|1|Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. (24202787)
Doss S.... Klein C.
|2|Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (24297365)
Haugarvoll K.... Bindoff L.A.
|3|Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia. (22775298)
Karkheiran S.... PaisA!n-Ruiz C.
|4|Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort. (23523105)
Rubio-Agusti I.... Bhatia K.P.
|5|Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion. (22821615)
Miyamoto R.... Kaji R.
|6|New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. (22534615)
Barbano R.L.... Brashear A.
|7|A new mutation of GCH1 in triplets family with dopa-responsive dystonia. (21834904)
Tachi N.... Shinoda M.
|8|Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family. (21412843)
Zirn B.... MA1ller U.
|9|Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis. (21425342)
Dale R.C.... Peters G.B.
|10|Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia. (21674621)
Sharma N.... Sims K.B.
|11|A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome. (21267590)
Hartmann C.J.... SA1dmeyer M.
|12|Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion. (20925076)
de Carvalho Aguiar P.... Ozelius L.
|13|Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. (18571946)
Gerrits M.C.... Tijssen M.A.
|14|Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. (18175354)
Schneider S.A.... Bhatia K.P.
|15|Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation. (18823049)
Kim M.J.... Chung S.J.
|16|Clinical and genetic characterization of a large Dutch family with primary focal dystonia. (18823044)
Contarino M.F.... Tijssen M.A.
|17|Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family. (18752196)
Souza C.P.... Godard A.L.
|18|DYT16: a new twist to familial dystonia. (18243800)
|19|Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. (17702041)
Orth M.... MA1nchau A.
|20|Onset and progression of primary torsion dystonia in sporadic and familial cases. (16987160)
Elia A.E.... Albanese A.
|21|Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation. (16817193)
Tojo K.... Ikeda S.
|22|Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. (16874761)
Gambarin M.... Tinazzi M.
|23|Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. (17130408)
Le Ber I.... DA1rr A.
|24|Familial dopa-responsive cervical dystonia. (16505323)
Schneider S.A.... Bhatia K.P.
|25|Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. (17101905)
Foncke E.M.... Tijssen M.A.
|26|A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome. (16411215)
Aguirre L.A.... Moreno F.
|27|Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. (15726411)
Wohlrab G.... Boltshauser E.
|28|Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family. (15897512)
Kabakci K.... Klein C.
|29|Genetic heterogeneity in ten families with myoclonus-dystonia. (15258227)
Schule B.... Kostic V.
|30|Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy. (14978686)
Brown M.D.... Korn-Lubetzki I.
|31|Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. (14502674)
Valente E.M.... Warner T.T.
JimAcnez-JimAcnez F.... Hoenicka J.
|33|Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia. (12473771)
Klein C.... Demir E.
|34|Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture? (12023430)
Grimes D.A.... Lang A.E.
|35|Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the Tor1A (DYT1) gene. (12481989)
Ikeuchi T.... Tsuji S.
|36|Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. (11487218)
Valente E.M.... Albanese A.
|37|Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase I gene. (10851395)
Furukawa Y.... Lang A.E.
|38|A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. (11022010)
Klein C.... Tagliati M.
|39|Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family. (9399227)
Leube B.... Benecke R.
|40|Familial dystonia and choreoathetosis in three generations associated with bilateral striatal necrosis. (8734018)
Craver R.D.... Nelson J.S.
|41|Dopa-responsive dystonia: clinical and family study in Taiwanese. (8681479)
Chen R.S.... Lu C.S.
|42|Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. (8644732)
de Vries D.D.... van Oost B.A.
|43|Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family. (7629534)
Holmgren G.... Breakefield X.O.
|44|The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q. (8004804)
WahlstrAPm J.... Fahn S.
|45|Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. (1449240)
Nygaard T.G.... Calne D.B.
|46|Autosomal dominant torsion dystonia in a Swedish family. (3400518)
Forsgren L.... Drugge U.
|47|Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. (4448193)
Caraceni T.... Avanzini G.
|48|'Pugnatron'-like reaction in a patient with familial dystonia: torque induced motion analysis. (4836750)
|49|Familial dystonia musculorum deformans and tremor. (5037440)
Yanagisawa N.... Narabayashi H.
|50|Dystonia musculorum deformans with another case in the same family. (20344681)