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Titolo Data di pubblicazione Autore(i) File
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, P; Abbruzzese, G; Albanese, A; 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.
Update on the genetics of dystonia 1-gen-2003 Valente, ENZA MARIA
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.
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.
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation 1-gen-2003 Valente, ENZA MARIA; Salpietro, Dc; Brancati, F; Bertini, E; Galluccio, T; Tortorella, G; Briuglia, S; Dallapiccola, B.
Clinical genetics of primary blepharospasm 1-gen-2004 Aniello, Ms; Martino, D; Masi, G; Valente, ENZA MARIA; Berardelli, A; Defazio, G.
PARK6 linked Parkinson's disease is caused by mutations in a mitochondrial protein kinase 1-gen-2004 Valente, ENZA MARIA; Abou Sleiman, Pm; Caputo, V; Muqit, Mmk; Gispert, S; Ali, Z; Del Turco, D; Wingerter, O; Bentivoglio, Ar; Healy, Dg; Albanese, A; Nussbaum, R; Gonzalez Maldonado, R; Deller, T; Mulsch, A; Bratzke, H; Salvi, S; Cortelli, P; Gilks, Wp; Latchman, D; Harvey, R; Dallapiccola, B; Auburger, G; Wood, Nw
Update on dystonia 1-gen-2004 Valente, ENZA MARIA
Investigating the SGCE gene in myoclonic syndromes: Guidelines for diagnostic testing 1-gen-2004 Edwards, Mj; Valente, ENZA MARIA; Mir, P; Di Giorgio, A; Salvi, S; Russo, N; Bozi, M; Pennisi, G; Dallapiccola, B; Bhatia, Kp
Clinical genetics of primary blepharospasm 1-gen-2004 Martino, D.; Aniello, M. S.; Masi, G.; Valente, ENZA MARIA; Livrea, P.; Berardelli, A.; Defazio, G.
Deep brain stimulation in Myoclonus-dystonia syndrome 1-gen-2004 Cif, L; Valente, ENZA MARIA; Hemm, S; Coubes, C; Vayssiere, N; Serrat, S; Di Giorgio, A; Coubes, P.
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.
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
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
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 1-gen-2004 Casali, C; Valente, ENZA MARIA; Bertini, E; Montagna, G; Criscuolo, C; De Michele, G; Villanova, M; Damiano, M; Pierallini, A; Brancati, F; Scarano, V; Tessa, A; Cricchi, F; Grieco, Gs; Muglia, M; Carella, M; Martini, Barbara; Rossi, A; Amabile, Ga; Nappi, Giuseppe; Filla, A; Dallapiccola, B; Santorelli, Fm
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.
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