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Phenotypic characterization of DYT13 primary torsion dystonia. 1-gen-2004 Bentivoglio, Ar; Ialongo, T; Contarino, Mf; Valente, Enza Maria; Albanese, A.
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. 1-gen-2004 Valente, Enza Maria; Abou Sleiman, Pm; Caputo, V; Muqit, Mm; Harvey, K; Gispert, S; Ali, Z; Del Turco, D; Bentivoglio, Ar; Healy, Dg; Albanese, A; Nussbaum, R; Gonzalez Maldonado, R; Deller, T; Salvi, S; Cortelli, P; Gilks, Wp; Latchman, Ds; Harvey, Rj; Dallapiccola, B; Auburger, G; Wood, Nw
Opioid binding in DYT1 primary torsion dystonia: An C-11-diprenorphine PET Study. 1-gen-2004 Whone, Al; Von Spiczak, S; Edwards, M; Valente, Enza Maria; Hammers, A; Bhatia, Kp; Brooks, Dj
DJ-1 mutations in Parkinson's disease. 1-gen-2004 Healy, Dg; Abou Sleiman, Pm; Valente, Enza Maria; Gilks, Wp; Bhatia, K; Quinn, N; Lees, Aj; Wood, Nw
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 1-gen-2005 Valente, Enza Maria; Marsh, Se; 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
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. 1-gen-2005 Albanese, A; Valente, Enza Maria; Romito, Lm; Bellacchio, E; Elia, Ae; Dallapiccola, B.
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. 1-gen-2005 Castelnau, P; Cif, L; Valente, Enza Maria; Vayssiere, N; Hemm, S; Gannau, A; Digiorgio, A; Coubes, P.
The epsilon-sarcoglycan gene in myoclonic syndromes 1-gen-2005 Valente, Enza Maria; Edwards, Mj; Mir, P; Digiorgio, A; Salvi, S; Davis, M; Russo, N; Bozi, M; Kim, Ht; Pennisi, G; Quinn, N; Dallapiccola, B; Bhatia, Kp
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. 1-gen-2005 Silvestri, L; Caputo, V; Bellacchio, E; Atorino, L; Dallapiccola, B; Valente, Enza Maria; Casari, G.
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.
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration 1-gen-2005 Pellecchia, MARIA TERESA; Valente, E. M.; Cif, L.; Salvi, S.; Albanese, A.; Scarano, V.; Bonuccelli, U.; Bentivoglio, A. R.; D'Amico, A.; Marelli, C.; Di Giorgio, A.; Coubes, P.; Barone, Paolo; Dallapiccola, B.
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. 1-gen-2005 Castori, M; Valente, Enza Maria; Donati, Ma; Salvi, S; Fazzi, E; Procopio, E; Galluccio, T; Emma, F; Dallapiccola, B; Bertini, E; Italian MTS Study, Group
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. 1-gen-2005 Pedrini, E; De Luca, A; Valente, Enza Maria; Maini, V; Capponcelli, S; Mordenti, M; Mingarelli, R; Sangiorgi, L; Dallapiccola, B.
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease. 1-gen-2006 Marongiu, R; Ghezzi, D; Ialongo, T; Soleti, F; Elia, A; Cavone, S; Albanese, A; Altavista, Mc; Barone, Paolo; Brusa, L; Cortelli, P; Petrozzi, L; Scaglione, C; Stanzione, P; Tinazzi, M; Zeviani, M; Dallapiccola, B; Bentivoglio, Ar; Valente, Enza Maria; Garavaglia, B.
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.
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 1-gen-2006 Valente, Enza Maria; Silhavy, Jl; Brancati, F; Barrano, G; Krishnaswami, Sr; Castori, M; Lancaster, Ma; Boltshauser, E; Boccone, L; Al Gazali, L; Fazzi, E; Signorini, S; Louie, Cm; Bellacchio, E; Related Disorders Study Group, Ij; Bertini, E; Dallapiccola, B; 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
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism 1-gen-2006 Criscuolo, C; Volpe, G; De Rosa, A; Varrone, A; Marongiu, R; Mancini, P; Salvatore, E; Dallapiccola, B; Filla, A; Valente, Enza Maria; De Michele, G.
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. 1-gen-2006 Stevanin, G; Montagna, G; Azzedine, H; Valente, Enza Maria; Durr, A; Scarano, V; Bouslam, N; Cassandrini, D; Denora, Ps; Criscuolo, C; Belarbi, S; Orlacchio, A; Jonveaux, P; Silvestri, G; Hernandez, Am; De Michele, G; Tazir, M; Mariotti, C; Brockmann, K; Malandrini, A; van der Knapp, Ms; Neri, M; Tonekaboni, H; Melone, Ma; Tessa, A; Dotti, Mt; Tosetti, M; Pauri, F; Federico, A; Casali, C; Cruz, Vt; Loureiro, Jl; Zara, F; Forlani, S; Bertini, E; Coutinho, P; Filla, A; Brice, A; Santorelli, Fm
Mostrati risultati da 41 a 60 di 167
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