Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
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
Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy.
Zhao X et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
[A Japanese family with POMT2-related limb girdle muscular dystrophy].
Tomita Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 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
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Gonzalez-Perez P et al.
Neuromuscular Disorders : Nmd, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.
Bai L et al.
Nature Structural & Molecular Biology, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
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
Limb girdle muscular dystrophy due to mutations in POMT2.
Østergaard ST et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Phenotypic heterogeneity of POMT2 gene variants.
Finsterer J
American Journal of Medical Genetics. Part A, 2018
Response to phenotypic hetergeneity of POMT2 variants.
Guerin A et al.
American Journal of Medical Genetics. Part A, 2018
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.
Abdullah S et al.
American Journal of Medical Genetics. Part A, 2017
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
Punetha J et al.
Journal of Neuromuscular Diseases, 2016
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
Lévesque S et al.
Orphanet Journal of Rare Diseases, 2016
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?
Di Fruscio G et al.
European Journal of Human Genetics : Ejhg, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.
Martinez HR et al.
European Journal of Human Genetics : Ejhg, 2014
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T et al.
Nature Genetics, 2012
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Endo T et al.
Methods in Enzymology, 2010
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
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Yanagisawa A et al.
Neurology, 2007
[Limb-girdle muscular dystrophy; update].
Sunada Y
Rinsho Shinkeigaku = Clinical Neurology, 2004
[A family with oculopharyngeal muscular dystrophy with (GCG)9 expansion in which a sister had neck as well as proximal and her brother proximal lower limb muscle weakness].
Takahashi T et al.
Rinsho Shinkeigaku = Clinical Neurology, 2000
[Staircase phenomenon in "mitochodrial myopathy' and limb-girdle type muscular dystrophy].
Sunohara N et al.
Rinsho Shinkeigaku = Clinical Neurology, 1982
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
Yanagisawa A et al.
European Journal of Medical Genetics, 0