Cinzia Gellera

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, Laura Montermini, María Dolores Moltó et al. · Science · 1996 · 2.7K citations

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

Massimo Zeviani, Serenella Servidei, Cinzia Gellera et al. · Nature · 1989 · 637 citations

Mendelian Disorder, Genetic Disorder, Genetics +11

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Chi-Hong Wu, Claudia Fallini, Nicola Ticozzi et al. · Nature · 2012 · 594 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Developmental Biology +8

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

Massimo Zeviani, Cinzia Gellera, Carlo Antozzi et al. · The Lancet · 1991 · 383 citations

Mitochondrial Myopathy, Mendelian Disorder, Genetic Disorder +8

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

Daniela Di Bella, Federico Lazzaro, Alfredo Brusco et al. · Nature Genetics · 2010 · 338 citations

Mitochondrial Function, Genetic Disorder, Genetics +4