Cinzia Baschirotto

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2

Claudia Crimella, Cinzia Baschirotto, Alessia Arnoldi et al. · Clinical Genetics · 2011 · 156 citations

Genetics, Molecular Genetics, Disease Gene Identification +17

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation

Renato Borgatti, Claudio Zucca, Anna Cavallini et al. · Neurology · 2004 · 152 citations

Ocular albinism: evidence for a defect in an intracellular signal transduction system

Maria Vittoria Schiaffino, Marilena d'Addio, Anna Alloni et al. · Nature Genetics · 1999 · 132 citations

Signal Transduction, Ophthalmology, Experimental Ophthalmology +9

The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.

Maria Vittoria Schiaffino, Cinzia Baschirotto, Graziella Pellegrini et al. · Proceedings of the National Academy of Sciences · 1996 · 91 citations

Gene Product, Ocular Disease, Molecular Biology +17

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation

Romina Romaniello, Claudio Zucca, A. Tonelli et al. · Journal of Neurology Neurosurgery & Psychiatry · 2010 · 64 citations