Simona Petrucci | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Whole-exome sequencing for variant discovery in blepharospasm	MOLECULAR GENETICS & GENOMIC MEDICINE	2018
BDNF and LTP-/LTD-like plasticity of the primary motor cortex in Gilles de la Tourette syndrome	EXPERIMENTAL BRAIN RESEARCH	2017
DYT2 screening in early-onset isolated dystonia	EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY	2017
Genetic paradoxes in an italian family with PARK2 multiexon duplication	MOVEMENT DISORDERS CLINICAL PRACTICE	2017
Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier	MOVEMENT DISORDERS CLINICAL PRACTICE	2017
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases	NEUROBIOLOGY OF AGING	2017
The Contursi Family 20 years later. intrafamilial phenotypic variability of the SNCA p.A53T mutation	MOVEMENT DISORDERS	2016
Phenotypic spectrum of alpha-synuclein mutations. New insights from patients and cellular models	PARKINSONISM & RELATED DISORDERS	2016
Brain connectivity changes in autosomal recessive Parkinson disease. A model for the sporadic form	PLOS ONE	2016
Impulsive-compulsive behaviors in parkin -associated Parkinson disease	NEUROLOGY	2016
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations. clinical, molecular and biochemical characterization in three sibs	JOURNAL OF THE NEUROLOGICAL SCIENCES	2015
Genetics and Molecular Biology of Parkinson Disease	Movement Disorders. Genetics and Models	2015