Results 1 to 10 of about 805 (150)

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies [PDF]

Annals of Clinical and Translational Neurology
Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset.
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
doaj   +10 more sources

Clinical aspects of patients with sarcoglycanopathies under steroids therapy [PDF]

Arquivos De Neuro-Psiquiatria, 2014
Patients with sarcoglycanopathies, which comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies, usually present with progressive weakness leading to early loss of ambulation and premature death, and no effective treatment is ...
Edmar Zanoteli, Gerson Chadi, Umbertina C Reed   +2 more
exaly   +4 more sources

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies [PDF]

Annals of Clinical and Translational Neurology
Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium   +16 more
doaj   +4 more sources

Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy [PDF]

European Journal of Histochemistry, 2022
Sarcoglycanopathies are highly heterogeneous in terms of disease progression, muscular weakness, loss of ambulation and cardiac/respiratory involvement.
Simona Zanotti, Francesca Magri, Francesca Poggetti, Michela Ripolone, Daniele Velardo, Francesco Fortunato, Patrizia Ciscato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Monica Sciacco   +10 more
doaj   +2 more sources

Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review [PDF]

Arquivos de Neuro-Psiquiatria, 2023
Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes ...
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Nyvia Milicio Coblinski Hrysay, Raquel Cristina Arndt, Lineu Cesar Werneck, Rosana Herminia Scola   +8 more
doaj   +2 more sources

Prognostic value of right ventricular–pulmonary artery coupling in patients with muscular dystrophies [PDF]

Scientific Reports
Muscular dystrophies can affect the heart and the respiratory system. Right ventricular‒pulmonary artery (RV‒PA) coupling may reflect right ventricular adaptation to respiratory status.
Abdallah Fayssoil, Nicolas Mansencal, Cendrine Chaffaut, Karim Wahbi, Frederic Lofaso, Helene Prigent, David Orlikowski, Bernard Clair, Pascal Laforet, Guillaume Bassez, Anthony Behin, Bertrand Fontaine, Henri -Marc Becane, Denis Duboc, Olivier Dubourg, Sylvie Chevret, Djillali Annane, Tanya Stojkovic   +17 more
doaj   +2 more sources

Sarcoglycans are enriched at the neuromuscular junction in a nerve-dependent manner [PDF]

Cell Death and Disease
Sarcoglycanopathies are heterogeneous proximo-distal diseases presenting severe muscle alterations. Although there are 6 different sarcoglycan isoforms, sarcoglycanopathies are caused exclusively by mutations in genes coding for one of the four ...
Michela Gloriani, Bianca Cheli, Chiara D’Ercole, Veronica Ruggieri, Marianna Cosentino, Mireia Serrat Pineda, Biliana Lozanoska-Ochser, Francesca Grassi, Marina Bouché, Luca Madaro, Carles Sánchez Riera   +10 more
doaj   +2 more sources

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9. [PDF]

Ann Clin Transl Neurol
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Miller CL, Coffey LN, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman MB, Mathews KD.   +6 more
europepmc   +2 more sources

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 more
europepmc   +2 more sources

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients

Orphanet Journal of Rare Diseases, 2019
Background Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD genes.
Zhaoxia Wang, Meng Yu, Zhiying Xie
exaly   +3 more sources