Neurobiology Publications for 2008 and 2009
2009
Refereed Journal Articles
Kennerson, M.; Nicholson, G.; Kowalski, B.; Krajewski, K.; El-Khechen, D.; Feely, S.; Chu, S.; Shy, M.; Garbern, J. X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21 Neurology (2009) 72 3 246-52
Claeys, K. G.; Zuchner, S.; Kennerson, M.; Berciano, J.; Garcia, A.; Verhoeven, K.; Storey, E.; Merory, J. R.; Bienfait, H. M.; Lammens, M.; Nelis, E.; Baets, J.; De Vriendt, E.; Berneman, Z. N.; De Veuster, I.; Vance, J. M.; Nicholson, G.; Timmerman, V.; De Jonghe, P. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy Brain (2009) 132 Pt 7 1741-52
Vance, C.; Rogelj, B.; Hortobagyi, T.; De Vos, K. J.; Nishimura, A. L.; Sreedharan, J.; Hu, X.; Smith, B.; Ruddy, D.; Wright, P.; Ganesalingam, J.; Williams, K. L.; Tripathi, V.; Al-Saraj, S.; Al-Chalabi, A.; Leigh, P. N.; Blair, I. P.; Nicholson, G.; de Belleroche, J.; Gallo, J. M.; Miller, C. C.; Shaw, C. E. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 Science (2009) 323 5918 1208-11
Blair, I. P.; Williams, K. L.; Warraich, S. T.; Durnall, J. C.; Thoeng, A. D.; Manavis, J.; Blumbergs, P. C.; Vucic, S.; Kiernan, M. C.; Nicholson, G. A. FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis J Neurol Neurosurg Psychiatry (2009) -
Ganesamoorthy, D.; Bruno, D. L.; Schoumans, J.; Storey, E.; Delatycki, M. B.; Zhu, D.; Wei, M. K.; Nicholson, G. A.; McKinlay Gardner, R. J.; Slater, H. R. Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15 Clin Chem (2009) 55 7 1415-8
Baumer, D.; Lee, S.; Nicholson, G.; Davies, J. L.; Parkinson, N. J.; Murray, L. M.; Gillingwater, T. H.; Ansorge, O.; Davies, K. E.; Talbot, K. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy PLoS Genet (2009) 5 12 e1000773
Hornemann, T.; Penno, A.; Richard, S.; Nicholson, G.; van Dijk, F. S.; Rotthier, A.; Timmerman, V.; von Eckardstein, A. A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated Neurogenetics (2009) 10 2 135-43
Williams, K. L.; Durnall, J. C.; Thoeng, A. D.; Warraich, S. T.; Nicholson, G. A.; Blair, I. P. A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred J Neurol Neurosurg Psychiatry (2009) 80 11 1286-8
2008
Refereed Journal Articles
Nicholson GA, Magdelaine C, Zhu D, Grew S, Ryan MM, Sturtz F, Vallat JM, Ouvrier RA. (2008) Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology 70:1678-81.
van de Giessen E, Fogh I, Gopinath S, Smith B, Hu X, Powell J, Andersen P, Nicholson G, Al Chalabi A, Shaw CE. (2008). Association study on glutathione S-transferase omega 1 and 2 and familial ALS. Amyotroph Lateral Scler. 9:81-4
McAuley EZ, Blair IP, Liu Z, Fullerton JM, Scimone A, Van Herten M, Evans MR, Kirkby KC, Donald JA, Mitchell PB, Schofield PR. A genome screen of 35 bipolar affective disorder pedigrees provides significant evidence for a susceptibility locus on chromosome 15q. Molecular Psychiatry, 2008 Jan 29; [Epub ahead of print]
Blair IP, Vance C, Durnall JC, Williams KL, Thoeng A, Shaw CE, Nicholson GA. (2008). CHMP2B mutations are not a common cause of familial or sporadic ALS. Journal of Neurology, Neurosurgery, and Psychiatry, 79:849-50
Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson GA, Shaw CE. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science, 2008 319:1668-72
Brewer M, Changi F, Antonellis A, Fischbeck K, Polly P, Nicholson G and Kennerson M (2008) Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region. Neurogenetics (in press; accepted 29 February 2008)
Vallat JM, Ouvrier RA, Pollard JD, Magdelaine C, Zhu D, Nicholson GA, Grew S, Ryan MM, Funalot B. (2008) Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. J Neuropathol Exp Neurol. 67:1097-102
Luty AA, Kwok JB, Thompson EM, Blumbergs P, Brooks WS, Loy CT, Dobson-Stone C, Panegyres PK, Hecker J, Nicholson GA, Halliday GM, Schofield PR. (2008) Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.
BMC Neurol. 29;8:32.
Vucic S, Nicholson GA, Kiernan MC. (2008) Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis.
Brain. 131:1540-50.
Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Goldwurm S, Pezzoli G, Zini M, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Laramie JM, Destefano AL, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's Disease: the GenePD study. BMC Med. 2008 Nov 5;6(1):32. [Epub ahead of print]
McNicoll CF, Latourelle JC, MacDonald ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Saint-Hilaire MH, Massood T, Huskey KW, DeStefano AL, Gillis T, Mysore J, Goldwurm S, Pezzoli G, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord. 2008 23(11):1596-601.
DeStefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, Singer C, Goldwurm S, Pezzoli G, Saint-Hilaire MH, Hendricks AE, Gower A, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Hum Genet. 2008;124(1):95-9.
Reddel S, Ouvrier RA, Nicholson G, Dierick I, Irobi J, Timmerman V, Ryan MM. Autosomal dominant congenital spinal muscular atrophy--a possible developmental deficiency of motor neurones? Neuromuscul Disord. 2008;18:530-5. Review.
Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten GF, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S, Pezzoli G, Singer C, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Laramie JM, DeStefano AL, Litvan I, Nicholson G, Corbett A, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Sherman S, Al-hinti J, Drasby E, Nance M, Moller AT, Ostergaard K, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology. 2008;71:28-34.
