Zobrazeno 1 - 10 of 183 pro vyhledávání: '"David A Dyment"'
1
Akademický článek
The inheritance of resistance alleles in multiple sclerosis.
Autor: Sreeram V Ramagopalan, Andrew P Morris, David A Dyment, Blanca M Herrera, Gabriele C DeLuca, Matthew R Lincoln, Sarah M Orton, Michael J Chao, A Dessa Sadovnick, George C Ebers
Publikováno v: PLoS Genetics, Vol 3, Iss 9, Pp 1607-1613 (2007)
Multiple sclerosis (MS) is a complex trait in which alleles at or near the class II loci HLA-DRB1 and HLA-DQB1 contribute significantly to genetic risk. HLA-DRB1*15 and HLA-DRB1*17-bearing haplotypes and interactions at the HLA-DRB1 locus increase ri
Externí odkaz: https://doaj.org/article/ad8d63e5ccb14b6095f3b074af48426f
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2
Akademický článek
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
Autor: Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network, Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann
Publikováno v: Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (2024)
Abstract Objective ACTN2, encoding alpha‐actinin‐2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic
Externí odkaz: https://doaj.org/article/fb0a803a096f45d484f086ba7b3ad84b
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3
Akademický článek
Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB1*1501 is regulated by vitamin D.
Autor: Sreeram V Ramagopalan, Narelle J Maugeri, Lahiru Handunnetthi, Matthew R Lincoln, Sarah-Michelle Orton, David A Dyment, Gabriele C Deluca, Blanca M Herrera, Michael J Chao, A Dessa Sadovnick, George C Ebers, Julian C Knight
Publikováno v: PLoS Genetics, Vol 5, Iss 2, p e1000369 (2009)
Multiple sclerosis (MS) is a complex trait in which allelic variation in the MHC class II region exerts the single strongest effect on genetic risk. Epidemiological data in MS provide strong evidence that environmental factors act at a population lev
Externí odkaz: https://doaj.org/article/77bcebfcdb4646078140204a1f5791b8
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4
Akademický článek
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Autor: Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson
Publikováno v: Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 1941-1952 (2022)
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be norma
Externí odkaz: https://doaj.org/article/b9d420c58e684a458df010b18a7b69da
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