Výsledky vyhledávání - "Larry H. Yamaoka"

No association between the HLA-A2 allele and Alzheimer disease

Autor: Allen D. Roses, Jonathan L. Haines, Margaret A. Pericak-Vance, Ann M. Saunders, Scott Komo, Gary W. Small, Lindsay A. Farrer, Sanford Auerbach, William K. Scott, Larry H. Yamaoka

Publikováno v: neurogenetics. 2:177-182

The apolipoprotein E (APOE)-4 allele is a major risk factor for late-onset Alzheimer disease (AD), but it does not account for all the genetic variation in late-onset AD; thus, other genetic markers must be examined. Previous studies suggest an HLA-A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f46b59a8a754c7164be0d0a2da047e7e
https://doi.org/10.1007/s100480050080

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Use of a CEPH Meiotic Breakpoint Panel to Refine the Locus of Limb-Girdle Muscular Dystrophy Type 1A (LGMD1A) to a 2-Mb Interval on 5q31

Autor: Larry H. Yamaoka, Stephen K. Horrigan, Kristi D. Viles, Carol A. Westbrook, Jeffery Stajich, James M. Gilchrist, Lucia Bartoloni, Marcy C. Speer, Margaret A. Pericak-Vance, Jeffery M. Vance

Publikováno v: Genomics. 54:250-255

Limb-girdle muscular dystrophy type 1A (LGMD1A) is an autosomal dominant disease characterized by progressive weakness of the hip and shoulder girdle. The gene for LGMD1A had been localized to a 7-cM interval at 5q31 in a single large family (Family

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16699d1d14d836090ffee9ecb88250a6
https://doi.org/10.1006/geno.1998.5579

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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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No association or linkage between an intronic polymorphism of presenilin-1 and sporadic or late-onset familial Alzheimer disease

Autor: B.L. Rosi, William K. Scott, Margaret A. Pericak-Vance, P. C. Gaskell, Gary W. Small, Lindsay A. Farrer, Larry H. Yamaoka, P. A. Locke, Jonathan L. Haines, Ann M. Saunders, John H. Growdon, A. D. Roses, P. M. Conneally

Publikováno v: Genetic Epidemiology. 14:307-315

Recent reports have shown an association between an intronic polymorphism of the presenilin-1 (PSEN1) gene and late-onset (age at onset > 65) familial and sporadic (no family history) Alzheimer disease (AD). The reported association was independent o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8900d2f13968ce700a913e144deab38d
https://doi.org/10.1002/(sici)1098-2272(1997)14:3<307::aid-gepi8>3.0.co

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No Association between ?1-Antichymotrypsin and Familial Alzheimer's Diseases

Autor: Jonathan L. Haines, Ann M. Saunders, Lindsay A. Farrer, B.L. Rosi, P. Michael Conneally, Allen D. Roses, John H. Growdon, Peter C. Gaskell, Gary W. Small, Joellen M. Schildkraut, James F. Gusella, Meredyth L. Pritchard, Margaret A. Pericak-Vance, S. A. Auerbach, Patricia A. Locke, Larry H. Yamaoka

Publikováno v: Annals of the New York Academy of Sciences. 802:35-41

Alzheimer's disease (AD) is the most common mid to late age-of-onset neurodegenerative disorder. AD has a strong and complex genetic etiology, and multiple genes, acting independently and/or interacting, likely affect the risk of developing AD. Sever

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f06584ca2a83bc99c138ee16bd2ae9c4
https://doi.org/10.1111/j.1749-6632.1996.tb32596.x

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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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Genetic studies in Alzheimer's disease with an NACP/?-synuclein polymorphism

Autor: Robert Katzman, Mary Sundsmo, Larry H. Yamaoka, Ronald G. Thomas, H.A.Rohan de Silva, Margaret A. Pericak-Vance, J. B. Rimmler, Tsunao Saitoh, B.L. Rosi, Akihiko Iwai, Leon J. Thal, Xiaohua Chen, Ethan Gregory, Eliezer Masliah, Lawrence A. Hansen, C. Richard Hofstetter, Yu Xia, Richard DeTeresa, Allen D. Roses

Publikováno v: Annals of Neurology. 40:207-215

The non-Abeta component of Alzheimer's disease amyloid (NAC) is copurified with amyloid from the brain tissue of Alzheimer's disease victims and is immunohistochemically localized to amyloid fibrils. NAC is a hydrophobic peptide fragment from the NAC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff5b05338003ddafadb1bc90313f81d1
https://doi.org/10.1002/ana.410400212

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No Genetic Effect of α1-Antichymotrypsin in Alzheimer Disease

Autor: Lindsay A. Farrer, P. M. Conneally, Joellen M. Schildkraut, Gary W. Small, P. A. Locke, M.L. Pritchard, Larry H. Yamaoka, Jonathan L. Haines, S. A. Auerbach, Ann M. Saunders, James F. Gusella, P. C. Gaskell, B.L. Rosi, Margaret A. Pericak-Vance, A. D. Roses, John H. Growdon

Publikováno v: Genomics. 33:53-56

Alzheimer disease (AD) is the most common neurodegenerative disorder for individuals over the age of 40. AD has a complex etiology, and it is likely that multiple genes, acting independently and/or interacting, affect the risk of developing AD. Sever

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75e39b45afbe34230125968e837eda1e
https://doi.org/10.1006/geno.1996.0158

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Periodic Vestibulocerebellar Ataxia, an Autosomal Dominant Ataxia With Defective Smooth Pursuit, Is Genetically Distinct From Other Autosomal Dominant Ataxias

Autor: K. F. Damji, Larry H. Yamaoka, Karen E. Lewis, Stephen C. Pollock, R. Rand Allingham, Jeffery M. Vance, Margaret A. Pericak-Vance, Jeffrey M. Stajich, Kent W. Small

Publikováno v: Archives of Neurology. 53:338-344

Background: Periodic vestibulocerebellar ataxia is an autosomal dominant disorder characterized by defective smooth pursuit, gaze-evoked nystagmus, ataxia, and vertigo. The age of onset ranges from the third to the sixth decade. To date, all patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3db99a435cd95c6ac49709d03c0086a
https://doi.org/10.1001/archneur.1996.00550040074016

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