Results 51 to 60 of about 466,013 (152)

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

Muscle &Nerve, Volume 74, Issue S1, Page S52-S57, September 2026.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

Limb girdle muscular dystrophies: The clinicopathological viewpoint

Annals of Indian Academy of Neurology, 2007
Limb girdle muscular dystrophies (LGMD) are characterized by involvement of the pelvic and shoulder girdles, classically with an onset in the second or third decade and a slow progression as opposed to Duchenne muscular dystrophy. In fact, there are many
Urtizberea J, Leturcq France
doaj  

Efficient engraftment of pluripotent stem cell-derived myogenic progenitors in a novel immunodeficient mouse model of limb girdle muscular dystrophy 2I

Skeletal Muscle, 2020
Background Defects in α-dystroglycan (DG) glycosylation characterize a group of muscular dystrophies known as dystroglycanopathies. One of the key effectors in the α-DG glycosylation pathway is the glycosyltransferase fukutin-related protein (FKRP ...
Karim Azzag, Carolina Ortiz-Cordero, Nelio A. J. Oliveira, Alessandro Magli, Sridhar Selvaraj, Sudheer Tungtur, Weston Upchurch, Paul A. Iaizzo, Qi Long Lu, Rita C. R. Perlingeiro   +9 more
doaj   +1 more source

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

RNA Biology, 2022
Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some ...
Andrea C. Kakouri, Demetris Koutalianos, Andrie Koutsoulidou, Anastasis Oulas, Marios Tomazou, Nikoletta Nikolenko, Chris Turner, Andreas Roos, Anna Lusakowska, Katarzyna Janiszewska, George K. Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, Eleni Zamba Papanicolaou, Grainne Gorman, Hanns Lochmüller, George M. Spyrou, Leonidas A. Phylactou   +17 more
doaj   +1 more source

Muscle‐Specific Kinase Signaling and Its Therapeutic Potential

Muscle &Nerve, Volume 74, Issue S1, Page S65-S75, September 2026.
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen, Dana L. E. Vergoossen, Maartje G. Huijbers   +2 more
wiley   +1 more source

Dystrophic muscle distribution in late-stage muscular dystrophy

Autopsy and Case Reports, 2021
There is scant information about the comprehensive distribution of dystrophic muscles in muscular dystrophy. Despite different clinical presentations of muscular dystrophy, a recent multi-center study concluded that phenotypic distribution of dystrophic ...
Celeste Michelle Pilato, Melissa Sue Walker, Andrea M. Nguyen, McKay Elizabeth Hanna, Scott Lanxing Huang, Erika Morgan Lutins, M. Alex Meredith, Peter Jacob Haar, Mathula Thangarajh, Hope Theresa , Woon Nam Chow   +10 more
doaj  

Exploring the Content Validity of Patient‐Reported Outcome Measures to Capture the Patient Experience of Becker Muscular Dystrophy

Muscle &Nerve, Volume 74, Issue 3, Page 559-569, September 2026.
ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson, Katie Mellor, Nicole Kilburn, Ryan Fischer, Natalie Aldhouse, Chris Marshall, Tamara Al‐zubeidi   +6 more
wiley   +1 more source

Essential neuromuscular advice for pathologists: Limb Girdle Muscular Dystrophy (second of two parts)

Surgical and Experimental Pathology
Background Limb Girdle Muscular Dystrophy is defined as a group of progressive autosomal recessive (85%, 28 genes) and autosomal dominant (15%, 5 genes) muscular dystrophies described in at least two unrelated families, affecting individuals that achieve
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Julio Salgado Antunes, Francineide Sadala de Souza, Heveline Becker de Moura, Andreia Portilho de Brito Pinto, Jaquelin Valicek, Monica Machado Navarro, Frederico Godinho, Eni Braga da Silveira, Maria Isabel Lima, Bruno Arrivabene Cordeiro, Alexandre Faleiros Cauhi, Miriam Melo Menezes, Simone Vilela Nunes-Neves, Antonio Pedro Vargas, Rafael Xavier da-Silva-Neto, Renata Lobo Giron, Cynthia Costa-e-Silva, Reinaldo Issao Takata, Julia Filardi Paim   +21 more
doaj   +1 more source

Advances in imaging of brain abnormalities in neuromuscular disease

Therapeutic Advances in Neurological Disorders, 2019
Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases ...
Corrado Angelini, Elena Pinzan
doaj   +1 more source

Phenotypic and immunohistochemical characterization of sarcoglycanopathies

Clinics, 2011
INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of ...
Ana F. B. Ferreira, Mary S. Carvalho, Maria Bernadete D. Resende, Alda Wakamatsu, Umbertina Conti Reed, Suely Kazue Nagahashi Marie   +5 more
doaj   +1 more source