Cinzia Gellera
Fondazione IRCCS Istituto Neurologico Carlo Besta(IT)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Metabolism and Genetic Disorders
Most-Cited Works
- → Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion(1996)2,758 cited
- → An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region(1989)637 cited
- → Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis(2012)594 cited
- → Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology(2021)522 cited
- → Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)(1991)383 cited
- → Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS(2014)368 cited