Maria Barbara Pasanisi

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marco Savarese, Lorenzo Maggi, Anna Vihola et al. · JAMA Neurology · 2018 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

Giancarlo Parenti, Simona Fecarotta, Giancarlo la Marca et al. · Molecular Therapy · 2014 · 89 citations · Full text

Life Sciences, Biochemistry, Molecular Medicine +17

Post-intervention Status in Patients With Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension

Renato Mantegazza, Gil I. Wolfe, Srikanth Muppidi et al. · Neurology · 2020 · 79 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +9

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Daniel P. S. Osborn, Heather L. Pond, Neda Mazaheri et al. · The American Journal of Human Genetics · 2017 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Alessandra Ruggieri, Francesco Brancati, Simona Zanotti et al. · Acta Neuropathologica Communications · 2015 · 61 citations · Full text

Medicine, Genetics, Neurology +15