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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
TLDR
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. Expand
An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred
TLDR
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. Expand
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.
TLDR
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. Expand
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.
TLDR
The authors' collection of families with HSP is different on a genetic level from those previously described, with 8 novel mutations and 5 previously reported mutations in 15 affected individuals, and 2 recurring mutations in specific populations, which may facilitate the development of future spastin diagnostic testing in these populations. Expand
Familial amyotrophic lateral sclerosis
TLDR
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. Expand
Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.
TLDR
Different RPGR mutations lead to distinct RP phenotypes, with a highly variable inter- and intrafamilial phenotypic spectrum of disease that is associated with the type of mutation in RPGR and nonrandom X chromosome inactivation, respectively. Expand
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family
TLDR
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. Expand
A Novel ATP1A2 Gene Mutation in an Irish Familial Hemiplegic Migraine Kindred
TLDR
A large Irish Caucasian pedigree with familial hemiplegic migraine (FHM) is studied with the aim of finding the causative gene mutation. Expand
Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping.
TLDR
A genome-wide search using homozygosity mapping and DNA pooling found an AR CHED (HGMW-approved symbol CHED2) disease gene locus that is physically and genetically distinct from the AD CHED locus. Expand
Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct
TLDR
Conventional genetic analysis in addition to a pooled DNA strategy excludes linkage of AR CHED to the AD CHED and larger PPMD loci, demonstrating that AR ChED is genetically distinct from AD ChED and PPMd. Expand
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