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Titolo Data di pubblicazione Autore(i) File
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene 1-gen-2002 Spacey, Sd; Valente, Enza Maria; Wali, Gm; Warner, Tt; Jarman, Pr; Schapira, Ahv; Dixon, Ph; Davis, Mb; Bhatia, Kp; Wood, Nw
Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: An F-18-dopa PET study 1-gen-2002 Khan, Nl; Valente, Enza Maria; Bentivoglio, Ar; Wood, Nw; Albanese, A; Brooks, Dj; Piccini, P.
PARK6-linked parkinsonism occurs in several European families 1-gen-2002 Valente, Enza Maria; Brancati, F; Ferraris, A; Graham, Ea; Davis, Mb; Breteler, Mmb; Gasser, T; Bonifati, V; Bentivoglio, Ar; DE MICHELE, G; Durr, A; Cortelli, P; Wassilowsky, D; Harhangi, Bs; Rawal, N; Caputo, V; Filla, A; Meco, G; Oostra, Ba; Brice, A; Albanese, A; Dallapiccola, B; Wood, Nw
PARK6 is a common cause of familial parkinsonism 1-gen-2002 Valente, Enza Maria; Brancati, F; Caputo, V; Graham, Ea; Davis, Mb; Ferraris, A; Breteler, Mmb; Gasser, T; Bonifati, V; Bentivoglio, Ar; DE MICHELE, G; Durr, A; Cortelli, P; Filla, A; Meco, G; Oostra, Ba; Brice, A; Albanese, A; Dallapiccola, B; Wood, Nw
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia 1-gen-2002 Brancati, F; Defazio, G; Caputo, V; Valente, Enza Maria; Pizzuti, A; Livrea, P; Berardelli, A; Dallapiccola, B.
Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia? 1-gen-2002 Bentivoglio, Ar; Loi, M; Valente, Enza Maria; Ialongo, T; Tonali, P; Albanese, A.
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 1-gen-2002 Valente, Enza Maria; Brancati, F; Caputo, V; Bertini, E; Patrono, C; Costanti, D; 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.
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
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene 1-gen-2003 Defazio, G; Brancati, F; Valente, Enza Maria; Caputo, V; Pizzuti, A; Martino, D; Abbruzzese, G; Livrea, P; Berardelli, A; Dallapiccola, B.
Infantile ascending hereditary spastic paralysis (IAHSP) - Clinical features in 11 families 1-gen-2003 Lesca, G; EYMARD PIERRE, E; Santorelli, Fm; Cusmai, R; DI CAPUA, M; Valente, Enza Maria; ATTIA SOBOL, J; Plauchu, H; Leuzzi, V; Ponzone, A; BOESPFLUG TANGUY, O; Bertini, E.
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia 1-gen-2003 Brancati, F; Valente, Enza Maria; Castori, M; Vanacore, N; Sessa, M; Galardi, G; Berardelli, A; Bentivoglio, Ar; Defazio, G; Girlanda, Paolo; Abbruzzese, G; Albanese, A; Dallapiccola, B.
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A 1-gen-2003 Brancati, F; Valente, Enza Maria; Davies, Np; Sarkozy, A; Sweeney, Mg; Lomonaco, M; Pizzuti, A; Hanna, Mg; Dallapiccola, B.
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
PINK1 mutations are associated with sporadic early-onset parkinsonism 1-gen-2004 Valente, Enza Maria; Salvi, S; Ialongo, T; Marongiu, R; Elia, Ae; Caputo, V; Romito, L; Albanese, A; Dallapiccola, B; Bentivoglio, Ar
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
Hereditary early-onset Parkinson's disease caused by mutations in PINK1 1-gen-2004 Valente, Enza Maria; ABOU SLEIMAN, Pm; Caputo, V; Muqit, Mmk; Harvey, K; Gispert, S; Ali, Z; DEL TURCO, D; Bentivoglio, Ar; Healy, Dg; Albanese, A; Nussbaum, R; GONZALEZ MALDONALDO, R; Deller, T; Salvi, S; Cortelli, P; Gilks, Wp; Latchman, Ds; Harvey, Rj; Dallapiccola, B; Auburger, G; Wood, Nw
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.
Phenotypic characterization of DYT13 primary torsion dystonia 1-gen-2004 Bentivoglio, Ar; Ialongo, T; Contarino, Mf; Valente, Enza Maria; Albanese, A.
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.
Mostrati risultati da 21 a 40 di 123
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