Massimo Plumari

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Daniela Di Bella, Federico Lazzaro, Alfredo Brusco et al. · Nature Genetics · 2010 · 344 citations

Life Sciences, Genetics, Molecular Genetics +10

Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial

Caterina Mariotti, Roberto Fancellu, Serena Caldarazzo et al. · Movement Disorders · 2012 · 63 citations

Medicine, Pharmacology, Pharmacotherapy +9

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

Barbara Castellotti, Caterina Mariotti, Marco Rimoldi et al. · Neurogenetics · 2011 · 48 citations

Life Sciences, Genetics, Neurology +15

Concurrent <i>AFG3L2</i> and <i>SPG7</i> mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation

Stefania Magri, Valentina Fracasso, Massimo Plumari et al. · Human Mutation · 2018 · 44 citations · Full text

Life Sciences, Genetics, Neurology +17