Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Genila Bibat"'
Autor:
Doris G. Leung, Alex E. Bocchieri, Shivani Ahlawat, Michael A. Jacobs, Vishwa S. Parekh, Vladimir Braverman, Katherine Summerton, Jennifer Mansour, Genila Bibat, Carl Morris, Shannon Marraffino, Kathryn R. Wagner
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-12 (2020)
Abstract Background Pathogenic variants in the FKRP gene cause impaired glycosylation of α-dystroglycan in muscle, producing a limb-girdle muscular dystrophy with cardiomyopathy. Despite advances in understanding the pathophysiology of FKRP-associat
Externí odkaz:
https://doaj.org/article/de005e5b5e2a402886b8da63e665c4ac
Autor:
Mathula Thangarajh, Aaron J. Kaat, Genila Bibat, Jennifer Mansour, Katherine Summerton, Anthony Gioia, Carly Berger, Kristina K. Hardy, Kathryn R. Wagner
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1696-1706 (2019)
Abstract Objective We performed a prospective, cross‐sectional cognitive assessment in subjects with Duchenne Muscular Dystrophy (DMD) and their biological mothers. Methods Thirty subjects with out‐of‐frame mutations in the dystrophin (DMD) gen
Externí odkaz:
https://doaj.org/article/59905b583bb54600ac7fd367b5bea18f
Autor:
Genila Bibat, Michael A. Jacobs, Vladimir Braverman, Jennifer Mansour, Shannon Marraffino, Kathryn R. Wagner, Carl Morris, Doris G. Leung, Shivani Ahlawat, Alex E. Bocchieri, Katherine Summerton, Vishwa S. Parekh
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-12 (2020)
BMC Neurology
BMC Neurology
Background Pathogenic variants in the FKRP gene cause impaired glycosylation of α-dystroglycan in muscle, producing a limb-girdle muscular dystrophy with cardiomyopathy. Despite advances in understanding the pathophysiology of FKRP-associated myopat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ef068cfd0b9c258cfbb58d651276e0
https://doi.org/10.1186/s12883-020-01774-5
https://doi.org/10.1186/s12883-020-01774-5
Autor:
Elaine Tierney, Siddharth Gupta, Nga Brereton, Manisha Hong, Richard I. Kelley, Joshua B. Ewen, Michael V. Johnston, Abanti Sanyal, Lisa E. Kratz, Genila Bibat, Gayane Yenokyan, Rebecca Vaurio, Constance Smith-Hicks, Sakkubai Naidu
Publikováno v:
Neurology. 89:1684-1690
Objective:To determine safety and perform a preliminary assessment of dose-dependent efficacy of dextromethorphan in normalizing electrographic spikes, clinical seizures, and behavioral and cognitive functions in girls with Rett syndrome.Methods:We u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a0edeeeab6d88a831f5ecf5913f96c8
https://doi.org/10.1212/wnl.0000000000004515
https://doi.org/10.1212/wnl.0000000000004515
Autor:
Nikia Stinson, Kathryn R. Wagner, Genila Bibat, Hema Chagarlamudi, Alastair Corbett, Carla Grosmann, Marion Stoll, Jay R. Shapiro, Carly Matichak Stock
Publikováno v:
Muscle & Nerve. 56:1108-1113
Introduction: Herein we provide a comprehensive overview of bone health in facioscapulohumeral muscular dystrophy (FSHD). Methods: Ninety-four adult individuals with FSHD type 1 from 2 sites were included in this cross-sectional study. Clinical chara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5308bff2551c6ebd30c4f3eb2f427795
https://doi.org/10.1002/mus.25619
https://doi.org/10.1002/mus.25619
Autor:
Sakkubai Naidu, Siddharth Gupta, Joel I. Brenner, Genila Bibat, Gayane Yenokyan, Constance Smith-Hicks, Scott M. Myers, Jane E. Crosson, Abanti Sanyal, Aditi Kantipuly, Siddharth Srivastava
Publikováno v:
American Journal of Medical Genetics Part A. 173:1495-1501
Rett syndrome (RTT) is caused by MECP2 mutations, resulting in various neurological symptoms. Prolonged corrected QT interval (QTc) is also reported and is a speculated cause of sudden death in RTT. The purpose of this study was to correlate QTc in R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad0bb4d8151efe4b72e4b6d25b2ec541
https://doi.org/10.1002/ajmg.a.38191
https://doi.org/10.1002/ajmg.a.38191
Autor:
Hema, Chagarlamudi, Alastair, Corbett, Marion, Stoll, Genila, Bibat, Carla, Grosmann, Carly, Matichak Stock, Nikia, Stinson, Jay, Shapiro, Kathryn R, Wagner
Publikováno v:
Musclenerve. 56(6)
Herein we provide a comprehensive overview of bone health in facioscapulohumeral muscular dystrophy (FSHD).Ninety-four adult individuals with FSHD type 1 from 2 sites were included in this cross-sectional study. Clinical characteristics and determina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c3fd231456c1d64026b8cb8641c61cef
https://pubmed.ncbi.nlm.nih.gov/28214289
https://pubmed.ncbi.nlm.nih.gov/28214289
Autor:
Bing He, Kathryn R. Wagner, Daniel P. Judge, Karl H. Schuleri, W. Reid Thompson, Genila Bibat, Daniel A. Herzka, Gihan Tennekoon, Richard E. Thompson, Albert C. Lardo, Doris G. Leung, David A. Kass, Stuart D. Russell
Publikováno v:
Annals of Neurology. 76:541-549
Objective Duchenne and Becker muscular dystrophies (DBMD) are allelic disorders caused by mutations in dystrophin. Adults with DBMD develop life-threatening cardiomyopathy. Inhibition of phosphodiesterase 5 (PDE5) improves cardiac function in mouse m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c1e2589c1efca8395e666beae76647e
https://doi.org/10.1002/ana.24214
https://doi.org/10.1002/ana.24214
Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers
Autor:
Fedik Rahimov, Doris G. Leung, Genila Bibat, Oliver D. King, Louis M. Kunkel, Kathryn R. Wagner, Charles P. Emerson
Publikováno v:
Proceedings of the National Academy of Sciences. 109:16234-16239
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder caused by contractions of repetitive elements within the macrosatellite D4Z4 on chromosome 4q35. The pathophysiology of FSHD is unknown and, as a result, there is c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f21e50efd5d8fd5aea725592d8dfb73
https://doi.org/10.1073/pnas.1209508109
https://doi.org/10.1073/pnas.1209508109