lafontaine, J., Srour, M., Merner, N., Rochefort, D., Hince, P., Nicholson, G., et al (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. [More Information]
  • 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), 650-665. [More Information]
  • Klein, C., Botuyan, M., Wu, Y., Ward, C., Nicholson, G., Hammans, S., Hojo, K., Yamanishi, H., Karpf, A., Wallace, D., et al (2011). Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nature Genetics, 43(6), 595-600. [More Information]
  • McLaughlin, H., Sakaguchi, R., Liu, C., Igarashi, T., Pehlivan, D., Chu, K., Iyer, R., Cruz, P., Cherukuri, P., Hansen, N., Nicholson, G., et al (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. [More Information]
  • 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, 17(7), 874-878. [More Information]
  • 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. [More Information]
  • Susman, R., Quijano-Roy, S., Yang, N., Webster, R., Clarke, N., Dowling, J., Kennerson, M., Nicholson, G., Biancalana, V., Ilkovski, B., Vucic, S., North, K., et al (2010). Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders, 20(4), 229-237. [More Information]
  • 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), 639-645. [More Information]
  • 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 and Cell Biology, 42(9), 1408-1411. [More Information]
  • Penno, A., Reilly, M., Houlden, H., Laura, M., Rentsch, K., Niederkofler, V., Stoeckli, E., Nicholson, G., Eichler, F., Brown, R., et al (2010). Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. Journal of Biological Chemistry, 285(15), 11178-11187. [More Information]
  • Kennerson, M., Nicholson, G., Kaler, S., Kowlaski, B., Mercer, J., Tang, J., Llanos, R., Chu, S., Takata, R., Speck-Martins, C., et al (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. [More Information]
  • 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 and Cell Biology, 42(10), 1606-1609. [More Information]
  • Brewer, M., Chaudhry, R., McDowall, K., Chu, S., Kowalski, B., Nicholson, G., Kennerson, M. (2010). X-linked CMT: genes and gene loci in an Australian cohort. Neurogenetics, 11(2), 267-9. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • Ganesamoorthy, D., Bruno, D., Schoumans, J., Storey, E., Delatycki, M., Zhu, D., Wei, M., Nicholson, G., 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 (Washington, DC), 55(7), 1415-1418. [More Information]
  • Vance, C., Rogelj, B., Hortobagyi, T., De Vos, K., Nishimura, A., Sreedharan, J., Hu, X., Smith, B., Ruddy, D., Wright, P., Blair, I., Nicholson, G., et al (2009). Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6. Science, 323(5918), 1208-1211. [More Information]
  • Claeys, K., Zuchner, S., Kennerson, M., Berciano, J., Garcia, A., Verhoeven, K., Storey, E., Merory, J., Bienfait, H., Lammens, M., Nicholson, G., et al (2009). Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain, 132(7), 1741-1752. [More Information]
  • 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. [More Information]
  • van de Giessen, E., Fogh, I., Gopinath, S., Smith, B., Hu, X., Powell, J., Andersen, P., Nicholson, G., Ammar, A., Shaw, C. (2008). Association study on glutathione S-transferase omega 1 and 2 and familial ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 9(2), 81-84. [More Information]
  • 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, 18(7), 530-5. [More Information]
  • Blair, I., Vance, C., Durnall, J., 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. [More Information]
  • Vucic, S., Nicholson, G., Kiernan, M. (2008). Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis. Brain, 131(6), 1540-1550. [More Information]
  • 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, 191-195. [More Information]
  • Tobin, J., Latourelle, J., Lew, M., Klein, C., Suchowersky, O., Shill, H., Golbe, L., Mark, M., Growdon, J., Nicholson, G., Corbett, A., et al (2008). Haplotypes and gene expression implicate the MAPT region for Parkinson disease The GenePD Study. Neurology, 71(1), 28-34. [More Information]
  • 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), 1097-1102. [More Information]
  • McNicoll, C., Latourelle, J., MacDonald, M., Lew, M., Suchowersky, O., Klein, C., Golbe, L., Mark, M., Growdon, J., Wooten, G., Nicholson, G., Corbett, A., et al (2008). Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Movement Disorders, 23(11), 1596-1601. [More Information]
  • Luty, A., Kwok, J., Thompson, E., Blumbergs, P., Brooks, W., Loy, C., Dobson-Stone, C., Panegyres, P., Hecker, J., Nicholson, G., et al (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(32), 1-11. [More Information]
  • DeStefano, A., Latourelle, J., Lew, M., Suchowersky, O., Klein, C., Golbe, L., Mark, M., Growdon, J., Wooten, G., Watts, R., Nicholson, G., Corbett, A., et al (2008). Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Human Genetics, 124(1), 95-99. [More Information]
  • 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. [More Information]
  • Sreedharan, J., Nicholson, G., Tripathi, V., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J., Williams, K., Buratti, E., Blair, I., et al (2008). TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science, 319(5870), 1668-1672. [More Information]
  • Latourelle, J., Sun, M., Lew, M., Suchowersky, O., Klein, C., Golbe, L., Mark, M., Growdon, J., Wooten, F., Watts, R., Nicholson, G., Corbett, A., et al (2008). The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Medicine, 6, 1-7. [More Information]
