J. Díaz-Manera

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

C. Paradas, S. Pascual-Pascual, C. Domínguez-González, 2023, Neuromuscular Disorders.

Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy: A GRASP-LGMD study

C. Weihl, T. Mozaffar, Lindsay N. Alfano, 2023, Research square.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Beryl B. Cummings, Kristen M. Laricchia, A. O’Donnell-Luria, 2024, Nature genetics.

Provisional practice recommendation for the management of Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy myopathy in VCP-associated multisystem proteinopathy

M. Milone, M. Freimer, J. Palmio, 2022 .