Edoardo Malfatti

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner, Norma B. Romero, Sandra Donkervoort et al. · Acta Neuropathologica · 2016 · 132 citations · Full text

Congenital Myopathy, Mendelian Disorder, Degenerative Disease +1

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

Johann Böhm, Monica Bulla, Jill Urquhart et al. · Human Mutation · 2017 · 97 citations · Full text

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

Osório Lopes Abath Neto, Cristiane Araújo Martins Moreno, Edoardo Malfatti et al. · Neuromuscular Disorders · 2017 · 49 citations · Full text

Medicine, Pathology, Neuropathology

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Sandra Donkervoort, Carl Elias Kutzner, Ying Hu et al. · The American Journal of Human Genetics · 2020 · 45 citations · Full text

Autoimmune Disease, Medicine, Genetics +5

<scp><i>GGPS1</i></scp> Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

A. Reghan Foley, Yaqun Zou, James E. Dunford et al. · Annals of Neurology · 2020 · 38 citations · Full text