IRIS

Sfoglia per Autore  

Opzioni
Mostrati risultati da 21 a 40 di 362
Titolo Data di pubblicazione Autore(i) File
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial cervical or upper limb onset 1-gen-2001 Valente, ENZA MARIA; Bentivoglio, Ar; Cassetta, E; Dixon, Ph; Davis, Mb; Ferraris, A; Ialongo, T; Frontali, M; Wood, Nw; Albanese, A.
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset 1-gen-2001 Valente, ENZA MARIA; Bentivoglio, Ar; Cassetta, E; Dixon, Ph; Davis, Mb; Ferraris, A; Ialongo, T; Frontali, M; Wood, Nw; Albanese, A.
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 1-gen-2001 Valente, ENZA MARIA; Bentivoglio, Ar; Dixon, Ph; Ferraris, A; Ialongo, T; Frontali, M; Albanese, A; Wood, Nw
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families 1-gen-2001 Bentivoglio, Ar; Cortelli, P; Valente, ENZA MARIA; Ialongo, T; Ferraris, A; Elia, A; Montagna, P; Albanese, A.
The sodium channel syndromes: Expanding the phenotype associated with SCN4A mutations 1-gen-2002 Davies, Np; Sutton, I; Winer, Jb; Moorcroft, P; Hall, Hs; Cole, T; Davies, Mb; Valente, ENZA MARIA; Brancati, F; Hammons, Sr; Hanna, Mg
Clinical and subclinical dopaminergic dysfunction in autosomal recessive 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.
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.
Refined SPG11 locus in autosomal recessive hereditary spastic paraplegia with thin corpus callosum 1-gen-2002 Montagna, G; Valente, ENZA MARIA; Bertini, E; Brancati, F; Santorelli, Fm; Dallapiccola, B; Casali, C.
Spectrum of mutations in the gene for epsilon-sarcoglycan (SGCE) in myoclonus-dystonia syndrome (MDS, DYT11) 1-gen-2002 Asmus, F; Zimprich, A; Tezenas, S; Bandmann, O; Kupsch, A; Kabus, C; Ziemann, U; Schoels, L; Deuschl, G; Valente, ENZA MARIA; Durr, A; Wood, N; Brice, A; Gasser, T.
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
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.
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.
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus dystonia: Evidence for genetic heterogeneity 1-gen-2002 Valente, ENZA MARIA; Misbahuddin, A; Brancati, F; Placzek, Mr; Dallapiccola, B; Warner, Tt
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
The genetic basis and phenotypic variability in early onset parkinsonism 1-gen-2002 Khan, N; Valente, ENZA MARIA; Brooks, Dj; Piccini, P; Bhatia, Kp; Quinn, Np; Wood, Nw
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 1-gen-2002 Casali, C; Valente, ENZA MARIA; Bertini, E; Montagna, G; Criscuolo, C; De Michele, G; Damiano, M; Pierallini, A; Brancati, F; Sarano, V; Rossi, A; Tessa, A; Cricchi, F; Muglia, M; Carella, M; Amabile, Ga; Nappi, G; Filla, A; Dallapiccola, B; Santorelli, Fm
Genetic susceptibility in cervical dystonia: confirmation of a role for the dopamine D5 receptor gene 1-gen-2002 Valente, ENZA MARIA; Brancati, F; Vanacore, N; Galardi, G; 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.
Genetic susceptibility in cervical dystonia: Confirmation of a role for the dopamine D5 receptor gene 1-gen-2002 Brancati, F; Valente, ENZA MARIA; Castori, M; Vanacore, N; Salvi, S; Caputo, V; Dallapiccola, B.
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
Mostrati risultati da 21 a 40 di 362
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