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First published 2010-03

Muscular Dystrophy: Central Nervous System α-Dystroglycan Glycosylation Defects and Brain Malformation

Gigliola Fagiolari, Anna Cappellini, Rachele Cagliani [...]

Journal of Child Neurology

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Research article

First published 2005

Characterization of the F198S prion protein mutation: Enhanced glycosylation and defective refolding

Syed I.A. Zaidi, Sandra L. Richardson, Sabina Capellari [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2023

CD5 B-Cell Predominant Primary Immunodeficiency: Part of the Spectrum of MAGT1 Deficiency

Marija J. Rowane, Benjamin C. Stewart-Bates, Rayna J. Doll [...]

Therapeutic Advances in Allergy and Rhinology

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Research article

First published 2014-06

Adeno-Associated Virus-Mediated Overexpression of LARGE Rescues α-Dystroglycan Function in Dystrophic Mice with Mutations in the Fukutin-Related Protein

Charles H. Vannoy, Lei Xu, Elizabeth Keramaris [...]

Human Gene Therapy Methods (Part B)

Open access

Review article

First published 2019

Myo-Glyco disease Biology: Genetic Myopathies Caused by Abnormal Glycan Synthesis and Degradation

Motoi Kanagawa

Journal of Neuromuscular Diseases

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Research article

First published 2007-2

Mass Spectrometry in the Detection and Diagnosis of Congenital Disorders of Glycosylation

Yoshinao Wada

European Journal of Mass Spectrometry

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Research article

First published 1999-08

Co-Secretion of Two Distinct Kappa Light Chains by the Mu-9 Hybridoma

Indira S. Krishnan, Hans J. Hansen, David V. Gold [...]

Monoclonal Antibodies in Immunodiagnosis & Immunotherapy

Open access

Review article

First published 2015

Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein

Céline Bouchet-Séraphin, Sandrine Vuillaumier-Barrot, Nathalie Seta

Journal of Neuromuscular Diseases

Open access

Case report

First published 2022

Mannose treatment improves immune deficiency in mannose phosphate isomerase–congenital disorder of glycosylation: case report and review of literature

Diederik De Graef, Jehan Mousa, Marta Biderman Waberski [...]

Therapeutic Advances in Rare Disease

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Research article

First published 2014-2

Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease

Madalina Raducu, Rocío P. Cotarelo, Rogelio Simón [...]

Journal of Child Neurology

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