A. Martínez Arroyo

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

F. Baas, E. Mercuri, F. Muntoni, 2019 .

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.