VALENTE, Enza Maria

VALENTE, Enza Maria  

Dipartimento di Scienze chimiche, biologiche, farmaceutiche e ambientali  

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Titolo Data di pubblicazione Autore(i) File
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 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.
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.