G Fabrizi
University of Verona(IT)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurological diseases and metabolism, Peripheral Neuropathies and Disorders, Mitochondrial Function and Pathology, Cardiac pacing and defibrillation studies
Most-Cited Works
- → A Gene Specifying Subunit VIII of Human Cytochrome c Oxidase Is Localized to Chromosome 11 and Is Expressed in Both Muscle and Non-muscle Tissues(1989)175 cited
- → Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton(2006)151 cited
- → Giant axon and neurofilament accumulation in Charcot–Marie–Tooth disease type 2E(2004)118 cited
- → Two novel mutations in dynamin-2 cause axonal Charcot–Marie–Tooth disease(2007)88 cited
- → Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease(2015)62 cited
- → The Clinical Aspects of Adult Hexosaminidase Deficiencies(1991)51 cited
- → A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol [EudraCT no.: 2006-000032-27](2006)51 cited
- → The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.(1996)49 cited
- → Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study(2019)35 cited
- → PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker(2014)33 cited