Výsledky vyhledávání

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

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

Association of apolipoprotein E allele 4 with late-onset familial and sporadic Alzheimer's disease

Autor: Margaret A. Pericak-Vance, B.L. Rosi, James F. Gusella, Warren J. Strittmatter, Donald E. Schmechel, D. R. Crapper-MacLachlan, Ann M. Saunders, A. D. Roses, Mark J. Alberts, Barbara J. Crain, S. H. Joo, Dmitry Goldgaber, Christine M. Hulette, P. St. George-Hyslop

Publikováno v: Neurology. 43:1467-1467

Apolipoprotein E, type epsilon 4 allele (APOE epsilon 4), is associated with late-onset familial Alzheimer's disease (AD). There is high avidity and specific binding of amyloid beta-peptide with the protein ApoE. To test the hypothesis that late-onse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10a66edd7008e7b106deb26ca8be78eb
https://doi.org/10.1212/wnl.43.8.1467

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Vyhledávací nástroje:

Upřesnit hledání