Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.
Damiano C et al.
Journal of Inherited Metabolic Disease, 2026
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 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
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
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
GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB.
Liu Z et al.
Molecular Biomedicine, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.
Tian WT et al.
Annals of Clinical and Translational Neurology, 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
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
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Panicucci C et al.
Jimd Reports, 2018
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E et al.
Orphanet Journal of Rare Diseases, 2017
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
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
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
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
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
Raphael AR et al.
Brain Research, 2014
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
Common disease-associated gene variants in a Saudi Arabian population.
Aleissa M et al.
Annals of Saudi Medicine, 0