Results 101 to 110 of about 260,514 (183)

Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trialResearch in context

EClinicalMedicine
Summary: Background: RYR1-related myopathies (RYR1-RM) are caused by pathogenic variants in the RYR1 gene which encodes the type 1 ryanodine receptor (RyR1).
Joshua J. Todd, Tokunbor A. Lawal, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Minal S. Jain, Melissa R. Waite, Victoria Biancavilla, Shavonne Pocock, Kia Brooks, Christopher J. Mendoza, Gina Norato, Ken Cheung, Willa Riekhof, Pooja Varma, Claudia Colina-Prisco, Magalie Emile-Backer, Katherine G. Meilleur, Andrew R. Marks, Yael Webb, Eugene E. Marcantonio, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel   +23 more
doaj   +1 more source

An unusual way to improve lung function in congenital myopathies: the power of singing. [PDF]

Acta Myol, 2023
Valentino MR, Annunziata A, Atripaldi L, Fiorentino G.   +3 more
europepmc   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Unusual cause of muscle weakness, type II respiratory failure and pulmonary hypertension: a case report of ryanodine receptor type 1(RYR1)-related myopathy

BMC Pulmonary Medicine
Background Patients with congenital myopathies may experience respiratory involvement, resulting in restrictive ventilatory dysfunction and respiratory failure.
Yinong Chen, Shuai Zhang, Xin Lu, Wanmu Xie, Chen Wang, Zhenguo Zhai   +5 more
doaj   +1 more source

Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies. [PDF]

Continuum (Minneap Minn), 2022
Findlay AR, Weihl CC.
europepmc   +1 more source

Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies. [PDF]

J Gen Physiol, 2022
Rossi D, Catallo MR, Pierantozzi E, Sorrentino V.   +3 more
europepmc   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, Volume 110, Issue 5, Page 584-589, November 2026.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Imaging of Myopathies

, 2017
This article clarifies the current role of MR imaging in the assessment of myopathies. Typical MR imaging findings are discussed for different forms of myopathies, including idiopathic inflammatory myopathies, muscular dystrophies, and congenital ...
Gustav Andreisek, Andreisek, Gustav, Filli, Lukas, Sebastian Winklhofer, Del Grande, Filippo, Filippo Del Grande, Winklhofer, Sebastian, Lukas Filli   +7 more
core   +1 more source

Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies. [PDF]

Brain Commun, 2022
Bachmann C, Franchini M, Van den Bersselaar LR, Kruijt N, Voermans NC, Bouman K, Kamsteeg EJ, Knop KC, Ruggiero L, Santoro L, Nevo Y, Wilmshurst J, Vissing J, Sinnreich M, Zorzato D, Muntoni F, Jungbluth H, Zorzato F, Treves S.   +18 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source