Gian Maria Fabrizi

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Luca Rampoldi, Carol Dobson‐Stone, Justin P. Rubio et al. · Nature Genetics · 2001 · 356 citations

Life Sciences, Cell Biology, Molecular Biology +4

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA

Shuji Mita, Rosario Rizzuto, Carlos T. Moraes et al. · Nucleic Acids Research · 1990 · 343 citations · Full text

Life Sciences, Genetics, Neurology +15

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

Davide Pareyson, Mary M. Reilly, Angelo Schenone et al. · The Lancet Neurology · 2011 · 260 citations · Full text

Dentistry, Diagnostic Sciences, Oral Diagnosis +4

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Jan Senderek, Carsten Bergmann, Claudia Stendel et al. · The American Journal of Human Genetics · 2003 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples

Matilde Bongianni, Christina D. Orrú, Bradley R. Groveman et al. · JAMA Neurology · 2016 · 203 citations · Full text

Veterinary Medicine, Infectious Diseases, Neurology +17