  • Gopinath, S., Kennerson, M., Durnall, J., Nicholson, G. (2007). A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36. Human Genetics, 121(5), 559-564. [More Information]
  • Calafell, F., Gaspar, C., Wong, V., Silveira, I., Nicholson, G., Brunt, E., Tranebjaerg, L., Stevanin, G., Hsieh, M., Brice, A., et al (2007). Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. JAMA Neurology, 64(10), 1502-1508. [More Information]
  • Burns, J., Ouvrier, R., Nicholson, G., Ryan, M. (2007). Establishment of the Australasian paediatric Charcot-Marie-Tooth disease registry. Neuromuscular Disorders, 17, 349-350. [More Information]
  • Ivanova, N., Claeys, K., Deconinck, T., Litvinenko, I., Jordanova, A., Auer-Grumbach, M., Haberlova, J., Lofgren, A., Smeyers, G., Nicholson, G., et al (2007). Hereditary spastic paraplegia 3A associated with axonal neuropathy. JAMA Neurology, 64(5), 706-713. [More Information]
  • Kennerson, M., Warburton, T., Nelis, E., Brewer, M., Polly, P., De Jonghe, P., Timmerman, V., Nicholson, G. (2007). Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clinical Chemistry (Washington, DC), 53(2), 349-352. [More Information]
  • Stendel, C., Roos, A., Deconinck, T., Pereira, J., Castagner, F., Niemann, A., Kirschner, J., Korinthenberg, R., Ketelsen, U., Nicholson, G., Ouvrier, R., et al (2007). Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. American Journal of Human Genetics, 81(1), 158-164. [More Information]
  • Li, J., Ghandour, K., Radovanovic, D., Shy, R., Krajewski, K., Shy, M., Nicholson, G. (2007). Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. JAMA Neurology, 64(7), 974-978. [More Information]
  • Ryan, M., Reddel, S., Nicholson, G., Ouvrier, R. (2006). Dominant congenital non progressive motor neuron disorder. Neuromuscular Disorders, 16(Supplement 1), S115-S115.
  • Nicholson, G. (2006). Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study. Neurology, 67(12), 2206-2210. [More Information]
  • Nicholson, G., Sun, M., Latourelle, J., Wooten, F., Lew, M., Klein, C., Shill, H., Golbe, L., Mark, M., Racette, B., et al (2006). Influence of heterozygosity for Parkin mutation on onset age in familial Parkinson disease The GenePD study. JAMA Neurology, 63(6), 826-832. [More Information]
  • Nicholson, G., Myers, S. (2006). Intermediate forms of Charcot-Marie-Tooth neuropathy: a review. NeuroMolecular Medicine, 8, 123-130. [More Information]
  • Refshauge, K., Raymond, J., Nicholson, G., van den Dolder, P. (2006). Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: A randomised, cross-over trial. Australian Journal of Physiotherapy, 52(3), 193-199. [More Information]
  • Huttner, I., Kennerson, M., Reddel, S., Radovanovic, D., Nicholson, G. (2006). Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. Neurology, 67(11), 2016-2021. [More Information]
  • Nicholson, G. (2006). The dominantly inherited motor and sensory neuropathies: clinical and molecular advances. Muscle and Nerve, 33(5), 589-597. [More Information]
  • Aggarwal, A., Nicholson, G. (2005). Age dependent penetrance of three different superoxide dismutase 1 (sod 1) mutations. International Journal of Neuroscience, 115(8), 1119-1130. [More Information]
  • Spring, P., Kok, C., Nicholson, G., Ing, A., Spies, J., Bassett, M., Cameron, J., Kerlin, P., Bowler, S., Tuck, R., Pollard, J. (2005). Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. Brain, 128(12), 2797-2810. [More Information]
  • Karamohamed, S., Latourelle, J., Racette, B., Perlmutter, J., Wooten, G., Lew, M., Klein, C., Shill, H., Golbe, L., Nicholson, G., et al (2005). BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study. Neurology, 65(11), 1823-1825. [More Information]
  • Zhu, D., Kennerson, M., Walizada, G., Züchner, S., Vance, J., Nicholson, G. (2005). Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Neurology, 65(3), 496-497. [More Information]
  • Lindahl, A., Lhatoo, S., Campbell, M., Nicholson, G., Love, S. (2005). Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: Autopsy findings. Clinical Neurology and Neurosurgery, 108, 780-3. [More Information]
  • Kochanski, A., Kennerson, M., Kawulak, M., Ryniewicz, B., Rowinska-Marcinska, K., Walizada, G., Nowakowski, A., Hausmanowa-Petrusewicz, I., Nicholson, G. (2005). Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci. Neurology, 64(3), 533-535. [More Information]
  • Züchner, S., Noureddine, M., Kennerson, M., Verhoeven, K., Claeys, K., De Jonghe, P., Oliveira, S., Merory, J., Speer, M., Stenger, J., Walizada, G., Zhu, D., Nicholson, G., et al (2005). Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nature Genetics, 37(3), 289-294. [More Information]
  • Sivakumar, K., Kyriakides, T., Puls, I., Nicholson, G., Funalot, B., Antonellis, A., Sambuughin, N., Christodoulou, K., Beggs, J., Zamba-Papanicolaou, E., et al (2005). Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain, 128(Pt 10), 2304-2314. [More Information]
  • Dedov, V., Dedova, I., Merrill, A., Nicholson, G. (2004). Activity Of Partially Inhibited Serine Palmitoyltransferase Is Sufficient For Normal Sphingolipid Metabolism And Viability Of Hsn1 Patient Cells. BBA - Bioenergetics, 1688 (2), 168-175. [More Information]
  • Chen, Y., Bennett, C., Huynh, H., Blair, I., Puls, I., Irobi, J., Dierick, I., Abel, A., Kennerson, M., Rabin, B., Nicholson, G., et al (2004). Dna/Rna Helicase Gene Mutations In A Form Of Juvenile Amyotrophic Lateral Sclerosis (Als4). American Journal of Human Genetics, 74(6), 1128-1135.
