VALENTE, ENZA MARIA

VALENTE, ENZA MARIA  

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Advances in genetics of movement disorders 1-gen-2008 Valente, ENZA MARIA
Age and sex prevalence estimate of Joubert syndrome in Italy 1-gen-2020 Nuovo, Sara; Bacigalupo, Ilaria; Ginevrino, Monia; Battini, Roberta; Bertini, Enrico; Borgatti, Renato; Casella, Antonella; Micalizzi, Alessia; Nardella, Marta; Romaniello, Romina; Serpieri, Valentina; Zanni, Ginevra; Valente, Enza Maria; Vanacore, Nicola
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 1-gen-2019 De Mori, R.; Severino, M.; Mancardi, M. M.; Anello, D.; Tardivo, S.; Biagini, T.; Capra, V.; Casella, A.; Cereda, C.; Copeland, B. R.; Gagliardi, S.; Gamucci, A.; Ginevrino, M.; Illi, B.; Lorefice, E.; Musaev, D.; Stanley, V.; Micalizzi, A.; Gleeson, J. G.; Mazza, T.; Rossi, A.; Valente, E.
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders 1-gen-2006 Valente, ENZA MARIA; Brancat, F; Silhavy, Jl; Castori, M; March, Se; Barrano, G; Bertini, E; Boltshauser, E; Zaki, Ms; Abdel Aleem, A; Abdel Salam, Gmh; Bellacchlo, E; Battini, R; Cruse, Rp; Dobyns, Wb; Krishnamoorthy, Ks; Lagier Tourenne, C; Magee, A; Pascual Castroviejo, I; Salpietro, Cd; Sarco, D; Dallapiccola, B; Gleeson, Jg
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 1-gen-2010 Louie, Carrie M.; Caridi, Gianluca; Lopes, Vanda S.; Brancati, Francesco; Kispert, Andreas; Lancaster, Madeline A.; Schlossman, Andrew M.; Otto, Edgar A.; Leitges, Michael; Groene, Hermann Josef; Lopez, Irma; Gudiseva, Harini V.; O'Toole, John F.; Vallespin, Elena; Ayyagari, Radha; Ayuso, Carmen; Cremers, Frans P. M.; den Hollander, Anneke I.; Koenekoop, Robert K.; Dallapiccola, Bruno; Ghiggeri, Gian Marco; Hildebrandt, Friedhelm; Valente, ENZA MARIA; Williams, David S.; Gleeson, Joseph G.
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome 1-gen-2020 Gana, S.; Plumari, M.; Rossi, E.; Saracino, A.; Iorio, M.; Zanaboni, M. P.; Orcesi, S.; Valente, E. M.
Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees 1-gen-2013 Elia, Antonio E.; Petrucci, Simona; Fasano, Alfonso; Guidi, Marco; Valbonesi, Stefano; Bernardini, Laura; Consoli, Federica; Ferraris, Alessandro; Albanese, Alberto; Valente, ENZA MARIA
Altered PLP1 splicing causes hypomyelination of early myelinating structures 1-gen-2015 Kevelam, Sietske H.; Taube, Jennifer R.; van Spaendonk, Rosalina M. L.; Bertini, Enrico; Sperle, Karen; Tarnopolsky, Mark; Tonduti, Davide; Valente, ENZA MARIA; Travaglini, Lorena; Sistermans, Erik A.; Bernard, Genevieve; Catsman Berrevoets, Coriene E.; van Karnebeek, Clara D. M.; Ostergaard, John R.; Friederich, Richard L.; Elsaid, Mahmoud Fawzi; Schieving, Jolanda H.; Tarailo Graovac, Maja; Orcesi, Simona; Steenweg, Marjan E.; van Berkel, Carola G. M.; Waisfisz, Quinten; Abbink, Truus E. M.; van der Knaap, Marjo S.; Hobson, Grace M.; Wolf, Nicole I.
