Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview.
Mohamadian M et al.
Journal of Molecular Neuroscience : Mn, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D et al.
Clinical Genetics, 2021
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.
Elmas M et al.
Molecular Syndromology, 2020
Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.
Bai L et al.
Nature Structural & Molecular Biology, 2019
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T et al.
Orphanet Journal of Rare Diseases, 2019
Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience.
Elmas M et al.
Molecular Biology Reports, 2019
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
Yiş U et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).
Mahmood OA et al.
Molecular Medicine Reports, 2014
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
Stevens E et al.
Plos One, 2013
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Bello L et al.
European Journal of Human Genetics : Ejhg, 2012
Limb-girdle muscular dystrophy-associated protein diseases.
Broglio L et al.
The Neurologist, 2010
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Endo T et al.
Methods in Enzymology, 2010
[Congenital muscular dystrophy and alpha-dystroglycanopathy].
Saito F et al.
Rinsho Shinkeigaku = Clinical Neurology, 2008
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Manya H et al.
Neuromuscular Disorders : Nmd, 2008
Muscular dystrophies due to defective glycosylation of dystroglycan.
Muntoni F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C et al.
Brain : a Journal of Neurology, 2007
Physical and functional association of human protein O-mannosyltransferases 1 and 2.
Akasaka-Manya K et al.
The Journal of Biological Chemistry, 2006
The childhood limb-girdle muscular dystrophies.
Straub V et al.
Seminars in Pediatric Neurology, 2006
Expanding the clinical spectrum of POMT1 phenotype.
D'Amico A et al.
Neurology, 2006
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
van Reeuwijk J et al.
Human Mutation, 2006
Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
Martin PT
Nature Clinical Practice. Neurology, 2006
133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands.
Muntoni F et al.
Neuromuscular Disorders : Nmd, 2005
The dystroglycanopathies: the new disorders of O-linked glycosylation.
Martin PT
Seminars in Pediatric Neurology, 2005
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
Balci B et al.
Neuromuscular Disorders : Nmd, 2005
[Severe childhood autosomal recessive muscular dystrophy].
Matsumura K et al.
Rinsho Shinkeigaku = Clinical Neurology, 1995
[A case of severe infantile form of congenital nemaline myopathy with extensive fatty replacement of the skeletal muscles].
Shimizu J et al.
Rinsho Shinkeigaku = Clinical Neurology, 1990