  • Dedov, V., Dedova, I., Nicholson, G. (2004). Equilibrium Between Cell Division And Apoptosis In Immortal Cells As An Alternative To The G1 Restriction Mechanism In Mammalian Cells. Cell Cycle, 3(4), 491-495.
  • Dedov, V., Dedova, I., Nicholson, G. (2004). Hypoxia Causes Aggregation Of Serine Palmitoyltransferase Followed By Non-Apoptotic Death Of Human Lymphocytes. Cell Cycle, 3(10), 1271-1277.
  • Kwok, J., Teber, E., Hallupp, M., Nicholson, G., Mellick, G., Buchanan, D., Silburn, P., Loy, C., Schofield, P. (2004). Tau Haplotypes Regulate Transcription And Are Associated With Parkinson'S Disease. Annals of Neurology, 55(3), 329-334. [More Information]
  • Kok, C., Kennerson, M., Myers, S., Nicholson, G. (2004). Transcript Map Of The Candidate Region For Hsni With Cough And Gastroesophageal Reflux On Chromosome 3P And Exclusion Of Candidate Genes. Neurogenetics, 5(3), 197-200. [More Information]
  • Kok, C., Kennerson, M., Spring, P., Ing, A., Pollard, J., Nicholson, G. (2003). A locus for Hereditary sensory neuropathy with cough and gastroesophageal reflux on Chromosome 3p22-p24. American Journal of Human Genetics, 73(3), 632-637.
  • Lorentzos, P., Kaiser, T., Kennerson, M., Nicholson, G. (2003). A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies: Using Multiplexed real-time PCR. Genetic Testing, 7(2), 135-138.
  • Auer-Grumbach, M., De Jonghe, P., Verhoeven, K., Timmerman, V., Wagner, K., Hartung, H., Nicholson, G. (2003). Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations. JAMA Neurology, 60(3), 329-334. [More Information]
  • Vucic, S., Kennerson, M., Zhu, D., Miedema, E., Kok, C., Nicholson, G. (2003). CMT with pyramidal features. Neurology, 60(4), 696-699.
  • Dedov, V., Dedova, I., Nicholson, G. (2003). Inhibition of topoisomerase II overrides the G2/M check points of the cell cycle in EBV-lymphocytes. Apoptosis, 8(4), 399-406.
  • Hunter, M., Bernard, R., Freitas, E., Boyer, A., Morar, B., Martins, I., Tournev, I., Jordanova, A., Guergelcheva, V., Ishpekova, B., Nicholson, G., et al (2003). Mutation screening of the N-myc downstream-regulated Gene 1 (NDRG1) in patients with Charcot-Marie-Tooth disease. Human Mutation, 22(2), 129-135. [More Information]
  • Wilmhurst, J., Pollard, J., Nicholson, G., Antony, J., Ouvrier, R. (2003). Peripheral neuropathies of infancy. Developmental Medicine and Child Neurology, 45(6), 408-414. [More Information]
  • Zhu, D., Kennerson, M., Merory, J., Chrast, R., Verheijen, M., Lemke, G., Nicholson, G. (2003). Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region. Neurogenetics, 4(4), 179-183.
  • Knight, M., Kennerson, M., Anney, R., Matsuura, T., Nicholson, G., Salimi-Tari, P., McKinlay Garnder, R., Storey, E., Forrest, S. (2003). Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxix mouse mutant. Neurobiology of Disease, 13(2), 147-157.
  • De Jonghe, P., Auer-Grumbach, M., Irobi, J., Wagner, K., Plecko, B., Kennerson, M., Zhu, D., De Vriendt, E., Van Gerwen, V., Nicholson, G., et al (2002). Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? Brain, 125(6), 1320-1325.
  • Aggarwal, A., Nicholson, G. (2002). Detection of preclinical motor neurone loss in SOD1 mutation carriers using motor unit number estimation. Journal of Neurology, Neurosurgery and Psychiatry, 73(2), 199-201.
  • Dawkins, J., Brahmbhatt, S., Auer-Grumbach, M., Wagner, K., Hartung, H., Verhoeven, K., Timmerman, V., De Jonghe, P., Kennerson, M., LeGuern, E., Nicholson, G. (2002). Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. Neuromuscular Disorders, 12(7-8), 656-658.
  • Zhu, D., Burke, C., Leslie, A., Nicholson, G. (2002). Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion. Movement Disorders, 17(3), 585-589. [More Information]
  • Nicholson, G., Ouvrier, R. (2002). GDAP1 mutations in CMT4: Axonal and demyelinating phenotypes?: The exception ?proves. Neurology, , 1835-1836.
  • Kennerson, M., Nicholson, G., Storey,, E., Gardner,, R., Knight,, M., Tuck, R., Forrest, S. (2001). A new autosomal dominant pure cerebellar ataxia. Neurology, 57, 1913-1915.
  • Nicholson, G., Spira, P., Sharpe, J., Halliday, G., Cavanagh, J. (2001). Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. Annals of Neurology, 49, 313-319.
  • Kennerson, M., Nicholson, G., Zhu, D., Gardner,, J., Storey,, E., Meroy, J., Robertson, S. (2001). Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. American Journal of Human Genetics, 69, 883-888.
  • Nicholson, G., Hulme, D., Dawkins,, J., Blair, I., Auer-Grumbach, M., Brahmbhatt, S. (2001). Hereditary sensory neuropathy type 1: haplotype analysis shows founders in Southern England and Europe. American Journal of Human Genetics, 69, 655-659.
  • Mitchell, D., Hulme, D., Brahmbhatt, S., Nicholson, G., Auer-Grumbach, M. (2001). Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type 1. Nature Genetics, 27(3), 309-312.
  • Kril, J., Nicholson, G., Brooks, W., Smith, M., Kwok, J., McLean, C., Broe, G., Cappai, R., Hallupp, M., Cotton, R., et al (2001). Variable phenotype of Alzheimer's disease with spastic paraparesis. Annals of Neurology, 49, 129-215.
  • Sander, S., Ouvrier, R., McLeod, J., Nicholson, G., Pollard, J. (2000). Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. Journal of Neurology, Neurosurgery and Psychiatry, 68, 483-488.

