Maja Di Rocco
Chief Unit Rare Diseases, Department of Pediatrics · IRCCS Istituto Giannina Gaslini
https://researchid.co/diroccomaja
@gaslini.org
283Scopus Publications
13480Google Scholar Citations
63Google Scholar h-index
198Google Scholar i10-index
Research Interests
Genetic diseases, Metabolic diseases
Education
Main Degree:Medicine and Surgery, Universitiy of Genoa, 1979 Postgraduated degree Pediatrics,University of Genoa 1984 Postgraduated degree Pediatric Neurology and Psychiatry ,University of Genoa, 1987
Recent Scopus Publications
- Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy
- Hearing loss predictive model in fibrodysplasia ossificans progressiva from a national referral center: developing an hearing loss predictive model
- The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
- Characterization of flare-ups and impact of garetosmab in adults with fibrodysplasia ossificans progressiva: A post hoc analysis of the randomized, double-blind, placebo-controlled LUMINA-1 trial
- Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus
Links
- ORCID https://orcid.org/0000-0003-1196-8271
- Google Scholar https://scholar.google.com/citations?user=N8OF4_MAAAAJ
- Scopus https://www.scopus.com/authid/detail.uri?authorId=15755169600