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]
• 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., 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]
• 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]
• 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]
• 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]

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]
• 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]
• 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]
• 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]
• 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]
• Vucic, S., Nicholson, G., Kiernan, M. (2008), Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis. Brain : a journal of neurology. 131(6), 1540-50. [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]

2007

• Martins, S., Calafell, F., Gaspar, C., Wong, V., Silveira, I., Nicholson, G., Brunt, E., Tranebjaerg, L., Stevanin, G., Hsieh, M., Soong, B., Loureiro, L., Dürr, A., Tsuji, S., Watanabe, M., Jardim, L., Giunti, P., Riess, O., Ranum, L., Brice, A., Rouleau, G., Coutinho, P., Amorim, A., Sequeiros, J. (2007), Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of neurology. 64(10), 1502-1508. [Abstract]
• Stendel, C., Roos, A., Deconinck, T., Pereira, J., Castagner, F., Niemann, A., Kirschner, J., Korinthenberg, R., Ketelsen, U., Battaloglu, E., Parman, Y., Nicholson, G., Ouvrier, R., Seeger, J., De Jonghe, P., Weis, J., Krüttgen, A., Rudnik-Schöneborn, S., Bergmann, C., Suter, U., Zerres, K., Timmerman, V., Relvas, J., Senderek, J. (2007), Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. American Journal of Human Genetics. 81(1), 158-64. [Abstract]
• Li, J., Ghandour, K., Radovanovic, D., 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. Archives of Neurology. 64(7), 974-978. [Abstract]
• Gopinath, S., Blair, I., 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. [Abstract]
• Ivanova, N., Claeys, K., Deconinck, T., Litvinenko, I., Jordanova, A., Auer-Grumbach, M., Haberlova, J., Löfgren, A., Smeyers, G., Nelis, E., Mercelis, R., Plecko, B., Priller, J., Zámecník, J., Ceulemans, B., Erichsen, A., Björck, E., Nicholson, G., Sereda, M., Seeman, P., Kremensky, I., Mitev, V., De Jonghe, P. (2007), Hereditary spastic paraplegia 3A associated with axonal neuropathy. Archives of Neurology. 64(5), 706-713. [Abstract]
• Burns, J., Ouvrier, R., Nicholson, G., Ryan, M. (2007), Establishment of the Australasian paediatric Charcot-Marie-Tooth disease registry. Neuromuscular Disorders. 17(4), 349-350. [Abstract]
• 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. 53(2), 349-352. [Abstract]