Conferences

  • Kochanski, A., Kennerson, M., Ploski, R., Ryniewicz, B., Kosinska, J., Kawulak, M., Rowinska-Marcinska, K., Walizada, G., Hausmanowa-Petrusewicz, I., Nicholson, G. (2012). Charcot-Marie-Tooth type 2 disease with autosomal dominant trait of inheritance not linked to other axonal CMT loci. XIth International Congress on Neuromuscular Diseases, United Kingdom: Elsevier.
  • Claeys, K., Zuchner, S., Kennerson, M., Verhoeven, K., Ceuterick, C., Martin, J., Berciano, J., Vance, J., Nicholson, G., Timmerman, V., et al (2006). Dynamin 2 mutations are associated with dominant intermediate Charcot-Marie-Tooth disease and dominant centronuclear myopathy. 11th International Congress of the World Muscle Society, United Kingdom: Elsevier.

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. [More Information]
  • 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), 1-9. [More Information]
  • 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. [More Information]

2013

  • Vester, A., Velez-Ruiz, G., McLaughlin, H., Lupski, J., Talbot, K., Vance, J., Zuchner, S., Roda, R., Fischbeck, K., Biesecker, L., Nicholson, G., et al (2013). A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Human Mutation, 34(1), 191-199. [More Information]
  • Kennerson, M., Yiu, E., Chuang, D., Kidambi, A., Tso, S., Ly, C., Chaudhry, R., Drew, A., Rance, G., Delatyckl, M., Nicholson, G., et al (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. [More Information]
  • Vucic, S., Nicholson, G., Chio, A., Kiernan, M. (2013). Apparent anticipation in SOD1 familial amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14(5), 452-456. [More Information]
  • Turner, M., Hardiman, O., Benatar, M., Brooks, B., Chio, A., de Carvalho, M., Ince, P., Lin, C., Miller, R., Mitsumoto, H., Nicholson, G., Vucic, S., et al (2013). Controversies and priorities in amyotrophic lateral sclerosis. Lancet Neurology, 12(3), 310-322. [More Information]
  • Klein, C., Bird, T., Ertekin-Taner, N., Lincolin, S., Hjroth, 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. [More Information]
  • Takahashi, Y., Fukuda, Y., Yoshimura, J., Toyoda, A., Kurppa, K., Moritoyo, H., Belzil, V., Dion, P., Higasa, K., Doi, K., Fifita, J., Williams, K., Blair, I., Nicholson, G., et al (2013). ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. American Journal of Human Genetics, 93(5), 900-905. [More Information]
  • Chesi, A., Staahl, B., Jovicic, A., Couthouis, J., Fasolino, M., Raphael, A., Yamazaki, T., Elias, L., Polak, M., Kelly, C., Williams, K., Nicholson, G., Blair, I., et al (2013). Exome sequencing to identify de novo mutations in sporadic ALS trios. Nature Neuroscience, 16(7), 851-856. [More Information]
  • Landoure, G., Zhu, P., Lourenco, C., Johnson, J., Toro, C., Bricceno, K., Rinaldi, C., Meilleur, K., Sangare, M., Diallo, O., Stoll, M., Nicholson, G., et al (2013). Hereditary spastic paraplegia Type 43 (SPG43) is caused by mutation in C19orf12. Human Mutation, 34(10), 1357-1360. [More Information]
  • 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. [More Information]
  • Mitsui, J., Matsukawa, T., Ishiura, H., Fukuda, Y., Ichikawa, Y., Date, H., Ahsan, B., Nakahara, Y., Momose, Y., Takahashi, Y., Nicholson, G., et al (2013). Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy. New England Journal of Medicine, 369(3), 233-244. [More Information]
  • 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. [More Information]
  • 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 and Nerve, 47(6), 922-924. [More Information]

