A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizuresGALLANTI, Andrea; TONELLI, Alessandra; CARDIN, Veronica et al.Journal of the neurological sciences. 2008, Vol 273, Num 1-2, pp 123-126, issn 0022-510X, 4 p.Article

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegiaCRIPPA, Francesca; PANZERI, Chris; ORSO, Genny et al.Archives of neurology (Chicago). 2006, Vol 63, Num 5, pp 750-755, issn 0003-9942, 6 p.Article

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNAREVENKOVA, Ekaterina; FOCARELLI, Maria Luisa; JESSBERGER, Rolf et al.Human molecular genetics (Print). 2009, Vol 18, Num 3, pp 418-427, issn 0964-6906, 10 p.Article

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1D'ADDIO, Marilena; PIZZIGONI, Alessandro; BASSI, Maria Teresa et al.Human molecular genetics (Print). 2000, Vol 9, Num 20, pp 3011-3018, issn 0964-6906Article

Senataxin modulates neurite growth through fibroblast growth factor 8 signallingVANTAGGIATO, Chiara; BONDIONI, Sara; AIROLDI, Giovanni et al.Brain. 2011, Vol 134, pp 1808-1828, issn 0006-8950, 21 p., 6Article

Cryptogenic Epileptic Syndromes Related to SCN1A : Twelve Novel Mutations Identified : Neuromics 2008. Part IIZUCCA, Claudio; REDAELLI, Francesca; DE POLO, Gianni et al.Archives of neurology (Chicago). 2008, Vol 65, Num 4, pp 489-494, issn 0003-9942, 6 p.Article

Relationship between migraine and epilepsy in pediatric agePICCINELLI, Paolo; BORGATTI, Renato; NICOLI, Francesca et al.Headache. 2006, Vol 46, Num 3, pp 413-421, issn 0017-8748, 9 p.Article

A 66-YEAR-OLD PATIENT WITH VANISHING WHITE MATTER DISEASE DUE TO THE p.Ala87Val EIF2B3 MUTATIONGHEZZI, Laura; SCARPINI, Elio; GALIMBERTI, Daniela et al.Neurology. 2012, Vol 79, Num 20, pp 2077-2078, issn 0028-3878, 2 p.Article

SMC1A Codon 496 Mutations Affect the Cellular Response to Genotoxic TreatmentsMANNINI, Linda; MENGA, Stefania; TONELLI, Alessandra et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 1, pp 224-228, issn 1552-4825, 5 p.Article

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A geneTONELLI, Alessandra; D'ANGELO, Maria Grazia; SALATI, Roberto et al.Journal of the neurological sciences. 2006, Vol 241, Num 1-2, pp 13-17, issn 0022-510X, 5 p.Article

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15VANTAGGIATO, Chiara; CRIMELLA, Claudia; SANTORELLI, Filippo Maria et al.Brain. 2013, Vol 136, pp 3119-3139, issn 0006-8950, 21 p., 10Article

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxinAIROLDI, Giovanni; GUIDARELLI, Andrea; CRIMELLA, Claudia et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 1, pp 91-100, issn 1364-6745, 10 p.Article

Pleiotropic effects of spastin on neurite growth depending on expression levelsRIANO, Elena; MARTIGNONI, Monica; CAPPELLETTI, Graziella et al.Journal of neurochemistry. 2009, Vol 108, Num 5, pp 1277-1288, issn 0022-3042, 12 p.Article

Agenesis of the corpus callosum : Clinical and genetic study in 63 young patientsBEDESCHI, Maria Francesca; BONAGLIA, Maria Clara; BASSI, Maria Teresa et al.Pediatric neurology. 2006, Vol 34, Num 3, pp 186-193, issn 0887-8994, 8 p.Article

The amino acid transporter asc-1 is not involved in cystinuriaPINEDA, Marta; FONT, Mariona; NUNES, Virginia et al.Kidney international. 2004, Vol 66, Num 4, pp 1453-1464, issn 0085-2538, 12 p.Article