Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Alison, Ballard"'
Autor:
Angela J, Lee, Karra A, Jones, Russell J, Butterfield, Mary O, Cox, Chamindra G, Konersman, Carla, Grosmann, Jose E, Abdenur, Monica, Boyer, Brent, Beson, Ching, Wang, James J, Dowling, Melissa A, Gibbons, Alison, Ballard, Joanne S, Janas, Robert T, Leshner, Sandra, Donkervoort, Carsten G, Bönnemann, Denise M, Malicki, Robert B, Weiss, Steven A, Moore, Katherine D, Mathews
Publikováno v:
Neurology: Genetics
Objective To characterize the clinical phenotype, genetic origin, and muscle pathology of patients with the FKRP c.1387A>G mutation. Methods Standardized clinical data were collected for all patients known to the authors with c.1387A>G mutations in F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f02e7767eb1112e84216fc04579a1132
https://pubmed.ncbi.nlm.nih.gov/31041397
https://pubmed.ncbi.nlm.nih.gov/31041397
Autor:
Carla Grosmann, Carsten G. Bönnemann, Mary O. Cox, Karra A. Jones, Joanne S. Janas, Melissa Gibbons, Robert T. Leshner, Ching Wang, James J. Dowling, Chamindra G. Konersman, Sandra Donkervoort, Monica Boyer, Alison Ballard, Brent Beson, Jose E. Abdenur, Russell J. Butterfield, Denise M. Malicki, Katherine D. Mathews, Robert B. Weiss, Angela J. Lee, Steven A. Moore
Publikováno v:
Neurology Genetics. 5:e315
ObjectiveTo characterize the clinical phenotype, genetic origin, and muscle pathology of patients with the FKRP c.1387A>G mutation.MethodsStandardized clinical data were collected for all patients known to the authors with c.1387A>G mutations in FKRP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91d205e9e54e6636fba276908abbfcc2
https://doi.org/10.1212/nxg.0000000000000315
https://doi.org/10.1212/nxg.0000000000000315