ROBERTO
FERNÁNDEZ TORRON

Foto de ROBERTO

Foto de University of Helsinki

University of Helsinki

Helsinki, Finlandia

Publicaciones en colaboración con investigadores/as de University of Helsinki (4)

2024

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis (Journal of Neurology, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)
Journal of Neurology

2023

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865

2020

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488

2018

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
Skeletal Muscle, Vol. 8, Núm. 1