Associated Papers
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.
Damiano C et al.
Journal of Inherited Metabolic Disease, 2026
Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.
Birch CL et al.
Journal of Translational Medicine, 2025
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
Recessive Pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine.
Jewett G et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
Consequences of GMPPB deficiency for neuromuscular development and maintenance.
Schurig MK et al.
Frontiers in Molecular Neuroscience, 2024
Ubiquitination contributes to the regulation of GDP-mannose pyrophosphorylase B activity.
Franzka P et al.
Frontiers in Molecular Neuroscience, 2024
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M et al.
Journal of Neurology, 2023
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
Chompoopong P et al.
Genes, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Polavarapu K et al.
Neurogenetics, 2021
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Ten Dam L et al.
Journal of Neuromuscular Diseases, 2021
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Babić Božović I et al.
Plos One, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.
Sun L et al.
Bosnian Journal of Basic Medical Sciences, 2020
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Gonzalez-Perez P et al.
Neuromuscular Disorders : Nmd, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Astrea G et al.
Orphanet Journal of Rare Diseases, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Johnson K et al.
Skeletal Muscle, 2018
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Sarkozy A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Panicucci C et al.
Jimd Reports, 2018
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
Montagnese F et al.
Muscle & Nerve, 2017
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Balcin H et al.
Neuromuscular Disorders : Nmd, 2017
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
Luo S et al.
Neuromuscular Disorders : Nmd, 2017
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
Oestergaard ST et al.
Neurology. Genetics, 2016
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
Rodríguez Cruz PM et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
Jensen BS et al.
Human Mutation, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Belaya K et al.
Brain : a Journal of Neurology, 2015
Expanding the phenotype of GMPPB mutations.
Cabrera-Serrano M et al.
Brain : a Journal of Neurology, 2015
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Carss KJ et al.
American Journal of Human Genetics, 2013