2012

  • 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. [More Information]
  • Shahrizaila, N., Goh, K., Ahmad-Annuar, A., Chaudhry, R., Nicholson, G., Kennerson, M., Ly, C., Ryan, M. (2012). A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A. Muscle and Nerve, 46(3), 454-455. [More Information]
  • 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 and Frontotemporal Degeneration, 13(5), 465-470. [More Information]
  • McLaughlin, H., Sakaguchi, R., Giblin, W., Wilson, T., Biesecker, L., Lupski, J., Talbot, K., Vance, J., Zuchner, S., Lee, Y., Kennerson, M., Nicholson, G., et al (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. [More Information]
  • Kochanski, A., Kennerson, M., Ploski, R., Ryniewicz, B., Kosinska, J., Kawulak, M., Rowinska-Marcinska, K., Walizada, G., Hausmanowa-Petrusewicz, I., Nicholson, G. (2012). Charcot-Marie-Tooth type 2 disease with autosomal dominant trait of inheritance not linked to other axonal CMT loci. XIth International Congress on Neuromuscular Diseases, United Kingdom: Elsevier.
  • Couthouis, J., Hart, M., Erion, R., King, O., Diaz, Z., Nakaya, T., Ibrahim, F., Kim, H., Mojsilovic-Petrovic, J., Panossian, S., Williams, K., Nicholson, G., Blair, I., et al (2012). Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Human Molecular Genetics, 21(13), 2899-2911. [More Information]
  • 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: age-related phenomena, neurodegeneration and neuropathology, 33(1), 210.e9-210.e10. [More Information]
  • Williams, K., Solski, J., Nicholson, G., Blair, I. (2012). Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of Aging: age-related phenomena, neurodegeneration and neuropathology, 33(7), 1488.e15-1488.316. [More Information]
  • Martins, S., Soong, B., Wong, V., Giunti, P., Stevanin, G., Ranum, L., Sasaki, H., Riess, O., Tsuji, S., Coutinho, P., Nicholson, G., et al (2012). Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala. JAMA Neurology, 69(6), 746-751. [More Information]
  • Ishiura, H., Sako, W., Yoshida, M., Kawarai, T., Tanabe, O., Goto, J., Takahashi, Y., Date, H., Mitsui, J., Ahsan, B., Nicholson, G., et al (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. [More Information]
  • 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: age-related phenomena, neurodegeneration and neuropathology, 33(10), 2527.e3-2527.e10. [More Information]

2011

  • 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, 461-466. [More Information]
  • Couthouis, J., Hart, M., Shorter, J., DeJesus-Hernandez, M., Erion, R., Oristano, R., Liu, A., Ramos, D., Jethava, N., Hosangadi, D., Nicholson, G., Blair, I., et al (2011). A yeast functional screen predicts new candidate ALS disease genes. Proceedings of the National Academy of Sciences (PNAS) of the United States of America, 108(52), 20881-20890. [More Information]
  • Nicholson, G., Lenk, G., Reddel, S., Grant, A., Towne, C., Ferguson, C., Simpson, E., Scheuerle, A., Yasick, M., Hoffman, S., et al (2011). Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4. Brain: a journal of neurology, 134(7), 1959-1971. [More Information]
  • Riviere, J., Ramalingam, S., Lavastre, V., Shekarabi, M., Holbert, S., Lafontaine, J., Srour, M., Merner, N., Rochefort, D., Hince, P., Nicholson, G., et al (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. [More Information]
  • 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), 650-665. [More Information]
  • Klein, C., Botuyan, M., Wu, Y., Ward, C., Nicholson, G., Hammans, S., Hojo, K., Yamanishi, H., Karpf, A., Wallace, D., et al (2011). Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nature Genetics, 43(6), 595-600. [More Information]

2010

  • McLaughlin, H., Sakaguchi, R., Liu, C., Igarashi, T., Pehlivan, D., Chu, K., Iyer, R., Cruz, P., Cherukuri, P., Hansen, N., Nicholson, G., et al (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. [More Information]
  • 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, 17(7), 874-878. [More Information]
  • 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. [More Information]
  • Susman, R., Quijano-Roy, S., Yang, N., Webster, R., Clarke, N., Dowling, J., Kennerson, M., Nicholson, G., Biancalana, V., Ilkovski, B., Vucic, S., North, K., et al (2010). Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders, 20(4), 229-237. [More Information]
  • 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), 639-645. [More Information]
  • 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 and Cell Biology, 42(9), 1408-1411. [More Information]
  • Penno, A., Reilly, M., Houlden, H., Laura, M., Rentsch, K., Niederkofler, V., Stoeckli, E., Nicholson, G., Eichler, F., Brown, R., et al (2010). Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. Journal of Biological Chemistry, 285(15), 11178-11187. [More Information]
  • Kennerson, M., Nicholson, G., Kaler, S., Kowlaski, B., Mercer, J., Tang, J., Llanos, R., Chu, S., Takata, R., Speck-Martins, C., et al (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. [More Information]
  • 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 and Cell Biology, 42(10), 1606-1609. [More Information]
  • Brewer, M., Chaudhry, R., McDowall, K., Chu, S., Kowalski, B., Nicholson, G., Kennerson, M. (2010). X-linked CMT: genes and gene loci in an Australian cohort. Neurogenetics, 11(2), 267-9. [More Information]

