Zobrazeno 1 - 8
of 8
pro vyhledávání: '"P. Craig Gaskell"'
Autor:
Kristin K. Nicodemus, Martha Nance, William K. Scott, Jonathan L. Haines, Bradley C. Hiner, Rajesh Pahwa, Frank L. Mastaglia, Jeffrey M. Stajich, Christopher G. Goetz, Donald E. Schmechel, Gary W. Small, Yi-Ju Li, Margaret A. Pericak-Vance, Allen D. Roses, Ann M. Saunders, P. Michael Conneally, Allison D. Reed, Lefkos T. Middleton, John R. Gilbert, Burton L. Scott, Dale J. Hedges, Jean P. Hubble, William C. Koller, Rachel A. Gibson, P. Craig Gaskell, Fred H. Allen, Matthew B. Stern, Joseph Jankovic, Kathleen A. Welsh-Bohmer, Jeffery M. Vance, Fengyu Zhang, Ray L. Watts
Publikováno v:
The American Journal of Human Genetics. 70(4):985-993
To identify genes influencing age at onset (AAO) in two common neurodegenerative diseases, a genomic screen was performed for AAO in families with Alzheimer disease (AD; n=449) and Parkinson disease (PD; n=174). Heritabilities between 40%--60% were f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f16f8ef3fe8f25ea8b2dd244ef073554
Autor:
P. Craig Gaskell, W. J.Ken Cumming, Ingrid K. Svenson, Margaret A. Pericak-Vance, Travis J. Riney, Martha Nance, Edward L. Hogan, Rose-Mary Boustany, Douglas A. Marchuk, Helen Kingston, Allison E. Ashley-Koch, Jeffery M. Vance
Publikováno v:
The American Journal of Human Genetics. 68:1077-1085
Pure hereditary spastic paraplegia (SPG) type 4 is the most common form of autosomal dominant hereditary SPG, a neurodegenerative disease characterized primarily by hyperreflexia and progressive spasticity of the lower limbs. It is caused by mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1422b392cf1c94e67cec72e256d910e
https://doi.org/10.1086/320111
https://doi.org/10.1086/320111
Autor:
Kristi D. Viles, Luria Bartoloni, James M. Gilchrist, Udana Torian, Michael A. Hauser, Richard W. Tim, Anu Taivainen, Stephen K. Horrigan, Carol A. Westbrook, Marcy C. Speer, P. Craig Gaskell, Margaret A. Pericak-Vance, Ria Dancel, Jeffrey M. Stajich, Paula Salmikangas, Jeffrey M. Vance, John R. Gilbert, Olli Carpén
Publikováno v:
Human Molecular Genetics. 9:2141-2147
We have identified a mutation in the myotilin gene in a large North American family of German descent expressing an autosomal dominant form of limb girdle muscular dystrophy (LGMD1A). We have previously mapped this gene to 5q31. Symptoms of this adul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::027ac52f41f0a3658f138c2a073ab65a
https://doi.org/10.1093/hmg/9.14.2141
https://doi.org/10.1093/hmg/9.14.2141
Autor:
James Y. Garbern, Douglas A. Marchuk, Margaret A. Pericak-Vance, Ingrid K. Svenson, P. Craig Gaskell, Martha Nance, Shin-ichi Hisanaga, Allison E. Ashley-Koch, Mark T. Kloos
Publikováno v:
Neurogenetics. 5(3)
Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease characterized by wide variability in phenotypic expression, both within and among families. The most-common cause of autosomal dominant HSP is mutation of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4551dd62f179ae37d5d0d499d67a1699
https://pubmed.ncbi.nlm.nih.gov/15248095
https://pubmed.ncbi.nlm.nih.gov/15248095
Autor:
Jeffery M. Vance, William K. Scott, Allison E. Ashley-Koch, Margaret A. Pericak-Vance, Ingrid K. Svenson, Sandra G. West, Chantelle M. Wolpert, Douglas A. Marchuk, Martha Nance, Erin Bonner, Richard W. Tim, Rodney Jones, Rose-Mary Boustany, Carolyn Farrell, P. Craig Gaskell
Publikováno v:
Neurogenetics. 3(2)
We evaluated seven families segregating pure, autosomal dominant familial spastic paraplegia (SPG) for linkage to four recently identified SPG loci on chromosomes 2q (1), 8q (2), 12q (3), and 19q (4). These families were previously shown to be unlink
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e883d4f2ed23cb1d6baf62ed1ef73e93
https://pubmed.ncbi.nlm.nih.gov/11354831
https://pubmed.ncbi.nlm.nih.gov/11354831
Autor:
P. Michael Conneally, Meredyth P. Bass, P. Craig Gaskell, William K. Scott, Allen D. Roses, Jonathan L. Haines, Ann M. Saunders, Lindsay A. Farrer, S. A. Auerbach, Larry H. Yamaoka, Margaret A. Pericak-Vance, Gary W. Small
Publikováno v:
Neurogenetics. 1(3)
The low-density lipoprotein receptor-related protein gene (LRP1) is often mentioned as a candidate gene for Alzheimer disease (AD) because of its role as a receptor for apolipoprotein E (apoE), a major genetic risk factor for late-onset familial and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a8e2e83df0b144c1034cc0b25639b53
https://pubmed.ncbi.nlm.nih.gov/10737120
https://pubmed.ncbi.nlm.nih.gov/10737120
Autor:
Allen D. Roses, Jonathan L. Haines, William K. Scott, Meredyth P. Bass, Ann M. Saunders, P. Craig Gaskell, Larry H. Yamaoka, Kathleen A. Welsh-Bohmer, Margaret A. Pericak-Vance
Publikováno v:
Neuroscience letters. 250(2)
The α 1 -antichymotrypsin (AACT)-155 allele was found elsewhere to have a significant effect on Alzheimer disease (AD) risk in individuals with at least one APOE-4 allele. We compared AACT genotypes of 284 cases of sporadic AD and 172 controls. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bec07aede145c00e1c3d8ec4f7e926c0
https://pubmed.ncbi.nlm.nih.gov/9697923
https://pubmed.ncbi.nlm.nih.gov/9697923
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