1 - 25 of 37 results for author:"Nicholson G.A." in Literature citations
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| DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Klein C.J., Bird T., Ertekin-Taner N., Lincoln S., Hjorth R., Wu Y., Kwok J., Mer G., Dyck P.J., Nicholson G.A. Neurology 80:824-828(2013) · Mapped (4) |
| The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. Ishiura H., Sako W., Yoshida M., Kawarai T., Tanabe O., Goto J., Takahashi Y., Date H., Mitsui J., Ahsan B. et al. Am. J. Hum. Genet. 91:320-329(2012) · UniProtKB (3) · Mapped (4) |
| UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Williams K.L., Warraich S.T., Yang S., Solski J.A., Fernando R., Rouleau G.A., Nicholson G.A., Blair I.P. Neurobiol. Aging 33:E3-E10(2012) · UniProtKB (1) · Mapped (2) |
| Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Couthouis J., Hart M.P., Erion R., King O.D., Diaz Z., Nakaya T., Ibrahim F., Kim H.J., Mojsilovic-Petrovic J., Panossian S. et al. Hum. Mol. Genet. 21:2899-2911(2012) · Mapped (5) |
| A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis. Solski J.A., Yang S., Nicholson G.A., Luquin N., Williams K.L., Fernando R., Pamphlett R., Blair I.P. Amyotroph Lateral Scler 13:465-470(2012) · Mapped (5) |
| A yeast functional screen predicts new candidate ALS disease genes. Couthouis J., Hart M.P., Shorter J., DeJesus-Hernandez M., Erion R., Oristano R., Liu A.X., Ramos D., Jethava N., Hosangadi D. et al. Proc. Natl. Acad. Sci. U.S.A. 108:20881-20890(2011) · Mapped (6) |
| KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Riviere J.B., Ramalingam S., Lavastre V., Shekarabi M., Holbert S., Lafontaine J., Srour M., Merner N., Rochefort D., Hince P. et al. Am. J. Hum. Genet. 89:219-230(2011) · UniProtKB (1) · Mapped (2) |
| Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Klein C.J., Botuyan M.V., Wu Y., Ward C.J., Nicholson G.A., Hammans S., Hojo K., Yamanishi H., Karpf A.R., Wallace D.C. et al. |
| Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Kennerson M.L., Nicholson G.A., Kaler S.G., Kowalski B., Mercer J.F.B., Tang J., Llanos R.M., Chu S., Takata R.I., Speck-Martins C.E. et al. Am. J. Hum. Genet. 86:343-352(2010) · UniProtKB (1) · Mapped (4) |
| A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred. Williams K.L., Durnall J.C., Thoeng A.D., Warraich S.T., Nicholson G.A., Blair I.P. J. Neurol. Neurosurg. Psychiatr. 80:1286-1288(2009) · Mapped (5) |
| Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. Vallat J.M., Ouvrier R.A., Pollard J.D., Magdelaine C., Zhu D., Nicholson G.A., Grew S., Ryan M.M., Funalot B. J. Neuropathol. Exp. Neurol. 67:1097-1102(2008) · Mapped (5) |
| Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. Luty A.A., Kwok J.B., Thompson E.M., Blumbergs P., Brooks W.S., Loy C.T., Dobson-Stone C., Panegyres P.K., Hecker J., Nicholson G.A. et al. BMC Neurol 8:32-32(2008) · Mapped (5) |
| Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis. Vucic S., Nicholson G.A., Kiernan M.C. Brain 131:1540-1550(2008) · Mapped (2) |
| Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Nicholson G.A., Magdelaine C., Zhu D., Grew S., Ryan M.M., Sturtz F., Vallat J.M., Ouvrier R.A. Neurology 70:1678-1681(2008) · Mapped (5) |
| CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis. Blair I.P., Vance C., Durnall J.C., Williams K.L., Thoeng A., Shaw C.E., Nicholson G.A. J. Neurol. Neurosurg. Psychiatr. 79:849-850(2008) · Mapped (2) |
| Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Kennerson M.L., Warburton T., Nelis E., Brewer M., Polly P., De Jonghe P., Timmerman V., Nicholson G.A. Clin. Chem. 53:349-352(2007) · Mapped (1) |
| Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Zhu D., Kennerson M.L., Walizada G., Zuchner S., Vance J.M., Nicholson G.A. Neurology 65:496-497(2005) · Mapped (5) |
| Hypoxia causes aggregation of serine palmitoyltransferase followed by non-apoptotic death of human lymphocytes. Dedov V.N., Dedova I.V., Nicholson G.A. Cell Cycle 3:1271-1277(2004) · Mapped (4) |
| DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Chen Y.-Z., Bennett C.L., Huynh H.M., Blair I.P., Puls I., Irobi J., Dierick I., Abel A., Kennerson M.L., Rabin B.A. et al. Am. J. Hum. Genet. 74:1128-1135(2004) · UniProtKB (1) · Mapped (1) |
| Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin. Xiao J., Neylon C.B., Nicholson G.A., Furness J.B. |
| AGT and RH blood group polymorphisms affect blood pressure and lipids in Afro-Caribbeans. Robinson M.T., Wilson T.W., Nicholson G.A., Grell G.A., Etienne C., Grim C.M., Wilson D., Grim C.E. J Hum Hypertens 18:351-363(2004) · Mapped (9) |
| Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Knight M.A., Kennerson M.L., Anney R.J., Matsuura T., Nicholson G.A., Salimi-Tari P., Gardner R.J., Storey E., Forrest S.M. Neurobiol. Dis. 13:147-157(2003) · Mapped (14) |
| Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. Dawkins J.L., Brahmbhatt S., Auer-Grumbach M., Wagner K., Hartung H.P., Verhoeven K., Timmerman V., De Jonghe P., Kennerson M., LeGuern E. et al. Neuromuscul. Disord. 12:656-658(2002) · Mapped (1) |
| Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Dawkins J.L., Hulme D.J., Brahmbhatt S.B., Auer-Grumbach M., Nicholson G.A. Nat. Genet. 27:309-312(2001) · UniProtKB (1) |
| Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis. Hulme D.J., Blair I.P., Dawkins J.L., Nicholson G.A. Hum. Genet. 106:594-596(2000) · UniProtKB (1) |