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Results: 1-13 |
Results: 13
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset
Authors: Valente, EM Bentivoglio, AR Cassetta, E Dixon, PH Davis, MB Ferraris, A Ialongo, T Frontali, M Wood, NW Albanese, A
Citation: Em. Valente et al., Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset, NEUROL SCI, 22(1), 2001, pp. 95-96
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families
Authors: Bentivoglio, AR Cortelli, P Valente, EM Ialongo, T Ferraris, A Elia, A Montagna, P Albanese, A
Citation: Ar. Bentivoglio et al., Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families, MOVEMENT D, 16(6), 2001, pp. 999-1006
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
Authors: Valente, EM Bentivoglio, AR Cassetta, E Dixon, PH Davis, MB Ferraris, A Ialongo, T Frontali, M Wood, NW Albanese, A
Citation: Em. Valente et al., 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, ANN NEUROL, 49(3), 2001, pp. 362-366
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36
Authors: Valente, EM Bentivoglio, AR Dixon, PH Ferraris, A Ialongo, T Frontali, M Albanese, A Wood, NW
Citation: Em. Valente et al., Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36, AM J HU GEN, 68(4), 2001, pp. 895-900
Paroxysmal movement disorders as channelopathies
Authors: Bhatia, KP Valente, EM
Citation: Kp. Bhatia et Em. Valente, Paroxysmal movement disorders as channelopathies, CHANNELOPATHIES OF THE NERVOUS SYSTEM, 2001, pp. 250-258
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia
Authors: Munchau, A Valente, EM Davis, MB Stinton, V Wood, NW Quinn, NP Bhatia, KP
Citation: A. Munchau et al., A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia, MOVEMENT D, 15(5), 2000, pp. 954-959
Phenotype variability of dystonia in monozygotic twins
Authors: Albanese, A Bentivoglio, AR Del Grosso, N Cassetta, E Frontali, M Valente, EM Tonali, P
Citation: A. Albanese et al., Phenotype variability of dystonia in monozygotic twins, J NEUROL, 247(2), 2000, pp. 148-150
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study
Authors: Munchau, A Valente, EM Shahidi, GA Eunson, LH Hanna, RG Quinn, NP Schapira, AHV Wood, NW Bhatia, KP
Citation: A. Munchau et al., A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study, J NE NE PSY, 68(5), 2000, pp. 609-614
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16
Authors: Valente, EM Spacey, SD Wali, GM Bhatia, KP Dixon, PH Wood, NW Davis, MB
Citation: Em. Valente et al., A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16, BRAIN, 123, 2000, pp. 2040-2045
Italian family with cranial cervical dystonia: Clinical and genetic study
Authors: Cassetta, E Del Grosso, N Bentivoglio, AR Valente, EM Frontali, M Albanese, A
Citation: E. Cassetta et al., Italian family with cranial cervical dystonia: Clinical and genetic study, MOVEMENT D, 14(5), 1999, pp. 820-825
Primary torsion dystonia: the search for genes is not over
Authors: Jarman, PR del Grosso, N Valente, EM Leube, B Cassetta, E Bentivoglio, AR Waddy, HM Uitti, RJ Maraganore, DM Albanese, A Frontali, M Auburger, G Bressman, SB Wood, NW Nygaard, TG
Citation: Pr. Jarman et al., Primary torsion dystonia: the search for genes is not over, J NE NE PSY, 67(3), 1999, pp. 395-397
Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations
Authors: Valente, EM Povey, S Warner, TT Wood, NW Davis, MB
Citation: Em. Valente et al., Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations, ANN HUM GEN, 63, 1999, pp. 1-8
The role of DYT1 in primary torsion dystonia in Europe
Authors: Valente, EM Warner, TT Jarman, PR Mathen, D Fletcher, NA Marsden, CD Bhatia, KP Wood, NW
Citation: Em. Valente et al., The role of DYT1 in primary torsion dystonia in Europe, BRAIN, 121, 1998, pp. 2335-2339
Risultati: 1-13 |