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. [More Information]
  • 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. [More Information]
  • Ganesamoorthy, D., Bruno, D., Schoumans, J., Storey, E., Delatycki, M., Zhu, D., Wei, M., Nicholson, G., 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 (Washington, DC), 55(7), 1415-1418. [More Information]
  • 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 Carmen Espinos, Vicente Felipo, Francesc Palau (Eds.), Inherited Neuromuscular Diseases, (pp. 201-206). Dordrecht: Springer Science + Business Media. [More Information]
  • Vance, C., Rogelj, B., Hortobagyi, T., De Vos, K., Nishimura, A., Sreedharan, J., Hu, X., Smith, B., Ruddy, D., Wright, P., Blair, I., Nicholson, G., et al (2009). Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6. Science, 323(5918), 1208-1211. [More Information]
  • Claeys, K., Zuchner, S., Kennerson, M., Berciano, J., Garcia, A., Verhoeven, K., Storey, E., Merory, J., Bienfait, H., Lammens, M., Nicholson, G., et al (2009). Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain, 132(7), 1741-1752. [More Information]
  • 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. [More Information]

2008

  • van de Giessen, E., Fogh, I., Gopinath, S., Smith, B., Hu, X., Powell, J., Andersen, P., Nicholson, G., Ammar, A., Shaw, C. (2008). Association study on glutathione S-transferase omega 1 and 2 and familial ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 9(2), 81-84. [More Information]
  • 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, 18(7), 530-5. [More Information]
  • Blair, I., Vance, C., Durnall, J., 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. [More Information]
  • Vucic, S., Nicholson, G., Kiernan, M. (2008). Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis. Brain, 131(6), 1540-1550. [More Information]
  • 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, 191-195. [More Information]
  • Tobin, J., Latourelle, J., Lew, M., Klein, C., Suchowersky, O., Shill, H., Golbe, L., Mark, M., Growdon, J., Nicholson, G., Corbett, A., et al (2008). Haplotypes and gene expression implicate the MAPT region for Parkinson disease The GenePD Study. Neurology, 71(1), 28-34. [More Information]
  • 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), 1097-1102. [More Information]
  • McNicoll, C., Latourelle, J., MacDonald, M., Lew, M., Suchowersky, O., Klein, C., Golbe, L., Mark, M., Growdon, J., Wooten, G., Nicholson, G., Corbett, A., et al (2008). Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Movement Disorders, 23(11), 1596-1601. [More Information]
  • Luty, A., Kwok, J., Thompson, E., Blumbergs, P., Brooks, W., Loy, C., Dobson-Stone, C., Panegyres, P., Hecker, J., Nicholson, G., et al (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(32), 1-11. [More Information]
  • DeStefano, A., Latourelle, J., Lew, M., Suchowersky, O., Klein, C., Golbe, L., Mark, M., Growdon, J., Wooten, G., Watts, R., Nicholson, G., Corbett, A., et al (2008). Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Human Genetics, 124(1), 95-99. [More Information]
  • 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. [More Information]
  • Sreedharan, J., Nicholson, G., Tripathi, V., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J., Williams, K., Buratti, E., Blair, I., et al (2008). TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science, 319(5870), 1668-1672. [More Information]
  • Latourelle, J., Sun, M., Lew, M., Suchowersky, O., Klein, C., Golbe, L., Mark, M., Growdon, J., Wooten, F., Watts, R., Nicholson, G., Corbett, A., et al (2008). The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Medicine, 6, 1-7. [More Information]

2007

  • Gopinath, S., Kennerson, M., Durnall, J., Nicholson, G. (2007). A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36. Human Genetics, 121(5), 559-564. [More Information]
  • Calafell, F., Gaspar, C., Wong, V., Silveira, I., Nicholson, G., Brunt, E., Tranebjaerg, L., Stevanin, G., Hsieh, M., Brice, A., et al (2007). Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. JAMA Neurology, 64(10), 1502-1508. [More Information]
  • Burns, J., Ouvrier, R., Nicholson, G., Ryan, M. (2007). Establishment of the Australasian paediatric Charcot-Marie-Tooth disease registry. Neuromuscular Disorders, 17, 349-350. [More Information]
  • Ivanova, N., Claeys, K., Deconinck, T., Litvinenko, I., Jordanova, A., Auer-Grumbach, M., Haberlova, J., Lofgren, A., Smeyers, G., Nicholson, G., et al (2007). Hereditary spastic paraplegia 3A associated with axonal neuropathy. JAMA Neurology, 64(5), 706-713. [More Information]
  • Kennerson, M., Warburton, T., Nelis, E., Brewer, M., Polly, P., De Jonghe, P., Timmerman, V., Nicholson, G. (2007). Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clinical Chemistry (Washington, DC), 53(2), 349-352. [More Information]
  • Stendel, C., Roos, A., Deconinck, T., Pereira, J., Castagner, F., Niemann, A., Kirschner, J., Korinthenberg, R., Ketelsen, U., Nicholson, G., Ouvrier, R., et al (2007). Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. American Journal of Human Genetics, 81(1), 158-164. [More Information]
  • Li, J., Ghandour, K., Radovanovic, D., Shy, R., Krajewski, K., Shy, M., Nicholson, G. (2007). Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. JAMA Neurology, 64(7), 974-978. [More Information]

