Výsledky vyhledávání - "Perry C. Gaskell"

A genome-wide linkage analysis of dementia in the Amish

Autor: Margaret A. Pericak-Vance, Jacob L. McCauley, Lynne L. McFarland, William K. Scott, Jeffery M. Vance, Amy E. Crunk, Daniel W. Hahs, Kathleen A. Welsh-Bohmer, Jonathan L. Haines, Susan H. Slifer, Stephanie Johnson, Charles E. Jackson, Perry C. Gaskell, Lan Jiang

Publikováno v: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :160-166

Susceptibility genes for Alzheimer's disease are proving to be highly challenging to detect and verify. Population heterogeneity may be a significant confounding factor contributing to this difficulty. To increase the power for disease susceptibility

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5539dac6167c2ccf7a7a6499b5d150ff
https://doi.org/10.1002/ajmg.b.30257

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Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation

Autor: Meredyth L. Pritchard, Felicia Lennon, B.L. Rosi, Perry C. Gaskell, Jeffery M. Vance, Jeffrey M. Stajich, Lauren Donald, Larry H. Yamaoka, Arnold Lee, Allen D. Roses, James M. Gilchrist, Margaret A. Pericak-Vance

Publikováno v: Neuromuscular Disorders. 7:S75-S81

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, autosomal dominant disorder characterized by progressive ptosis, dysphagia, and extremity weakness. Linkage of OPMD to 14q11.2-q13 has been reported in a series of French-Canadian families. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfb1113d88924ec9024f22c35786828c
https://doi.org/10.1016/s0960-8966(97)00087-4

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Confirmation of linkage of oculopharyngel muscular dystrophy to chromosome 14q 11.2-q13

Autor: Arnold Lee, Perry C. Gaskell, Margaret A. Pericak-Vance, Barbara Helms, Jeffrey M. Stajich, Jeffrey M. Vance, Larry H. Yamaoka, Lauren Donald, James M. Gilchrist, Allen D. Roses, Felicia Lennon

Publikováno v: Annals of Neurology. 40:801-804

Oculopharyngeal muscular dystrophy is a late-onset, autosomally dominant disorder characterized by progressive ptosis, dysphagia, and extremity weakness. Linkage of oculopharyngeal muscular dystrophy to 14q11.2-q13 has been reported in a series of Fr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d908e11b082ce924fb1596a519c53bea
https://doi.org/10.1002/ana.410400519

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Delayed onset of Alzheimer's disease with nonsteroidal anti-inflammatory and histamine H2 blocking drugs

Autor: Kathleen A. Welsh, Ann M. Saunders, Perry C. Gaskell, Margaret A. Pericak-Vance, Michael J. Helms, John C.S. Breitner, Barbara A. Gau, Allen D. Roses

Publikováno v: Neurobiology of Aging. 16:523-530

Factors that modify onset of Alzheimer's disease (AD) may be revealed by comparing environmental exposures in affected and unaffected members of discordant twin pairs or sibships. Among siblings at high risk of AD, sustained use of nonsteroidal anti-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2ad26a4620c2d6d75436766cf4158cb
https://doi.org/10.1016/0197-4580(95)00049-k

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Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432

Autor: Perry C. Gaskell, Jeffery M. Vance, Jeffrey M. Stajich, Margaret A. Pericak-Vance, Marcy C. Speer, Felicia L. Graham, Keva Collier, Erin Bonner

Publikováno v: neurogenetics. 4:83-85

As part of an on-going genomic screen of unlinked Charcot-Marie-Tooth disease type 2 (CMT2) families, we identified 11 regions in the genome with lod scoresor = 1.0. One of these regions was near the recently identified CMTDI1 locus on 19q. We show e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ed5197a9a560d5c503dd04f7672bd59
https://doi.org/10.1007/s10048-002-0139-3

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Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

Autor: Jeffery M. Vance, Allen D. Roses, Kamel Ben Othmane, Felicia Lennon, Perry C. Gaskell, Marvin P. Rozear, Margaret A. Pericak-Vance, Kenneth M. Wilkinson, J. Stajich, Lefkos T. Middleton, Lorraine J. Loprest

Publikováno v: Genomics. 17:370-375

Charcot-Marie-Tooth (CMT) disease type 2 (CMT2) is an inherited peripheral neuropathy characterized by variable age of onset and normal or slightly diminished nerve conduction velocity. CMT2 is pathologically and genetically distinct from CMT type 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ff5a5457c9d6cdce7e640b2a47827c
https://doi.org/10.1006/geno.1993.1334

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Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

Autor: Jeffery M. Vance, Gaofeng Wang, Perry C. Gaskell, Margaret A. Pericak-Vance, Khanh-Nhat Tran-Viet, Stephan Züchner, Martha Nance, Allison E. Ashley-Koch

Publikováno v: American journal of human genetics. 79(2)

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. For the novel SPG31 locus on chromosome 2p12, we identified six different mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44d7f7a10217330e84eed199541b321f
https://pubmed.ncbi.nlm.nih.gov/16826527

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