Cecilia Mancini
Probigua(GT)Bambino Gesù Children's Hospital(IT)Britannia University(BD)Université de Montréal(CA)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Multiple Myeloma Research and Treatments
Most-Cited Works
- → NT5E Mutations and Arterial Calcifications(2011)446 cited
- → Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy(2012)167 cited
- → ELOVL5 Mutations Cause Spinocerebellar Ataxia 38(2014)118 cited
- → Hypoxia-inducible factor (HIF)-1α suppression in myeloma cells blocks tumoral growth in vivo inhibiting angiogenesis and bone destruction(2013)107 cited
- → Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias(2010)91 cited
- → Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes(2017)88 cited