Associated Papers
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
38127101 (PubMed )
Supplement: 415_2023_12101_MOESM2_ESM.xlsx › Tabellenblatt1
A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review.
Sun Q et al.
Molecular Genetics & Genomic Medicine, 2024
Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1.
Pühringer M et al.
Molecular Genetics and Metabolism Reports, 2024
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F et al.
Genes, 2023
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
35239206 (PubMed )
Supplement: ENE-29-1815-s001.xlsx › Supplementary_Table_1
Met1-linked ubiquitin signalling in health and disease: inflammation, immunity, cancer, and beyond.
Jahan AS et al.
Cell Death and Differentiation, 2021
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.
Phadke R et al.
Journal of Inherited Metabolic Disease, 2020
Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.
Krenn M et al.
European Journal of Neurology, 2020
Update on polyglucosan storage diseases.
Cenacchi G et al.
Virchows Archiv : an International Journal of Pathology, 2019
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
Krenn M et al.
Journal of Neurology, 2018
The Met1-Linked Ubiquitin Machinery: Emerging Themes of (De)regulation.
Hrdinka M et al.
Molecular Cell, 2017
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
Nilsson J et al.
Annals of Neurology, 2013
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