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Collette K. Hand
Researcher at University College Cork
Publications - 24
Citations - 1692
Collette K. Hand is an academic researcher from University College Cork. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Locus (genetics). The author has an hindex of 14, co-authored 23 publications receiving 1607 citations. Previous affiliations of Collette K. Hand include St. Vincent's Health System & McGill University.
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Journal ArticleDOI
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Shinji Hadano,Collette K. Hand,Hitoshi Osuga,Yoshiko Yanagisawa,Asako Otomo,Rebecca S. Devon,Natsuki Miyamoto,Junko Showguchi-Miyata,Yoshinori Okada,Roshni R. Singaraja,Denise A. Figlewicz,Thomas J. Kwiatkowski,Betsy A. Hosler,Tally Lerman Sagie,Jennifer Skaug,Jamal Nasir,Jamal Nasir,Robert H. Brown,Stephen W. Scherer,Guy A. Rouleau,Michael R. Hayden,Joh-E Ikeda,Joh-E Ikeda +22 more
TL;DR: Two independent deletion mutations linked to ALS2 are identified in the coding exons of the new gene ALS2, providing strong evidence that ALS2 is the causative gene underlying this form of ALS.
Journal ArticleDOI
Familial amyotrophic lateral sclerosis.
Collette K. Hand,Guy A. Rouleau +1 more
TL;DR: There has become evident that there is considerable interplay between these mechanisms and, as the role of each is established, a common picture may emerge, enabling the development of more targeted therapies.
Journal ArticleDOI
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.
Collette K. Hand,Jawad Khoris,François Salachas,François Gros-Louis,Ana Amélia Simões Lopes,Veronique Mayeux-Portas,Robert H. Brown,Vincent Meininger,William Camu,Guy A. Rouleau +9 more
TL;DR: Haplotype analysis has identified a 7.5-cM, 8-Mb region of chromosome 18q21, flanked by markers D 18S846 and D18S1109, as a novel FALS locus, a novel locus identified by performing a genome scan and linkage analysis.
Journal ArticleDOI
An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred.
François Gros-Louis,Inge A. Meijer,Collette K. Hand,Marie-Pierre Dubé,Daune MacGregor,Marie-Helene Seni,Rebecca S. Devon,Michael R. Hayden,Frederick Andermann,Eva Andermann,Eva Andermann,Guy A. Rouleau +11 more
TL;DR: The results show that absence of a functional VPS9 domain of alsin is sufficient to cause neurodegeneration, and the yeast V PS9 protein and its mammalian homolog RABEX-5 are guanine nucleotide exchange factors for specific proteins thought to be involved in vacuolar endocytic transport.
Journal ArticleDOI
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family
Collette K. Hand,Veronique Mayeux-Portas,Jawad Khoris,Valerie Briolotti,Pierre Clavelou,William Camu,Guy A. Rouleau +6 more
TL;DR: A French amyotrophic lateral sclerosis family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene is described and it is proposed that in this family both mutations are required for the development of disease.