Results 71 to 80 of about 16,504 (255)

Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain [PDF]

, 2016
BACKGROUND: Myoclonus-dystonia is a neurogenic movement disorder caused by mutations in the gene encoding ɛ-sarcoglycan. By contrast, mutations in the α-, β-, γ-, and δ-sarcoglycan genes cause limb girdle muscular dystrophies.
Albanese, Allikian, Anderson, Asmus, Bartoli, Bianchini, Blake, Bolduc, Boulay, Breakefield, Cai, Chan, Charlesworth, Chen, Domingo, Draviam, Duclos, Duggan, Esapa, Ettinger, Fanin, Gastaldello, Groh, Grunewald, Han, Helliwell, Heydemann, Hicks, Hjermind, Holt, Imamura, Klinge, Lancioni, Li, Liu, Locke, McNally, Mencacci, Muller, Nguyen, Nigro, Nigro, Nishiyama, Noguchi, Peall, Peall, Peall, Piras, Ritz, Sandona, Saunders-Pullman, Shi, Shiga, Soheili, Straub, Straub, Trinkle-Mulcahy, Vainzof, Waite, Waite, Waite, Wheeler, Yokoi, Zimprich   +63 more
core   +1 more source

Antisense oligonucleotides targeting valosin‐containing protein ameliorate muscle pathology and molecular defects in cell and mouse models of multisystem proteinopathy

Clinical and Translational Medicine, Volume 15, Issue 12, December 2025.
Multisystem proteinopathy 1 (MSP1), caused by gain‐of‐function VCP variants, leads to multisystem degeneration. Using VCP patient‐derived hiPSCs, skeletal muscle progenitor cells were generated to evaluate antisense oligonucleotide (ASO) therapy.
Pallabi Pal, Michele Carrer, Lan Weiss, Olga G. Jaime, Cheng Cheng, Alyaa Shmara, Victoria Boock, Danae Bosch, Marwan Youssef, Yasamin Fazeli, Megan Afetian, Tamar R. Grossman, Michael R. Hicks, Paymaan Jafar‐nejad, Virginia Kimonis   +14 more
wiley   +1 more source

Case report: A single novel calpain 3 gene variant associated with mild myopathy

Frontiers in Genetics
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described.
Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, Marina Grandis, Marina Grandis   +20 more
doaj   +1 more source

Spatially Resolved Profiling of Compartmentalized Muscle and Brain Inflammation

European Journal of Immunology, Volume 55, Issue 12, December 2025.
This review summarizes emerging spatially resolved multi‐omics approaches revealing organized cell–cell interactions in skeletal muscle and brain inflammation. These tools uncover radiating molecular programs and niche‐specific immunopathology that shape cellular reactivity and vulnerability.
Thorge Dobbertin, Lucas Schirmer
wiley   +1 more source

Physiology of respiratory disturbances in muscular dystrophies [PDF]

, 2016
Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea, Lo Mauro, Maria Antonella   +1 more
core   +2 more sources

The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis. [PDF]

, 2020
Background: The cytokine growth differentiation factor-15 (GDF-15) has been associated with inflammatory and mitochondrial disease, warranting exploration of its expression in myositis patients.
De Bleecker, Jan, De Paepe, Boel, Verhamme, Fien   +2 more
core   +2 more sources

DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B

Molecular Therapy: Methods & Clinical Development, 2017
Mutations in the gene for dysferlin cause a degenerative disorder of skeletal muscle known as limb girdle muscular dystrophy 2B. To achieve gene delivery of plasmids encoding dysferlin to hind limb muscles of dysferlin knockout mice, we used a vascular ...
Julia Ma, Christophe Pichavant, Haley du Bois, Mital Bhakta, Michele P. Calos   +4 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

A practical approach to the patient presenting with dropped head [PDF]

, 2016
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core   +1 more source

Alternative Splicing: Molecular Mechanisms, Biological Functions, Diseases, and Potential Therapeutic Targets

MedComm, Volume 6, Issue 12, December 2025.
Alternative splicing (AS) expands proteomic diversity and functional complexity in eukaryotes, regulated by spliceosomal components, RNA elements, and epigenetic modifications. Dysregulated AS contributes to diseases, including cancer, neurodegenerative disorders, and cardiovascular conditions, among others. Therapeutic interventions, such as antisense
Zhi‐Min Zhu, Xiao‐Mei Wu, Yan Hu, Xiao‐Lan Bian, Ya‐Qin Wang, Qiong‐Ni Zhu   +5 more
wiley   +1 more source