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Not available anywhere: 37
Review
Phenotypic spectrum of alpha-synuclein mutations: new insights from patients and cellular models
S Petrucci, M Ginevrino, EM Valente
Parkinsonism & related disorders 22, S16-S20, 2016
Mandates: Government of Italy
Review
Genome‐wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus?
K Lohmann, A Schmidt, A Schillert, S Winkler, A Albanese, F Baas, ...
Movement Disorders 29 (7), 921-927, 2014
Mandates: German Research Foundation, Government of Spain, Government of Italy
Review
Phenotypic variability of PINK1 expression: 12 Years' clinical follow‐up of two Italian families
L Ricciardi, S Petrucci, A Guidubaldi, T Ialongo, L Serra, A Ferraris, ...
Movement Disorders 29 (12), 1561-1566, 2014
Mandates: Fondazione Telethon, Italy, European Commission, Government of Italy
Review
Exposure to low-dose rotenone precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice
G Martella, G Madeo, M Maltese, V Vanni, F Puglisi, E Ferraro, T Schirinzi, ...
Neurobiology of Disease 91, 21-36, 2016
Mandates: Government of Italy
Review
Candidate genes for Parkinson disease: lessons from pathogenesis
P De Rosa, ES Marini, V Gelmetti, EM Valente
Clinica Chimica Acta 449, 68-76, 2015
Mandates: Fondazione Telethon, Italy, Government of Italy
Review
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
R Romaniello, F Arrigoni, E Panzeri, A Poretti, A Micalizzi, A Citterio, ...
European radiology 27, 5080-5092, 2017
Mandates: European Commission, Government of Italy
Review
Parkinson disease genetics: a “continuum” from Mendelian to multifactorial inheritance
S Petrucci, F Consoli, EM Valente
Current molecular medicine 14 (8), 1079-1088, 2014
Mandates: Fondazione Telethon, Italy, European Commission, Government of Italy
Review
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
F Nicita, M Ginevrino, L Travaglini, S D'Arrigo, G Zorzi, R Borgatti, ...
Journal of Medical Genetics 58 (7), 475-483, 2021
Mandates: European Commission, Government of Italy
Review
Infantile and childhood onset PLA2G6‐associated neurodegeneration in a large North African cohort
M Romani, I Kraoua, A Micalizzi, H Klaa, H Benrhouma, C Drissi, I Turki, ...
European journal of neurology 22 (1), 178-186, 2015
Mandates: European Commission, Government of Italy
Review
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
C Bonnard, M Shboul, SH Tonekaboni, AYJ Ng, S Tohari, K Ghosh, A Lai, ...
European journal of medical genetics 61 (10), 585-595, 2018
Mandates: A*Star, Singapore, European Commission, National Medical Research Council …
Review
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis
F Arrigoni, R Romaniello, D Peruzzo, A Poretti, MT Bassi, C Pierpaoli, ...
European radiology 29, 770-782, 2019
Mandates: European Commission, Government of Italy
Review
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like …
CC Quattrocchi, G Zanni, A Napolitano, D Longo, DM Cordelli, S Barresi, ...
Neurogenetics 14, 77-83, 2013
Mandates: Fondazione Telethon, Italy
Review
A novel IRF2BPL truncating variant is associated with endolysosomal storage
M Ginevrino, R Battini, S Nuovo, A Simonati, A Micalizzi, I Contaldo, ...
Molecular Biology Reports 47, 711-714, 2020
Mandates: European Commission, Government of Italy
Review
Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report
C Gagliardi, V Brenna, R Romaniello, F Arrigoni, A Tavano, M Romani, ...
Research in developmental disabilities 47, 375-384, 2015
Mandates: European Commission
Review
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia
M Walter, M Bonin, RS Pullman, EM Valente, M Loi, M Gambarin, ...
Neurobiology of Disease 38 (2), 192-200, 2010
Mandates: US National Institutes of Health
Review
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
S Nuovo, A Micalizzi, R Romaniello, F Arrigoni, M Ginevrino, A Casella, ...
Journal of medical genetics 59 (4), 399-409, 2022
Mandates: European Commission, Government of Italy
Review
PINK1 and Parkin: the odd couple
ED Yoboue, EM Valente
Neuroscience Research 159, 25-33, 2020
Mandates: Fondazione Cariplo, Government of Italy
Review
Genetic testing for paediatric neurological disorders
EM Valente, A Ferraris, B Dallapiccola
The Lancet Neurology 7 (12), 1113-1126, 2008
Mandates: US National Institutes of Health
Review
Social prediction in pediatric patients with congenital, non-progressive malformations of the cerebellum: From deficits in predicting movements to rehabilitation in virtual reality
C Urgesi, N Butti, A Finisguerra, E Biffi, EM Valente, R Romaniello, ...
Cortex 144, 82-98, 2021
Mandates: Government of Italy
Review
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity
S Gana, A Casella, S Cociglio, E Tartara, E Rognone, E Giorgio, ...
Journal of Medical Genetics 59 (8), 781-784, 2022
Mandates: Government of Italy
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