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
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
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
Magri F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
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
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations.
Harris E et al.
Neuromuscular Disorders : Nmd, 2017
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