Literature DB >> 9598727

The dystonias.

P R Jarman1, T T Warner.   

Abstract

Entities:  

Mesh：

Year:  1998        PMID： 9598727      PMCID： PMC1051281          DOI： 10.1136/jmg.35.4.314

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  48 in total

1.  A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.

Authors:  G T Fouad; S Servidei; S Durcan; E Bertini; L J Ptácek
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

2.  Genetic heterogeneity in Leigh syndrome.

Authors:  S DiMauro; D C De Vivo
Journal:  Ann Neurol       Date:  1996-07       Impact factor: 10.422

3.  Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.

Authors:  J K Fink; S Rainer; J Wilkowski; S M Jones; A Kume; P Hedera; R Albin; J Mathay; L Girbach; T Varvil; B Otterud; M Leppert
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

4.  Exclusion of the DYT1 locus in familial torticollis.

Authors:  S B Bressman; T T Warner; L Almasy; R J Uitti; P E Greene; G A Heiman; D Raymond; B Ford; D de Leon; S Fahn; P L Kramer; N J Risch; D M Maraganore; T G Nygaard; A E Harding
Journal:  Ann Neurol       Date:  1996-10       Impact factor: 10.422

5.  Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution.

Authors:  B Leube; D Rudnicki; T Ratzlaff; K R Kessler; R Benecke; G Auburger
Journal:  Hum Mol Genet       Date:  1996-10       Impact factor: 6.150

6.  Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13.

Authors:  T D Taylor; M Litt; P Kramer; M Pandolfo; L Angelini; N Nardocci; S Davis; M Pineda; H Hattori; P J Flett; M R Cilio; E Bertini; S J Hayflick
Journal:  Nat Genet       Date:  1996-12       Impact factor: 38.330

7.  Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.

Authors:  P M Knappskog; T Flatmark; J Mallet; B Lüdecke; K Bartholomé
Journal:  Hum Mol Genet       Date:  1995-07       Impact factor: 6.150

8.  Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.

Authors:  T Gasser; C M Bove; L J Ozelius; M Hallett; M E Charness; F H Hochberg; X O Breakefield
Journal:  Mov Disord       Date:  1996-03       Impact factor: 10.338

9.  Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

Authors:  T M Narcisi; C C Shoulders; S A Chester; J Read; D J Brett; G B Harrison; T T Grantham; M F Fox; S Povey; T W de Bruin
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

10.  GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.

Authors:  Y Furukawa; M Shimadzu; A H Rajput; Y Shimizu; T Tagawa; H Mori; M Yokochi; H Narabayashi; O Hornykiewicz; Y Mizuno; S J Kish
Journal:  Ann Neurol       Date:  1996-05       Impact factor: 10.422
View more
  1 in total

1.  Another dystonia.

Authors:  M W Partington
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.