A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
Source
European journal of human genetics - ISSN 1018-4813- (2025) p.
TBK1-associated motor neuron disease with concomitant vacuolar myopathy : a case resembling a multisystem proteinopathy
Source
Neuromuscular disorders - ISSN 0960-8966-53 (2025) p. 1-4
Muscle biopsy findings in valosin-containing protein multisystem proteinopathy
Source
Neurology : Genetics - ISSN 2376-7839-11:4 (2025) p. 1-13
Ageing signatures and disturbed muscle regeneration in muscle proteome of inclusion body myositis
Source
Journal of cachexia, sarcopenia and muscle - ISSN 2190-5991-16:3 (2025) p. 1-13
Chronic sarcoid myopathy mimicking facioscapulohumeral muscular dystrophy : a case report
Source
Neuromuscular disorders - ISSN 0960-8966-50 (2025) p. 1-4