Associated Papers
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies.
Yang G et al.
Orphanet Journal of Rare Diseases, 2025
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of 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 renal cell carcinoma tumorgraft platform to advance precision medicine.
Elias R et al.
Cell Reports, 2021
[A Japanese family with POMT2-related limb girdle muscular dystrophy].
Tomita Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 2021
A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.
Yıldırım M et al.
Turkish Archives of Pediatrics, 2021
Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy.
Chen XY et al.
Frontiers in Genetics, 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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
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
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
Punetha J et al.
Journal of Neuromuscular Diseases, 2016
[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