Associated Papers
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F et al.
Genes, 2023
37510298 (PubMed )
Supplement: genes-14-01393-s001.zip › Supplementary_tabS1.xlsx › Foglio1
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Lawal TA et al.
Orphanet Journal of Rare Diseases, 2020
Malignant hyperthermia, a Scandinavian update.
Broman M et al.
Acta Anaesthesiologica Scandinavica, 2015
Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia.
Schiemann AH et al.
British Journal of Anaesthesia, 2013
Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.
Broman M et al.
British Journal of Anaesthesia, 2009
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