VALENTE, ENZA MARIA

VALENTE, ENZA MARIA  

DIPARTIMENTO DI MEDICINA MOLECOLARE  

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"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies 1-gen-2016 Romani, Marta; Mehawej, Cybel; Mazza, Tommaso; Mégarbané, Andre; Valente, ENZA MARIA
"Gluing" phenotypes together The case of GLUT1 1-gen-2011 Valente, ENZA MARIA; Albanese, Alberto
A clinical diagnostic algorithm for early onset cerebellar ataxia 1-gen-2019 Brandsma, R.; Verschuuren-Bemelmans, C. C.; Amrom, D.; Barisic, N.; Baxter, P.; Bertini, E.; Blumkin, L.; Brankovic-Sreckovic, V.; Brouwer, O. F.; Burk, K.; Catsman-Berrevoets, C. E.; Craiu, D.; de Coo, I. F. M.; Gburek, J.; Kennedy, C.; de Koning, T. J.; Kremer, H. P. H.; Kumar, R.; Macaya, A.; Micalizzi, A.; Mirabelli-Badenier, M.; Nemeth, A.; Nuovo, S.; Poll-The, B.; Lerman-Sagie, T.; Steinlin, M.; Synofzik, M.; Tijssen, M. A. J.; Vasco, G.; Willemsen, M. A. A. P.; Zanni, G.; Valente, E.; Boltshauser, E.; Sival, D. A.
A clinical‐based diagnostic approach to cerebellar atrophy in children 1-gen-2021 Ciaccio, C.; Pantaleoni, C.; Taroni, F.; Bella, D. D.; Magri, S.; Lamantea, E.; Ghezzi, D.; Valente, E. M.; Nigro, V.; D'Arrigo, S.
A family study on primary blepharospasm 1-gen-2006 Defazio, G; Martino, D; Aniello, Ms; Masi, G; Abbruzzese, G; Lamberti, S; Valente, ENZA MARIA; Brancati, F; Livrea, P; Berardelli, A.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 1-gen-2022 Calì, Elisa; Lin, Sheng-Jia; Rocca, Clarissa; Sahin, Yavuz; Al Shamsi, Aisha; El Chehadeh, Salima; Chaabouni, Myriam; Mankad, Kshitij; Galanaki, Evangelia; Efthymiou, Stephanie; Sudhakar, Sniya; Athanasiou-Fragkouli, Alkyoni; Çelik, Tamer; Narlı, Nejat; Bianca, Sebastiano; Murphy, David; De Carvalho Moreira, Francisco Martins; Andrea Accogli, Null; Petree, Cassidy; Huang, Kevin; Monastiri, Kamel; Edizadeh, Masoud; Nardello, Rosaria; Ognibene, Marzia; De Marco, Patrizia; Ruggieri, Martino; Zara, Federico; Striano, Pasquale; Şahin, Yavuz; Al-Gazali, Lihadh; Abi Warde, Marie Therese; Gerard, Benedicte; Zifarelli, Giovanni; Beetz, Christian; Fortuna, Sara; Soler, Miguel; Valente, Enza Maria; Varshney, Gaurav; Maroofian, Reza; Salpietro, Vincenzo; Houlden, Henry
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium 1-gen-2014 Thomas, Sophie; Wright, Kevin J.; Le Corre, Stephanie; Micalizzi, Alessia; Romani, Marta; Abhyankar, Avinash; Saada, Julien; Perrault, Isabelle; Amiel, Jeanne; Litzler, Julie; Filhol, Emilie; Elkhartoufi, Nadia; Kwong, Mandy; Casanova, Jean Laurent; Boddaert, Nathalie; Baehr, Wolfgang; Lyonnet, Stanislas; Munnich, Arnold; Burglen, Lydie; Chassaing, Nicolas; Encha Ravazi, Ferechte; Vekemans, Michel; Gleeson, Joseph G.; Valente, ENZA MARIA; Jackson, Peter K.; Drummond, Iain A.; Saunier, Sophie; Attie Bitach, Tania
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 1-gen-2004 Brancati, F; Valente, ENZA MARIA; Sarkozy, A; Feher, J; Castori, M; Del Duca, P; Mingarelli, R; Pizzuti, A; Dallapiccola, B.
