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Page 1
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.
Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, Sørensen SA, Gydesen S, Fisher EM, Collinge J. Skibinski G, et al. Among authors: hummerich h. Nat Genet. 2005 Aug;37(8):806-8. doi: 10.1038/ng1609. Epub 2005 Jul 24. Nat Genet. 2005. PMID: 16041373
An integrated genetic, radiation hybrid, physical and transcription map of a region of distal mouse chromosome 12, including an imprinted locus and the 'Legs at odd angles' (Loa) mutation.
Witherden AS, Hafezparast M, Nicholson SJ, Ahmad-Annuar A, Bermingham N, Arac D, Rankin J, Iravani M, Ball S, Peters J, Martin JE, Huntley D, Hummerich H, Sergot M, Fisher EM. Witherden AS, et al. Among authors: hummerich h. Gene. 2002 Jan 23;283(1-2):71-82. doi: 10.1016/s0378-1119(01)00853-8. Gene. 2002. PMID: 11867214
Mutations in dynein link motor neuron degeneration to defects in retrograde transport.
Hafezparast M, Klocke R, Ruhrberg C, Marquardt A, Ahmad-Annuar A, Bowen S, Lalli G, Witherden AS, Hummerich H, Nicholson S, Morgan PJ, Oozageer R, Priestley JV, Averill S, King VR, Ball S, Peters J, Toda T, Yamamoto A, Hiraoka Y, Augustin M, Korthaus D, Wattler S, Wabnitz P, Dickneite C, Lampel S, Boehme F, Peraus G, Popp A, Rudelius M, Schlegel J, Fuchs H, Hrabe de Angelis M, Schiavo G, Shima DT, Russ AP, Stumm G, Martin JE, Fisher EM. Hafezparast M, et al. Among authors: hummerich h. Science. 2003 May 2;300(5620):808-12. doi: 10.1126/science.1083129. Science. 2003. PMID: 12730604
No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders.
Ahmad-Annuar A, Shah P, Hafezparast M, Hummerich H, Witherden AS, Morrison KE, Shaw PJ, Kirby J, Warner TT, Crosby A, Proukakis C, Wilkinson P, Orrell RW, Bradley L, Martin JE, Fisher EM. Ahmad-Annuar A, et al. Among authors: hummerich h. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):150-7. doi: 10.1080/14660820310011737. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003. PMID: 13129801
Paradigms for the identification of new genes in motor neuron degeneration.
Hafezparast M, Ahmad-Annuar A, Hummerich H, Shah P, Ford M, Baker C, Bowen S, Martin JE, Fisher EM. Hafezparast M, et al. Among authors: hummerich h. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Dec;4(4):249-57. doi: 10.1080/14660820310016084. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003. PMID: 14753659
Genetic analysis of the cytoplasmic dynein subunit families.
Pfister KK, Shah PR, Hummerich H, Russ A, Cotton J, Annuar AA, King SM, Fisher EM. Pfister KK, et al. Among authors: hummerich h. PLoS Genet. 2006 Jan;2(1):e1. doi: 10.1371/journal.pgen.0020001. PLoS Genet. 2006. PMID: 16440056 Free PMC article.
Genetic susceptibility, evolution and the kuru epidemic.
Mead S, Whitfield J, Poulter M, Shah P, Uphill J, Beck J, Campbell T, Al-Dujaily H, Hummerich H, Alpers MP, Collinge J. Mead S, et al. Among authors: hummerich h. Philos Trans R Soc Lond B Biol Sci. 2008 Nov 27;363(1510):3741-6. doi: 10.1098/rstb.2008.0087. Philos Trans R Soc Lond B Biol Sci. 2008. PMID: 18849290 Free PMC article.
Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.
Mead S, Poulter M, Uphill J, Beck J, Whitfield J, Webb TE, Campbell T, Adamson G, Deriziotis P, Tabrizi SJ, Hummerich H, Verzilli C, Alpers MP, Whittaker JC, Collinge J. Mead S, et al. Among authors: hummerich h. Lancet Neurol. 2009 Jan;8(1):57-66. doi: 10.1016/S1474-4422(08)70265-5. Lancet Neurol. 2009. PMID: 19081515 Free PMC article.
HECTD2 is associated with susceptibility to mouse and human prion disease.
Lloyd SE, Maytham EG, Pota H, Grizenkova J, Molou E, Uphill J, Hummerich H, Whitfield J, Alpers MP, Mead S, Collinge J. Lloyd SE, et al. Among authors: hummerich h. PLoS Genet. 2009 Feb;5(2):e1000383. doi: 10.1371/journal.pgen.1000383. Epub 2009 Feb 13. PLoS Genet. 2009. PMID: 19214206 Free PMC article.
56 results