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VALENTE, Enza Maria

VALENTE, Enza Maria  

Dipartimento di Scienze chimiche, biologiche, farmaceutiche e ambientali  

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"Gluing" phenotypes together: the case of GLUT1. 1-gen-2011 Valente EM; Albanese A.
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; Hannah, Michael G.; Bugiardini, Enrico; Kriouile, Yamna; El Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Karashova, Blagovesta Marinova; Di Rosa, Gabriella; Goraya, Jatinder S.; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Savasta, Salvatore; Ruiz, Alfons Macaya; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Compagnoni, Chiara; Piccirilli, Alessandra; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Papanicolaou, Eleni Zamba; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama; Lim, Shen-Yang; Shaikh, Farooq; Scardamaglia, Annarita; Koutsis, George; Mangano, Salvatore; Scuderi, Carmela; Morello, Giovanna; Zollo, Massimo; Heimer, Gali; Striano, Pasquale; Al-Khawaja, Issam; Al-Mutairi, Fuad; Alkuraya, Fowzan S.; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Tucci, Arianna; Fiorillo, Chiara; Rissotto, Federico; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Cuppari, Caterina; Romeo, Carmelo; Magrinelli, Francesca; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Zagaroli, Luca; Caloisi, Claudia; Fabiano, Cecilia; Bottone, Gabriella; Farello, Giovanni; Di Fabio, Sandra; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Zaki, Maha S.; Triki, Chahnez C.; Kara, Majdi; Belcastro, Vincenzo; Specchio, Nicola; Karimiani, Ehsan G.; Salih, Ahmed M.; Ramenghi, Luca A.; David, Emanuele; Curró, Riccardo; Iezzi, Maria Laura; Iapadre, Giulia; Nanni, Giuliana; Scorrano, Giovanna; Fiorile, Maria F.; Brancati, Francesco; Di Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elia, Maurizio; Terrone, Gaetano; Operto, Francesca F.; Valenzise, Mariella; Della Rocca, Ylenia; Zazzeroni, Francesca; Alesse, Edoardo; Manti, Filippo; Galosi, Serena; Nardecchia, Francesca; Leuzzi, Vincenzo; Pironti, Erica; Amore, Greta; Ceravolo, Giorgia; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Javed, Iram; Rahman, Fatima; Ahmed, Muhammad Mehboob; Parisi, Pasquale; Borgia, Paola; Mangano, Giuseppe D.; Chiarelli, Francesco; Genomics, Queen Square; Andrea, Accogli; Petree, Cassidy; Huang, Kevin; Monastiri, Kamel; Edizadeh, Masoud; Nardello, Rosaria; Ognibene, Marzia; De Marco, Patrizia; Ruggieri, Martino; Zara, Federico; 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 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 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, A; Dagan, E; Illi, B; Duquesnoy, P; Mordechai, S; Shahor, I; Romani, S; Hawash Moustafa, N; Mandel, H; Valente, Enza Maria; Amselem, S; Gershoni Baruch, R.
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 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 second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16 1-gen-2000 Valente, Enza Maria; Spacey, Sd; Wali, Gm; Bhatia, Kp; Dixon, Ph; Wood, Nw; Davis, Mb
A single human ciliopathy locus highlights the evolutionary dynamics of non-duplicated but adjacent genes. 1-gen-2012 Lee, Jh; Silhavy, Jl; Lee, Je; Al Gazali, L; Thomas, S; Davis, Ee; Bielas, Sl; Hill, Kj; Gabriel, Sb; Brancati, F; Iannicelli, M; Russ, C; Logan, Cv; Sharif, Sm; Bennett, Cp; Abe, M; Hildebrandt, F; Diplas, Bh; Attié Bitach, T; Katsanis, N; Rajab, A; Koul, R; Sztriha, L; Waters, E; Ferro Novick, S; Woods, Gc; Johnson, Ca; Valente, Enza Maria; Zaki, Ms; Gleeson, J. G.
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome 1-gen-1996 Padula, L; Lomonaco, M; Valente, Enza Maria; Tonali, Pa
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia 1-gen-2000 Munchau, A; Valente, Enza Maria; Davis, Mb; Stinton, V; Wood, Nw; Quinn, Np; Bhatia, Kp
Advances in the genetics of primary torsion dystonia 1-gen-2010 Valente, Enza Maria; Albanese, A.
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis 1-gen-2010 Louie, Cm; Caridi, G; Lopes, Vs; Brancati, F; Kispert, A; Lancaster, Ma; Schlossman, Am; Otto, Ea; Leitges, M; Groene H., J; Lopez, I; Gudiseva, Hv; O'Toole, Jf; Vallespin, E; Ayyagari, R; Ayuso, C; Cremers, Fpm; den Hollander, Ai; Koenekoop, Rk; Dallapiccola, B; Ghiggeri, Gm; Hildebrandt, F; Valente, Enza Maria; Williams, Ds; Gleeson, Jg
An SCN9A channelopathy causes congenital inability to experience pain 1-gen-2006 Cox, Jj; Reimann, F; Nicholas, Ak; Thornton, G; Roberts, E; Springell, K; Karbani, G; Jafri, H; Mannan, J; Raashid, Y; AL GAZALI, L; Hamamy, H; Valente, Enza Maria; Gorman, S; Williams, R; Mchale, Dp; Wood, Jn; Gribble, Fm; Woods, Cg
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
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm 1-gen-2007 Clarimon, J; Brancati, F; Peckham, E; Valente, Enza Maria; Dallapiccola, B; Abruzzese, G; Girlanda, Paolo; Defazio, G; Berardelli, A; Hallett, M; Singleton, Ab
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. 1-gen-2011 5., Ross OA; Soto Ortolaza, Ai; Heckman, Mg; Aasly, Jo; Abahuni, N; Annesi, G; Bacon, Ja; Bardien, S; Bozi, M; Brice, A; Brighina, L; Van Broeckhoven, C; Carr, J; Chartier Harlin, Mc; Dardiotis, E; Dickson, Dw; Diehl, Nn; Elbaz, A; Ferrarese, C; Ferraris, A; Fiske, B; Gibson, Jm; Gibson, R; Hadjigeorgiou, Gm; Hattori, N; Ioannidis, Jp; Jasinska Myga, B; Jeon, Bs; Kim, Yj; Klein, C; Kruger, R; Kyratzi, E; Lesage, S; Lin, Ch; Lynch, T; Maraganore, Dm; Mellick, Gd; Mutez, E; Nilsson, C; Opala, G; Park, Ss; Puschmann, A; Quattrone, A; Sharma, M; Silburn, Pa; Sohn, Yh; Stefanis, L; Tadic, V; Theuns, J; Tomiyama, H; Uitti, Rj; Valente, Enza Maria; van de Loo, S; Vassilatis, Dk; Vilariño Güell, C; White, Lr; Wirdefeldt, K; Wszolek, Zk; Wu, Rm; Farrer, Mj; GEO PD, Consortium
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia 1-gen-2006 Gambarin, M; Valente, Enza Maria; Liberini, P; Barrano, G; Bonizzato, A; Padovani, A; Moretto, G; Fiorio, M; Dallapiccola, B; Smania, N; Fiaschi, A; Tinazzi, M.