CMD Publication Library
Congenital Muscular Dystrophy:

alpha-Dystroglycanopathies
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Urinary titin as a biomaker in Fukuyama congenital muscular dystrophy, Sato, 2021
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The Outcomes and Experience of Pregnancy in Limb Girdle Muscular Dystrophy Type R9, Libell, 2021
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Fukutin-Related Protein: From Pathology to Treatments, Oritz-Cordero, 2020
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Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related, Libell, 2020
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Development of A2G80 peptide-gene complex for target delivery to muscle cells, Nirasawa, 2020
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Minimal Consequences of CMAH and DBA/2J Background on a FKRP Deficient Model, Vaubourg, 2020
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Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related, Libell, 2020
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A molecular overview of the primary dystroglycanopathies, 2019
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Further evidence for POMK as candidate gene for WWS with meningoencephalocele, Paul, 2020
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Motor outcome measures in patients with FKRP mutations, longitudinal follow-up, Gedlinske, 2020
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Reporting One Very Rare Pathogenic Variation c.1106G>A in POMT2 Gene, Mahjoub, 2020
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FAM3B/PANDER-Like Carbohydrate-Biinding Domain in a Glycosyltransferase, POMGNT1, Manya, 2020
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A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy, Saylam, 2020
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Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement, Fu, 2019
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Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB), Arvio, 2019
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Advances in imaging of brain abnormalities in neuromuscular disease, Angelini, 2019
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Renal dysfunction is rare in Fukuyama congenital muscular dystrophy, Ishigaki, 2019
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Limb girdle muscular dystrophy due to mutations in POMT2, Oestergaard, 2018
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Chick embryonic cells as a source for generating in vitro model of muscle cell dystrophy, Urja, 2018
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Clinical features and FKRP mutations of congenital muscular dystrophy 1C, Hong, 2018
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National registry of patients with Fukuyama congenital muscular dystrophy in Japan, Ishigaki, 2018
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Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report, Fecarotta
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Recent advancements in understanding mammalian Omannosylation, Sheikh, 2018
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Uniparental disomy unveils a novel recessive mutation in POMT2, Brun, 2018
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Cell endogenous activities of fukutin and FKRP coexist with TMEM5, Nishirara, 2018
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Untangling the Complexity of Limb-girdle Muscular Dystrophies, Liewluck, 2018
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Recent advancements in understanding mammalian 0-mannosylation, Sheikh, 2017
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Spinal correction in patients with Fukuyama congenital muscular dystrophy, Saito, 2017
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Recent advancements in understanding mammalian O-mannosylation, Sheikh, 2017
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Mutations in GMPPB Presenting with Pseudometabolic Myopathy, Panicucci, 2017
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Congenital Muscular Dystrophies and Myopathies: An Overview and Update, Schorling, 2017​
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aDystroglycan hypoglycosylation affects cell migration by influencing B-dystroglycan membrane clustering and filopodia length: a multiscale confocal microscopy analysis, Palmieri, 2017​
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Spinal fusion in a patient with Fukuyama congenital muscular dystrophy, Hino, 2017
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Structural flexibility of human a-dystroglycan, Covaceuszach, 2017
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Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations, Balcin, 2017
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Cell endogenous activities of fukutin and FKRP coexist with TMEM5, Nishihara, 2016
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The gross motor function measure is valid for Fukuyama congenital muscular dystrophy, Sato, 2016
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Structure of protein O-mannose kinase reveals a unique active site architecture, Zhu, 2016
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The muscular dystrophy gene TMEM5 encodes a ribitol β1-4 Xylosyltransferase required for the functional glycosylation of dystroglycan, Manya, 2016
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Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I, Brun, 2016​
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Prenatal muscle development in a mouse model for the secondary dystroglycanopathies, Kim, 2016
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Respiratory management of patients with Fukuyama congenital muscular dystrophy, Sato, 2016
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Rhabdomyolysis featuring muscular dystrophies, Lahoria, 2016​
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POMGNT2 mutations are associated with milder forms of limb girdle muscular dystrophy, Endo, 2015
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Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy, Ishigaki, 2015