A molecular classification of Joubert syndrome 1-gen-2005 Valente, ENZA MARIA; Marsh, Se; Louis, Cm; Silhavey, J; Castori, M; Dixon Salazar, T; Bertini, E; Al Gazali, L; Messer, J; Barbot, C; Woods, Cg; Boltshauser, E; Al Tawari, Aa; Salpietro, Cd; Kayserili, H; Sztriha, L; Gribaa, M; Koenig, M; Dallapiccola, B; Gleeson, Jg; La Jolla, Ca
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study 1-gen-2000 Munchau, A; Valente, ENZA MARIA; Shahidi, Ga; Eunson, Lh; Hanna, Rg; Quinn, Np; Schapira, Ahv; Wood, Nw; Bhatia, Kp
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR 1-gen-2004 Woods, Cg; Valente, ENZA MARIA; Bond, J; Roberts, E.
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter-Tonz Syndrome 1-gen-2012 Mory, Adi; Dagan, Efrat; Illi, Barbara; Duquesnoy, Philippe; Mordechai, Shikma; Shahor, Ishai; Romani, Sveva; Hawash Moustafa, Nivin; Mandel, Hanna; Valente, ENZA MARIA; Amselem, Serge; Gershoni Baruch, Ruth
A novel family with an unusual early-onset generalized dystonia 1-gen-2005 Fabbrini, G; Brancati, F; Vacca, L; Valente, ENZA MARIA; Nemeth, A; Meesaq, A; Sykes, N; Dallapiccola, B; Berardelli, A.
A novel genetic prediction score in myoclonus-dystonia 1-gen-2012 Carecchio, M.; Magliozzi, M.; Copetti, M.; Ferraris, A.; Bernardini, L.; Bonetti, M.; Edwards, M. J.; Torrente, I.; Pellegrini, F.; Comi, C.; Bhatia, K. P.; Valente, ENZA MARIA
A novel IRF2BPL truncating variant is associated with endolysosomal storage 1-gen-2020 Ginevrino, M.; Battini, R.; Nuovo, S.; Simonati, A.; Micalizzi, A.; Contaldo, I.; Serpieri, V.; Valente, E.
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 1-gen-2005 Castori, M; Valente, ENZA MARIA; Clementi, M; Tormene, Ap; Brancati, F; Caputo, V; Dallapiccola, B.
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia 1-gen-2017 Torraco, A.; Bianchi, M.; Verrigni, D.; Gelmetti, V.; Riley, L.; Niceta, M.; Martinelli, D.; Montanari, A.; Guo, Y.; Rizza, T.; Diodato, D.; Di Nottia, M.; Lucarelli, B.; Sorrentino, F.; Piemonte, F.; Francisci, S.; Tartaglia, M.; Valente, ENZA MARIA; Dionisi Vici, C.; Christodoulou, J.; Bertini, E.; Carrozzo, R.
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect 1-gen-2017 Vicario, Mattia; Calì, Tito; Cieri, Domenico; Vallese, Francesca; Bortolotto, Raissa; Lopreiato, Raffaele; Zonta, Francesco; Nardella, Marta; Micalizzi, Alessia; Lefeber, Dirk J; Valente, ENZA MARIA; Bertini, Enrico; Zanotti, Giuseppe; Zanni, Ginevra; Brini, Marisa; Carafoli, Ernesto
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 1-gen-2022 Politano, Davide; Gana, Simone; Pezzotti, Elena; Berardinelli, Angela; Pasca, Ludovica; Carmen Barbero, Veronica; Pichiecchio, Anna; Maria Valente, Enza; Errichiello, Edoardo
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study 1-gen-2016 Mormina, Enricomaria; Briguglio, Marilena; Morabito, Rosa; Arrigo, Alessandro; Marino, Silvia; Di Rosa, Gabriella; Micalizzi, Alessia; Valente, ENZA MARIA; Salpietro, Vincenzo; Vinci, Sergio Lucio; Longo, Marcello; Granata, Francesca