Cecilia Mancini

<i>NT5E</i> Mutations and Arterial Calcifications

Cynthia St. Hilaire, Shira G. Ziegler, Thomas C. Markello et al. · New England Journal of Medicine · 2011 · 444 citations · Full text

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

Stephan Klebe, Christel Depienne, S. Gerber et al. · Brain · 2012 · 165 citations · Full text

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio et al. · The American Journal of Human Genetics · 2014 · 116 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Genetic Disorder +4

Hypoxia-inducible factor (HIF)-1α suppression in myeloma cells blocks tumoral growth in vivo inhibiting angiogenesis and bone destruction

Paola Storti, Marina Bolzoni, Gaetano Donofrío et al. · Leukemia · 2013 · 107 citations

Tumor Biology, Hypoxia-inducible Factor, Tumoral Growth +11

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

Claudia Cagnoli, Giovanni Stévanin, Alessandro Brussino et al. · Human Mutation · 2010 · 91 citations · Full text