Publication & Citation Trends
Publications
0 total
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene OA
Cited by 8
Semantic Scholar
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature. OA
Cited by 29
Semantic Scholar
XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary)
Cited by 0
Semantic Scholar
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. OA
Cited by 107
Semantic Scholar
Adult-onset leukodystrophies from respiratory chain disorders: do they exist?
Cited by 7
Semantic Scholar
A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation
Cited by 16
Semantic Scholar
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.
Cited by 20
Semantic Scholar
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing OA
Cited by 39
Semantic Scholar
Research Topics
Mitochondrial Function and Pathology
(17)
Metabolism and Genetic Disorders
(10)
ATP Synthase and ATPases Research
(6)
Photosynthetic Processes and Mechanisms
(2)
RNA modifications and cancer
(2)
Affiliations
University of Milan
Universitätsmedizin Greifswald
Casa Sollievo della Sofferenza
Fondazione Pierfranco e Luisa Mariani
Federico II University Hospital