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus dystonia: Evidence for genetic heterogeneity 1-gen-2002 Valente, ENZA MARIA; Misbahuddin, A; Brancati, F; Placzek, Mr; Dallapiccola, B; Warner, Tt
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity 1-gen-2003 Valente, ENZA MARIA; Misbahuddin, A; Brancati, F; Placzek, Mr; Garavaglia, B; Salvi, S; Nemeth, A; Shaw Smith, C; Nardocci, N; Bentivoglio, Ar; Berardelli, A; Eleopra, R; Dallapiccola, B; Warner, Tt
Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome 1-gen-2017 Arrigoni, F; Romaniello, R; Peruzzo, D; De Luca, A; Parazzini, C; Valente, ENZA MARIA; Borgatti, R; Triulzi, F.
APP-Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes 1-gen-2020 Abate, F.; Dati, G.; Ginevrino, M.; Valente, E. M.; Barone, P.; Picillo, M.
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 1-gen-2021 Gana, S.; Casella, A.; Cociglio, S.; Tartara, E.; Rognone, E.; Giorgio, E.; Pichiecchio, A.; Orcesi, S.; Valente, E. M.
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 1-gen-2007 Clarimon, Jordi; Brancati, Francesco; Peckham, Elizabeth; Valente, ENZA MARIA; Dallapiccola, Bruno; Abruzzese, Giovanni; Girlanda, Paolo; Defazio, Giovanni; Berardelli, Alfredo; Hallett, Mark; Singleton, Andrew B.
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study 1-gen-2011 Ross, Owen A.; Soto Ortolaza, Alexandra I.; Heckman, Michael G.; Aasly, Jan O.; Abahuni, Nadine; Annesi, Grazia; Bacon, Justin A.; Bardien, Soraya; Bozi, Maria; Brice, Alexis; Brighina, Laura; Van Broeckhoven, Christine; Carr, Jonathan; Chartier Harlin, Marie Christine; Dardiotis, Efthimios; Dickson, Dennis W.; Diehl, Nancy N.; Elbaz, Alexis; Ferrarese, Carlo; Ferraris, Alessandro; Fiske, Brian; Gibson, J. Mark; Gibson, Rachel; Hadjigeorgiou, Georgios M.; Hattori, Nobutaka; Ioannidis, John P. A.; Jasinska Myga, Barbara; Jeon, Beom S.; Kim, Yun Joong; Klein, Christine; Kruger, Rejko; Kyratzi, Elli; Lesage, Suzanne; Lin, Chin Hsien; Lynch, Timothy; Maraganore, Demetrius M.; Mellick, George D.; Mutez, Eugenie; Nilsson, Christer; Opala, Grzegorz; Park, Sung Sup; Puschmann, Andreas; Quattrone, Aldo; Sharma, Manu; Silburn, Peter A.; Sohn, Young Ho; Stefanis, Leonidas; Tadic, Vera; Theuns, Jessie; Tomiyama, Hiroyuki; Uitti, Ryan J.; Valente, ENZA MARIA; van de Loo, Simone; Vassilatis, Demetrios K.; Vilarino Gueell, Cartes; White, Linda R.; Wirdefeldt, Karin; Wszolek, Zbigniew K.; Wu, Ruey Meei; Farrer, Matthew J.
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? 1-gen-2014 Poretti, Andrea; Haeusler, Martin; von Moers, Arpad; Baumgartner, Bastian; Zerres, Klaus; Klein, Andrea; Aiello, Chiara; Moro, Francesca; Zanni, Ginevra; Santorelli, Filippo M.; Huisman, Thierry A. G. M.; Weis, Joachim; Valente, ENZA MARIA; Bertini, Enrico; Boltshauser, Eugen
Atypical childhood-onset neuroaxonal dystrophy in an Indian girl 1-gen-2019 Jain, S.; Bhasin, H.; Romani, M.; Valente, E.; Sharma, S.
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 1-gen-2006 Gambarin, Mattia; Valente, ENZA MARIA; Liberini, Paolo; Barrano, Giuseppe; Bonizzato, Alberto; Padovani, Alessandro; Moretto, Giuseppe; Fiorio, Mirta; Dallapiccola, Bruno; Smania, Nicola; Fiaschi, Antonio; Tinazzi, Michele
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family 1-gen-2004 Novelli, A; Valente, ENZA MARIA; Bernardini, L; Ceccarini, C; Sinibaldi, L; Caputo, V; Cavalli, P; Dallapiccola, B.
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 1-gen-2003 Brancati, F; Valente, ENZA MARIA; Tadini, G; Caputo, V; Di Benedetto, A; Gelmetti, C; Dallapiccola, B.