Showing papers by "Guy A. Rouleau published in 1991"
TL;DR: The localization of a gene causing familial amyotrophic lateral sclerosis provides a means of isolating this gene and studying its function, and insight gained from understanding the function of this gene may be applicable to the design of rational therapy for both the familial and sporadic forms of the disease.
Abstract: Background. Amyotrophic lateral sclerosis is a progressive neurologic disorder that commonly results in paralysis and death. Despite more than a century of research, no cause of, cure for, or means...
384 citations
TL;DR: A set of 17 somatic cell hybrids containing defined regions of human chromosome 22 is constructed using a Chinese hamster ovary cell line deficient in ADSL activity, which enables the rapid assignment of chromosome 22 single copy probes to small subregions.
47 citations
TL;DR: The most recent findings concerning the genetics of NF2 and related tumors are reviewed, and strategy to isolate and characterize the NF2 gene is presented.
Abstract: Meningioma and acoustic neuroma are among the most frequent primary tumors of the central nervous system. They usually arise as sporadic and solitary tumors. They also develop as multiple tumors in the autosomal dominant genetic disorder neurofibromatosis 2 (NF2). Molecular analysis of meningioma and acoustic neuroma revealed that loss of chromosome 22 alleles was the most frequent genetic alteration found in either sporadic or inherited cases. Subsequent studies showed that a marker in the middle of the long arm of chromosome 22 was linked to the disease in NF2 pedigrees. In this paper, the most recent findings concerning the genetics of NF2 and related tumors are reviewed, and strategy to isolate and characterize the NF2 gene is presented.
35 citations
TL;DR: This paper excludes genetic linkage between hypokalemic periodic paralysis (HOKPP) and this sodium channel gene, demonstrating that there is non-allelic genetic heterogeneity among different forms of periodic paralysis.
26 citations
TL;DR: The parental origin of the chromosome 22 lost in 19 cases of neuromas of patients with unaffected parents among which 11 were non-NF2 patients (sporadic and unique neuroma) and 8 were NF2 Patients (bilateral acoustic or multiple neuromas).
20 citations
Journal Article•
3 citations
01 Jan 1991
1 citations
1 citations