Edoardo Malfatti

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner, Norma B. Romero, Sandra Donkervoort et al. · Acta Neuropathologica · 2016 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

Johann Böhm, Monica Bulla, Jill Urquhart et al. · Human Mutation · 2017 · 100 citations · Full text

Life Sciences, Genetics, Physiology +9

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 · 51 citations · Full text

Medicine, Neurology, Pathology +9

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 · 46 citations · Full text

Medicine, Molecular Genetics, Pathobiology +9

<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 · 40 citations · Full text

Medicine, Genetics, Molecular Genetics +13