Results 101 to 110 of about 805 (150)

A novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology data. [PDF]

J Cachexia Sarcopenia Muscle
Xie Z, Liu C, Sun C, Lu Y, Wu S, Liu Y, Wang Q, Wan Y, Wang Y, Yu M, Meng L, Deng J, Zhang W, Wang Z, Yang C, Yuan Y, Xie Z.   +16 more
europepmc   +1 more source

Genetics and Genomics of Pediatric Neurological Disorders: An Overview of Current Insights and Future Directions. [PDF]

Genes (Basel)
Trabacca A, De Rinaldis M, Oliva MC, Notaristefano I, Gallo I, Ferrante C, Fanizza I.   +6 more
europepmc   +1 more source

Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications. [PDF]

Neurol Genet
Berling E, Reyngoudt H, Le Guillou A, Noury JB, Cintas P, Cadot B, Ackermann-Bonan I, Marty B, Fromes Y, Fernandez-Eulate G, Masingue M, Béhin A, Bassez G, Rouyer A, Lefeuvre C, Laforet P, Nicolas G, Konyukh M, Quadrio I, Carlier RY, Stojkovic T.   +20 more
europepmc   +1 more source

Effects of Nintedanib on Orofacial Fibroblasts and Myoblasts. [PDF]

Biomolecules
Wang Z, Wagener FADTG, Ongkosuwito EM, Von den Hoff JW.   +3 more
europepmc   +1 more source

Mutational spectrum of sarcoglycanopathies in Spain

, 2011
Castro Gago, Manuel, Navarro Fernández-Balbuena, Carmen   +1 more
openaire   +1 more source

Advanced therapeutic approaches in sarcoglycanopathies [PDF]

Current Opinion in Pharmacology
Sarcoglycanopathies are rare autosomal recessive diseases belonging to the family of limb-girdle muscular dystrophies. They are caused by mutations in the genes coding for α-, β-, γ-, and δ-sarcoglycan. The mutations impair the assembly of a key structural complex, which normally protects the sarcolemma of striated muscle from contraction-derived ...
Dorianna Sandonà, Martina Scano, Alberto Benetollo   +2 more
exaly   +4 more sources

Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

Neuromuscular Disorders, 2001
Sarcoglycanopathies constitute a subgroup of limb-girdle recessive muscular dystrophies due to defects in sarcoglycan complex that comprises five distinct transmembrane proteins called alpha-, beta-, gamma-, delta-and epsilon-sarcoglycans. As it is well known that sarcoglycans are expressed both in heart and in skeletal muscles and a complete ...
Vincenzo Nigro, Marina Mora, L I Comi
exaly   +6 more sources

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Sarcoglycanopathies: an update

Neuromuscular Disorders, 2021
Sarcoglycanopathies are the most severe forms of autosomal recessive limb-girdle muscular dystrophies (LGMDs), constituting about 10-25% of LGMDs. The clinical phenotype is variable, but onset is usually in the first decade of life. Patients present muscle hypertrophy, elevated CK, variable muscle weaknesses, and progressive loss of ambulation.
Mariz Vainzof, Lucas S Souza, Juliana Gurgel-Giannetti   +2 more
exaly   +3 more sources

Cardiac diseases in sarcoglycanopathies

International Journal of Cardiology, 2010
Abstract Sarcoglycanopathies (SGs) are autosomal recessive limb-girdle muscular dystrophies (LGMD). These dystrophies are caused by mutations in any of the four sarcoglycan genes: α (LGMD 2D), β (LGMD 2E), γ (LGMD 2C) and δ (LGMD 2F). We discuss heart involvement in these diseases.
Abdallah Fayssoil
exaly   +3 more sources

Pathogenesis, clinical features and diagnosis of sarcoglycanopathies

Expert Opinion on Orphan Drugs, 2016
Introduction: By reviewing the literature from the last twenty years we present an accurate assessment of the state of the art in the pathogenesis and clinical presentations of sarcoglycanopathies, as well as the progress in diagnosis and treatment ...
Corrado Angelini, Marina Fanin
exaly   +2 more sources