A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
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			European journal of human genetics - ISSN 1018-4813- (2025) p. 
					
Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy
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			The journal of physiology - ISSN 0022-3751-603:17 (2025) p. 4907-4910
					
TBK1-associated motor neuron disease with concomitant vacuolar myopathy : a case resembling a multisystem proteinopathy
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			Neuromuscular disorders - ISSN 0960-8966-53 (2025) p. 1-4
					
Muscle biopsy findings in valosin-containing protein multisystem proteinopathy
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			Neurology : Genetics - ISSN 2376-7839-11:4 (2025) p. 1-13
					
Non-muscle myosin II regulates presynaptic actin and neuronal mechanobiology in Drosophila
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			The journal of cell biology - ISSN 0021-9525-224:9 (2025) p.