| Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p C Jodice, E Mantuano, L Veneziano, F Trettel, G Sabbadini, ... Human molecular genetics 6 (11), 1973-1978, 1997 | 351 | 1997 |
| Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 D Di Bella, F Lazzaro, A Brusco, M Plumari, G Battaglia, A Pastore, ... Nature genetics 42 (4), 313-321, 2010 | 350 | 2010 |
| Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2 S Guida, F Trettel, S Pagnutti, E Mantuano, A Tottene, L Veneziano, ... The American Journal of Human Genetics 68 (3), 759-764, 2001 | 191 | 2001 |
| A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs M Spadaro, S Ursu, F Lehmann-Horn, V Liana, A Giovanni, G Paola, ... Neurogenetics 5, 177-185, 2004 | 162 | 2004 |
| A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs M Spadaro, S Ursu, F Lehmann-Horn, V Liana, A Giovanni, G Paola, ... Neurogenetics 5, 177-185, 2004 | 162 | 2004 |
| The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. P Giunti, G Sabbadini, MG Sweeney, MB Davis, L Veneziano, ... Brain: a journal of neurology 121 (3), 459-467, 1998 | 131 | 1998 |
| Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ... Nature communications 10 (1), 4920, 2019 | 122 | 2019 |
| De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions NE Mencacci, EJ Kamsteeg, K Nakashima, L R’Bibo, DS Lynch, B Balint, ... The American Journal of Human Genetics 98 (4), 763-771, 2016 | 120 | 2016 |
| Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2 E Mantuano, S Romano, L Veneziano, C Gellera, B Castellotti, S Caimi, ... Journal of the neurological sciences 291 (1-2), 30-36, 2010 | 85 | 2010 |
| ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients M Carecchio, NE Mencacci, A Iodice, R Pons, C Panteghini, G Zorzi, ... Parkinsonism & related disorders 41, 37-43, 2017 | 84 | 2017 |
| A Novel NKX2.1 Mutation in a Family with Hypothyroidism and Benign Hereditary Chorea AM Ferrara, G De Michele, E Salvatore, L Di Maio, E Zampella, ... Thyroid 18 (9), 1005-1009, 2008 | 66 | 2008 |
| Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders E Mantuano, L Veneziano, C Jodice, M Frontali Cytogenetic and genome research 100 (1-4), 147-153, 2003 | 63 | 2003 |
| Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2. 1 causing episodic ataxia 2 E Mantuano, L Veneziano, M Spadaro, P Giunti, S Guida, MG Leggio, ... Journal of medical genetics 41 (6), e82-e82, 2004 | 56 | 2004 |
| Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea C Provenzano, L Veneziano, R Appleton, M Frontali, D Civitareale Journal of the neurological sciences 264 (1-2), 56-62, 2008 | 43 | 2008 |
| Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation P Giunti, E Mantuano, M Frontali, L Veneziano Frontiers in cellular neuroscience 9, 36, 2015 | 42 | 2015 |
| A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area P Malaspina, M Tsopanomichalou, T Duman, M Stefan, A Silvestri, ... Annals of human genetics 65 (4), 339-349, 2001 | 42 | 2001 |
| A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review … L Veneziano, MH Parkinson, E Mantuano, M Frontali, KP Bhatia, P Giunti The Cerebellum 13, 588-595, 2014 | 36 | 2014 |
| Leukocyte telomere shortening in Huntington's disease D Scarabino, L Veneziano, M Peconi, M Frontali, E Mantuano, RM Corbo Journal of the Neurological Sciences 396, 25-29, 2019 | 30 | 2019 |
| Genetic fitness in Huntington's disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions M Frontali, G Sabbadini, A Novelletto, C Jodice, F Naso, M Spadaro, ... Annals of human genetics 60 (5), 423-435, 1996 | 30 | 1996 |
| Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. L Calandriello, L Veneziano, A Francia, G Sabbadini, C Colonnese, ... Brain: a journal of neurology 120 (5), 805-812, 1997 | 29 | 1997 |