2006

  • Ryan, M., Reddel, S., Nicholson, G., Ouvrier, R. (2006). Dominant congenital non progressive motor neuron disorder. Neuromuscular Disorders, 16(Supplement 1), S115-S115.
  • Claeys, K., Zuchner, S., Kennerson, M., Verhoeven, K., Ceuterick, C., Martin, J., Berciano, J., Vance, J., Nicholson, G., Timmerman, V., et al (2006). Dynamin 2 mutations are associated with dominant intermediate Charcot-Marie-Tooth disease and dominant centronuclear myopathy. 11th International Congress of the World Muscle Society, United Kingdom: Elsevier.
  • Nicholson, G. (2006). Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study. Neurology, 67(12), 2206-2210. [More Information]
  • Nicholson, G., Sun, M., Latourelle, J., Wooten, F., Lew, M., Klein, C., Shill, H., Golbe, L., Mark, M., Racette, B., et al (2006). Influence of heterozygosity for Parkin mutation on onset age in familial Parkinson disease The GenePD study. JAMA Neurology, 63(6), 826-832. [More Information]
  • Nicholson, G., Myers, S. (2006). Intermediate forms of Charcot-Marie-Tooth neuropathy: a review. NeuroMolecular Medicine, 8, 123-130. [More Information]
  • Refshauge, K., Raymond, J., Nicholson, G., van den Dolder, P. (2006). Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: A randomised, cross-over trial. Australian Journal of Physiotherapy, 52(3), 193-199. [More Information]
  • Huttner, I., Kennerson, M., Reddel, S., Radovanovic, D., Nicholson, G. (2006). Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. Neurology, 67(11), 2016-2021. [More Information]
  • Nicholson, G. (2006). The dominantly inherited motor and sensory neuropathies: clinical and molecular advances. Muscle and Nerve, 33(5), 589-597. [More Information]

2005

  • Aggarwal, A., Nicholson, G. (2005). Age dependent penetrance of three different superoxide dismutase 1 (sod 1) mutations. International Journal of Neuroscience, 115(8), 1119-1130. [More Information]
  • Spring, P., Kok, C., Nicholson, G., Ing, A., Spies, J., Bassett, M., Cameron, J., Kerlin, P., Bowler, S., Tuck, R., Pollard, J. (2005). Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. Brain, 128(12), 2797-2810. [More Information]
  • Karamohamed, S., Latourelle, J., Racette, B., Perlmutter, J., Wooten, G., Lew, M., Klein, C., Shill, H., Golbe, L., Nicholson, G., et al (2005). BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study. Neurology, 65(11), 1823-1825. [More Information]
  • Zhu, D., Kennerson, M., Walizada, G., Züchner, S., Vance, J., Nicholson, G. (2005). Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Neurology, 65(3), 496-497. [More Information]
  • Lindahl, A., Lhatoo, S., Campbell, M., Nicholson, G., Love, S. (2005). Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: Autopsy findings. Clinical Neurology and Neurosurgery, 108, 780-3. [More Information]
  • Kochanski, A., Kennerson, M., Kawulak, M., Ryniewicz, B., Rowinska-Marcinska, K., Walizada, G., Nowakowski, A., Hausmanowa-Petrusewicz, I., Nicholson, G. (2005). Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci. Neurology, 64(3), 533-535. [More Information]
  • Züchner, S., Noureddine, M., Kennerson, M., Verhoeven, K., Claeys, K., De Jonghe, P., Oliveira, S., Merory, J., Speer, M., Stenger, J., Walizada, G., Zhu, D., Nicholson, G., et al (2005). Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nature Genetics, 37(3), 289-294. [More Information]
  • Sivakumar, K., Kyriakides, T., Puls, I., Nicholson, G., Funalot, B., Antonellis, A., Sambuughin, N., Christodoulou, K., Beggs, J., Zamba-Papanicolaou, E., et al (2005). Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain, 128(Pt 10), 2304-2314. [More Information]

2004

  • Dedov, V., Dedova, I., Merrill, A., Nicholson, G. (2004). Activity Of Partially Inhibited Serine Palmitoyltransferase Is Sufficient For Normal Sphingolipid Metabolism And Viability Of Hsn1 Patient Cells. BBA - Bioenergetics, 1688 (2), 168-175. [More Information]
  • Chen, Y., Bennett, C., Huynh, H., Blair, I., Puls, I., Irobi, J., Dierick, I., Abel, A., Kennerson, M., Rabin, B., Nicholson, G., et al (2004). Dna/Rna Helicase Gene Mutations In A Form Of Juvenile Amyotrophic Lateral Sclerosis (Als4). American Journal of Human Genetics, 74(6), 1128-1135.
  • Dedov, V., Dedova, I., Nicholson, G. (2004). Equilibrium Between Cell Division And Apoptosis In Immortal Cells As An Alternative To The G1 Restriction Mechanism In Mammalian Cells. Cell Cycle, 3(4), 491-495.
  • Dedov, V., Dedova, I., Nicholson, G. (2004). Hypoxia Causes Aggregation Of Serine Palmitoyltransferase Followed By Non-Apoptotic Death Of Human Lymphocytes. Cell Cycle, 3(10), 1271-1277.
  • Kwok, J., Teber, E., Hallupp, M., Nicholson, G., Mellick, G., Buchanan, D., Silburn, P., Loy, C., Schofield, P. (2004). Tau Haplotypes Regulate Transcription And Are Associated With Parkinson'S Disease. Annals of Neurology, 55(3), 329-334. [More Information]
  • Kok, C., Kennerson, M., Myers, S., Nicholson, G. (2004). Transcript Map Of The Candidate Region For Hsni With Cough And Gastroesophageal Reflux On Chromosome 3P And Exclusion Of Candidate Genes. Neurogenetics, 5(3), 197-200. [More Information]

