Results 51 to 60 of about 275,647 (194)

The prevalence of hereditary neuromuscular disorders in Northern Norway

Brain and Behavior, 2021
Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller, Marijke Van Ghelue, Irene Lund, Christoffer Jonsrud, Kjell Arne Arntzen   +4 more
doaj   +1 more source

Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages [PDF]

, 2007
Mutations in laminin-alpha2 cause a severe congenital muscular dystrophy, called MDC1A. The two main receptors that interact with laminin-alpha2 are dystroglycan and alpha7beta1 integrin.
Ruegg, M. A., Patrizia Barzaghi, Lochmuller, H., Sarina Meinen, Markus A. Ruegg, Lin, S., Hanns Lochmüller, Shuo Lin, Barzaghi, P., Meinen, S.   +9 more
core   +1 more source

A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy‐Affected Skeletal Muscles

Stem Cells Translational Medicine, 2016
Facioscapulohumeral muscular dystrophy (FSHD) represents a major unmet clinical need arising from the progressive weakness and atrophy of skeletal muscles. The dearth of adequate experimental models has severely hampered our understanding of the disease.
Leslie Caron, Devaki Kher, Kian Leong Lee, Robert McKernan, Biljana Dumevska, Alejandro Hidalgo, Jia Li, Henry Yang, Heather Main, Giulia Ferri, Lisa M. Petek, Lorenz Poellinger, Daniel G. Miller, Davide Gabellini, Uli Schmidt   +14 more
doaj   +1 more source

Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies

Biomedicines, 2022
Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and atrophy that leads to progressive muscle disability and loss of ambulation.
Arlek González-Jamett, Walter Vásquez, Gabriela Cifuentes-Riveros, Rafaela Martínez-Pando, Juan C. Sáez, Ana M. Cárdenas   +5 more
doaj   +1 more source

Duchenne muscular dystrophy and brain function [PDF]

, 2012
Muscular dystrophies have historically been characterised according to clinical criteria, however in the genomic age the muscular dystrophies are now subdivided into groups according to the primary gene defect.
Morley, John W. (R12018), Anderson, Jennifer L., Head, Stewart I. (R14226)   +2 more
core   +2 more sources

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

Frontiers in Neurology, 2021
Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and predominantly affects facial and shoulder girdle muscles. Previous case reports and cohort studies identified minor cardiac abnormalities in FSHD
Allison Ducharme-Smith, Stefan Nicolau, C. Anwar A. Chahal, C. Anwar A. Chahal, C. Anwar A. Chahal, Kirstie Ducharme-Smith, Shujah Rehman, Keerthi Jaliparthy, Nadeem Khan, Christopher G. Scott, Erik K. St Louis, Teerin Liewluck, Virend K. Somers, Grace Lin, Peter A. Brady, Margherita Milone   +15 more
doaj   +1 more source

Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing

Journal of Translational Medicine, 2022
Background Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by asymmetric muscle wasting and weakness.
Y. Hiramuki, Yuriko Kure, Yoshihiko Saito, M. Ogawa, K. Ishikawa, M. Mori-Yoshimura, Y. Oya, Yuji Takahashi, Dae-Seong Kim, Noriko Arai, Chiaki Mori, T. Matsumura, T. Hamano, Kenichi Nakamura, K. Ikezoe, S. Hayashi, Y. Goto, S. Noguchi, I. Nishino   +18 more
semanticscholar   +1 more source

Cochlear Function in Facioscapulohumeral Muscular Dystrophy

Otology & Neurotology, 2007
Facioscapulohumeral muscular dystrophy (FSHD) is commonly associated with high-frequency hearing impairment. Our objective was to evaluate a group of normally hearing patients with FSHD using otoacoustic emissions.Prospective, randomized clinical trial.A tertiary University-based referral center in Athens, Greece.The study group consisted of a ...
Balatsouras, D.G., Korres, S., Manta, P., Panousopoulou, A., Vassilopoulos, D.   +4 more
openaire   +3 more sources

Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy

, 2020
Full author list omitted for brevity. For the full list of authors, see article.The emergence of CRISPR-Cas9 gene-editing technologies and genome-wide CRISPR-Cas9 libraries enables efficient unbiased genetic screening that can accelerate the process of ...
Kunkel, Louis M., King, Oliver D., Lek, Angela, DeSimone, Alec   +3 more
core   +1 more source

Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy

Muscle and Nerve, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy without approved therapies. In this study we evaluated whether locally acting ACE‐083 could safely increase muscle volume and improve functional outcomes in adults ...
J. Statland, C. Campbell, U. Desai, C. Karam, J. Díaz-Manera, Jeffrey T Guptill, L. Korngut, A. Genge, R. Tawil, L. Elman, N. Joyce, K. Wagner, G. Manousakis, A. Amato, R. Butterfield, P. Shieh, M. Wicklund, Josep Gamez, C. Bodkin, A. Pestronk, C. Weihl, J. Vilchez-Padilla, N. Johnson, K. Mathews, B. Miller, A. Leneus, Marcie Fowler, Marc van de Rijn, K. Attie   +28 more
semanticscholar   +1 more source