|1|Novel GCH-1 mutations and unusual long-lasting dyskinesias inA Korean families with dopa-responsive dystonia. (24018121)
Lee J.Y.... Jeon B.S.
|2|Prevalence and features of unreported dystonia in a family study of "pure" essential tremor. (23089243)
Louis E.D.... Clark L.N.
|3|GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. (23762320)
Cai C.... Li W.D.
|4|No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families. (23813719)
Ma L.... Wan X.
|5|A new familial syndrome with dystonia and lower limb action myoclonus. (21370267)
Groen J.... Tijssen M.
|6|Novel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystonia. (19566901)
Bardien S.... Carr J.
|7|Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. (20187889)
Dale R.C.... Earl J.
|8|The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases? (19380705)
BrA1ggemann N.... Klein C.
|9|Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family. (19506430)
Foncke E.M.... Tijssen M.
|10|Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. (17804835)
Wider C.... Vingerhoets F.J.
|11|A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome. (18581468)
Chen X.P.... Shang H.F.
|12|Genetic study of an American family with DYT3 dystonia (lubag). (18952144)
Deng H.... Jankovic J.
|13|Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. (18175340)
Raymond D.... Bressman S.
|14|Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. (17853490)
Nardocci N.... Garavaglia B.
|15|Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. (17562842)
Hagenah J.... Klein C.
|16|Can families be screened for cervical dystonia using a telephone interview? (16932515)
|17|Leber's hereditary optic neuropathy with dystonia in a Japanese family. (16380132)
Watanabe M.... Imamura S.
|18|A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome. (15710860)
Ezquerra M.... MartA- M.J.
|19|Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation. (15390021)
Uncini A.... Gambi D.
|20|Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13. (15390049)
Zaremba J.... Brashear A.
|21|Clinical presentation and progression of sporadic and familial primary torsion dystonia in Italy. (14509671)
Bentivoglio A.R.... Albanese A.
|22|Autosomal recessive, DYT2-like primary torsion dystonia: a new family. (15477576)
|23|Frequency of familial aggregation in primary adult-onset cranial cervical dystonia. (14598070)
Defazio G.... Martino D.
|24|Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. (12874409)
Han F.... Grimes D.A.
|25|Autosomal recessive, DYT2-like primary torsion dystonia: a new family. (14694054)
Khan N.L.... Bhatia K.P.
|26|Obsessive compulsive disorder among idiopathic focal dystonia patients: an epidemiological and family study. (12208643)
Cavallaro R.... Comi G.
|27|Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. (11921130)
Brancati F.... Dallapiccola B.
|28|A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene. (11405816)
Ujike H.... Kuroda S.
|29|A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia. (11359069)
Hong K.M.... Paik M.K.
|30|A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. (10766892)
MA1nchau A.... Bhatia K.P.
|31|A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. (11009204)
MA1nchau A.... Bhatia K.P.
|32|Italian family with cranial cervical dystonia: clinical and genetic study. (10495044)
Cassetta E.... Albanese A.
|33|The human family of deafness/dystonia peptide (DDP) related mitochondrial import proteins. (10552927)
Jin H.... Vetrie D.L.P.
|34|A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia. (10457396)
Markova E.D.... Ivanova-Smolenskaya I.A.
|35|Do the same genes predispose to Gilles de la Tourette syndrome and dystonia? Report of a new family and review of the literature. (10495045)
NAcmeth A.H.... Hyman N.M.
|36|The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. (10644435)
Ozelius L.J.... Breakefield X.O.
|37|A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form. (10208576)
Brique S.... Chartier-Harlin M.-C.
|38|Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. (9750930)
Brashear A.... Dobyns W.B.
|39|High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. (9585358)
Steinberger D.... MA1ller U.
|40|Familial cervical dystonia, head tremor, and scoliosis: a case report. (9750908)
|41|Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene. (9647318)
Nitschke M.... Vieregge P.
|42|A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia. (9120469)
Beyer K.... de la Fuent-Fernandez R.
|43|Progressive dystonia with optic atrophy in a Jewish-Iraqi family. (9335011)
Korn-Lubetzki I.... Steiner I.
|44|Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. (8894706)
Leube B.... Auburger G.
|45|A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. (8841189)
Jin H.... Vetrie D.
|46|A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. (8309575)
Bressman S.B.... Burke R.E.
|47|Familial essential tremor and idiopathic torsion dystonia are different genetic entities. (8232931)
DA1rr A.... Brice A.
|48|Adult onset familial cervical dystonia: report of a family including monozygotic twins. (8232359)
Uitti R.J.... Maraganore D.M.
|49|Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. (2296384)
Nygaard T.G.... Fahn S.
|50|A familial study in serum dopamine-beta-hydroxylase levels in torsion dystonia. (4858093)
Ebstein R.P.... Coleman M.