Results 21 to 30 of about 78,813 (265)

MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy

Cell Reports, 2023
Summary: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common neuromuscular disorders and has no cure. Due to an unknown molecular mechanism, FSHD displays overlapping manifestations with the neurodegenerative disease amyotrophic ...
Valeria Runfola, Roberto Giambruno, Claudia Caronni, Maria Pannese, Annapaola Andolfo, Davide Gabellini   +5 more
doaj   +1 more source

Dose-Dependent Effects of FKRP Gene-Replacement Therapy on Functional Rescue and Longevity in Dystrophic Mice

Molecular Therapy: Methods & Clinical Development, 2018
Muscular dystrophy-dystroglycanopathies (MDDGs) resulting from fukutin-related protein (FKRP) gene mutations are rare disorders that result in a wide spectrum of clinical severity based on the age of onset, the degree of myogenic atrophy, and/or ...
Charles Harvey Vannoy, Victoria Leroy, Qi Long Lu   +2 more
doaj   +1 more source

Muscular dystrophies

The Lancet, 2019
Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac ...
Mercuri E., Bonnemann C. G., Muntoni F.
openaire   +4 more sources

The muscular dystrophies

BMJ, 1998
The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal ...
openaire   +4 more sources

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis

Health Expectations
Introduction Limb‐girdle muscular dystrophies (LGMDs) encompass a rare and genetically diverse set of disorders, posing challenges in diagnosis due to the absence of distinct pathological features, leading to frequent misdiagnoses and inadequate symptom ...
Homira Osman, Zainab Adamji, Gerald Pfeffer, Jodi Warman‐Chardon, Pryamvada Varma, Jenna Keindel, Stacey Lintern   +6 more
doaj   +1 more source

Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice

Nature Communications, 2018
Mutations in FKRP impair glycosylation of alpha-dystroglycan, leading to muscular dystrophy. Here, the authors show that oral administration of ribitol increases dystropglycan glycosylation and ameliorates symptoms of muscular dystrophy in FKRP-deficient
Marcela P. Cataldi, Peijuan Lu, Anthony Blaeser, Qi Long Lu   +3 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle

Journal of Translational Medicine, 2023
Introduction The promising potential of adeno-associated virus (AAV) gene delivery strategies to treat genetic disorders continues to grow with an additional three AAV-based therapies recently approved by the Food and Drug Administration and dozens of ...
Christina A. Pacak, Silveli Suzuki-Hatano, Fatemeh Khadir, Audrey L. Daugherty, Mughil Sriramvenugopal, Bennett J. Gosiker, Peter B. Kang, William Todd Cade   +7 more
doaj   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source