2003

  • Kok, C., Kennerson, M., Spring, P., Ing, A., Pollard, J., Nicholson, G. (2003). A locus for Hereditary sensory neuropathy with cough and gastroesophageal reflux on Chromosome 3p22-p24. American Journal of Human Genetics, 73(3), 632-637.
  • Lorentzos, P., Kaiser, T., Kennerson, M., Nicholson, G. (2003). A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies: Using Multiplexed real-time PCR. Genetic Testing, 7(2), 135-138.
  • Auer-Grumbach, M., De Jonghe, P., Verhoeven, K., Timmerman, V., Wagner, K., Hartung, H., Nicholson, G. (2003). Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations. JAMA Neurology, 60(3), 329-334. [More Information]
  • Vucic, S., Kennerson, M., Zhu, D., Miedema, E., Kok, C., Nicholson, G. (2003). CMT with pyramidal features. Neurology, 60(4), 696-699.
  • Dedov, V., Dedova, I., Nicholson, G. (2003). Inhibition of topoisomerase II overrides the G2/M check points of the cell cycle in EBV-lymphocytes. Apoptosis, 8(4), 399-406.
  • Hunter, M., Bernard, R., Freitas, E., Boyer, A., Morar, B., Martins, I., Tournev, I., Jordanova, A., Guergelcheva, V., Ishpekova, B., Nicholson, G., et al (2003). Mutation screening of the N-myc downstream-regulated Gene 1 (NDRG1) in patients with Charcot-Marie-Tooth disease. Human Mutation, 22(2), 129-135. [More Information]
  • Wilmhurst, J., Pollard, J., Nicholson, G., Antony, J., Ouvrier, R. (2003). Peripheral neuropathies of infancy. Developmental Medicine and Child Neurology, 45(6), 408-414. [More Information]
  • Zhu, D., Kennerson, M., Merory, J., Chrast, R., Verheijen, M., Lemke, G., Nicholson, G. (2003). Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region. Neurogenetics, 4(4), 179-183.
  • Knight, M., Kennerson, M., Anney, R., Matsuura, T., Nicholson, G., Salimi-Tari, P., McKinlay Garnder, R., Storey, E., Forrest, S. (2003). Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxix mouse mutant. Neurobiology of Disease, 13(2), 147-157.

2002

  • De Jonghe, P., Auer-Grumbach, M., Irobi, J., Wagner, K., Plecko, B., Kennerson, M., Zhu, D., De Vriendt, E., Van Gerwen, V., Nicholson, G., et al (2002). Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? Brain, 125(6), 1320-1325.
  • Aggarwal, A., Nicholson, G. (2002). Detection of preclinical motor neurone loss in SOD1 mutation carriers using motor unit number estimation. Journal of Neurology, Neurosurgery and Psychiatry, 73(2), 199-201.
  • Dawkins, J., Brahmbhatt, S., Auer-Grumbach, M., Wagner, K., Hartung, H., Verhoeven, K., Timmerman, V., De Jonghe, P., Kennerson, M., LeGuern, E., Nicholson, G. (2002). Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. Neuromuscular Disorders, 12(7-8), 656-658.
  • Zhu, D., Burke, C., Leslie, A., Nicholson, G. (2002). Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion. Movement Disorders, 17(3), 585-589. [More Information]
  • Nicholson, G., Ouvrier, R. (2002). GDAP1 mutations in CMT4: Axonal and demyelinating phenotypes?: The exception ?proves. Neurology, , 1835-1836.

2001

  • Kennerson, M., Nicholson, G., Storey,, E., Gardner,, R., Knight,, M., Tuck, R., Forrest, S. (2001). A new autosomal dominant pure cerebellar ataxia. Neurology, 57, 1913-1915.
  • Nicholson, G., Spira, P., Sharpe, J., Halliday, G., Cavanagh, J. (2001). Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. Annals of Neurology, 49, 313-319.
  • Kennerson, M., Nicholson, G., Zhu, D., Gardner,, J., Storey,, E., Meroy, J., Robertson, S. (2001). Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. American Journal of Human Genetics, 69, 883-888.
  • Nicholson, G., Hulme, D., Dawkins,, J., Blair, I., Auer-Grumbach, M., Brahmbhatt, S. (2001). Hereditary sensory neuropathy type 1: haplotype analysis shows founders in Southern England and Europe. American Journal of Human Genetics, 69, 655-659.
  • Mitchell, D., Hulme, D., Brahmbhatt, S., Nicholson, G., Auer-Grumbach, M. (2001). Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type 1. Nature Genetics, 27(3), 309-312.
  • Kril, J., Nicholson, G., Brooks, W., Smith, M., Kwok, J., McLean, C., Broe, G., Cappai, R., Hallupp, M., Cotton, R., et al (2001). Variable phenotype of Alzheimer's disease with spastic paraparesis. Annals of Neurology, 49, 129-215.

2000

  • Sander, S., Ouvrier, R., McLeod, J., Nicholson, G., Pollard, J. (2000). Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. Journal of Neurology, Neurosurgery and Psychiatry, 68, 483-488.

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