UniSa - IRIS Institutional Research Information System

Sfoglia per Autore  

Opzioni
Mostrati risultati da 21 a 40 di 168
Titolo Data di pubblicazione Autore(i) File
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, Mm; Gasser, T; Bonifati, V; Bentivoglio, Ar; De Michele, G; Dürr, A; Cortelli, P; Filla, A; Meco, G; Oostra, Ba; Brice, A; Albanese, A; Dallapiccola, B; Wood, Nw; European Consortium on Genetic Susceptibility in Parkinson's, Disease
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.
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.
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, Ah; Dixon, Ph; Davis, Mb; Bhatia, Kp; Wood, Nw
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.
PARK6-linked parkinsonism occurs in several European families. 1-gen-2002 Valente, Enza Maria; Brancati, F; Ferraris, A; Graham, Ea; Davis, Mb; Breteler, Mm; 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; European Consortium on Genetic Susceptibility in Parkinson's, Disease
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.
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.
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
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, P; Abbruzzese, G; Albanese, A; Dallapiccola, B; Italian Movement Disorder Study, Group
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.
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.
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
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.
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.
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, B; Rossi, A; Amabile, Ga; Nappi, G; Filla, A; Dallapiccola, B; Santorelli, Fm
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
Mostrati risultati da 21 a 40 di 168
Legenda icone

  •  file ad accesso aperto
  •  file disponibili sulla rete interna
  •  file disponibili agli utenti autorizzati
  •  file disponibili solo agli amministratori
  •  file sotto embargo
  •  nessun file disponibile