Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Monique Shelton"'
Autor:
Jessica W. Witherspoon, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Paul G. Wakim, Minal S. Jain, Carsten G. Bönnemann, Katherine G. Meilleur
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Background RYR1-related Myopathies (RYR1-RM) comprise a group of rare neuromuscular diseases (NMDs) occurring in approximately 1/90000 people in the US pediatric population. RYR1-RM result from pathogenic mutations in the ryanodine receptor
Externí odkaz:
https://doaj.org/article/35dd110ffd0f450fb05f58c70a6a3ac6
Autor:
Katherine G. Meilleur, Monique Shelton, Minal S. Jain, M. Waite, Carole Vuillerot, Irene C Chrismer, Jessica W Witherspoon, Ruhi Vasavada
Publikováno v:
Muscle & Nerve
Introduction The objective of this study was to obtain a 6‐month natural history of motor function performance in individuals with RYR1‐ related myopathy (RYR1‐RM) by using the Motor Function Measure‐32 (MFM‐32) and graded functional tests
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::256aa5ab552fa9a7b9dc1fba967f930b
https://pubmed.ncbi.nlm.nih.gov/31004442
https://pubmed.ncbi.nlm.nih.gov/31004442
Autor:
Irene C Chrismer, Anna Kuo, Katherine G. Meilleur, Mary M. Cosgrove, Monique Shelton, M. Waite, Minal S. Jain, Tokunbor A. Lawal, Xuemin Zhang, Carolyn Allen, Dinusha Rajapakse, Joshua J. Todd, Jessica W Witherspoon, Vatsala Sagar, Graeme Wistow, Ruhi Vasavada, Muslima S Razaqyar
Publikováno v:
Journal of Neurology
Variants in the skeletal muscle ryanodine receptor 1 gene (RYR1) result in a spectrum of RYR1-related disorders. Presentation during infancy is typical and ranges from delayed motor milestones and proximal muscle weakness to severe respiratory impair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e348fe4ef259eb55cf898420c50c3cb
https://pubmed.ncbi.nlm.nih.gov/30155738
https://pubmed.ncbi.nlm.nih.gov/30155738
Autor:
Monique Shelton, Carsten G. Bönnemann, Paul Wakim, Jessica W Witherspoon, M. Waite, Ruhi Vasavada, Katherine G. Meilleur, Irene C Chrismer, Minal Jain
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
RYR1-related Myopathies (RYR1-RM) comprise a group of rare neuromuscular diseases (NMDs) occurring in approximately 1/90000 people in the US pediatric population. RYR1-RM result from pathogenic mutations in the ryanodine receptor isoform-1 (RYR1) gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b8efb5c6c2d04de93623c5a48565568
https://pubmed.ncbi.nlm.nih.gov/29970108
https://pubmed.ncbi.nlm.nih.gov/29970108