Maria Alice Donati
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Lysosomal Storage Disorders Research, Mitochondrial Function and Pathology, Glycogen Storage Diseases and Myoclonus, Neonatal Health and Biochemistry
Most-Cited Works
- → Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy(1998)586 cited
- → MELAS: Clinical features, biochemistry, and molecular genetics(1992)507 cited
- → Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations(2000)343 cited
- → Clinical and molecular findings in children with complex I deficiency(2004)260 cited
- → Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase(2002)234 cited
- → Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis(2010)232 cited
- → The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies(1997)232 cited
- → Reliability of the North Star Ambulatory Assessment in a multicentric setting(2009)227 cited
- → North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy(2010)213 cited
- → Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes(2016)187 cited