(Q34438326)

2 August 2017

title

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein (English)

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11

Fahn S

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Gusella JF

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Xandra O. Breakefield

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object named as

Breakefield XO

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Bressman SB

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Ozelius LJ

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Hewett JW

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Page CE

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Kramer PL

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Shalish C

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de Leon D

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Brin MF

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Raymond D

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Corey DP

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Risch NJ

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Buckler AJ

13

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language of work or name

English

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publication date

1 September 1997

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volume

17

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issue

1

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page(s)

40-48

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Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

2 August 2017

cites work

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Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

21 January 2018

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HSP100/Clp proteins: a common mechanism explains diverse functions

21 January 2018

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Expression of a putative ATPase suppresses the growth defect of a yeast potassium transport mutant: identification of a mammalian member of the Clp/HSP104 family.

21 January 2018

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The role of charged amino acids in the localization of secreted and membrane proteins

21 January 2018

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Trinucleotide repeats in neurogenetic disorders

21 January 2018

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The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.

21 January 2018

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Quantitative autoradiography reveals regionally selective changes in dopamine D1 and D2 receptor binding in the genetically dystonic hamster.

21 January 2018

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Ventricular fluid homovanillic acid and 5-hydroxyindoleacetic acid concentrations in patients with movement disorders

21 January 2018

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A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.

21 January 2018

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Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

21 January 2018

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Construction of human chromosome-specific DNA libraries from flow-sorted chromosomes

21 January 2018

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Tolcapone: COMT inhibition for the treatment of Parkinson's disease

21 January 2018

1 reference

7 January 2021

Epidemiology of focal and generalized dystonia in Rochester, Minnesota

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7 January 2021

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

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7 January 2021

Spread of symptoms in idiopathic torsion dystonia

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7 January 2021

Torsion dystonia in Israel

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7 January 2021

The torsion dystonias: Literature review and genetic and clinical studies

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7 January 2021

Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance

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7 January 2021

Human gene for torsion dystonia located on chromosome 9q32-q34.

1 reference

7 January 2021

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34

1 reference

7 January 2021

Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium

1 reference

7 January 2021

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

1 reference

7 January 2021

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer

1 reference

7 January 2021

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

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7 January 2021

HSP100/Clp proteins: a common mechanism explains diverse functions

1 reference

7 January 2021

The function of heat-shock proteins in stress tolerance: degradation and reactivation of damaged proteins

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7 January 2021

1 reference

7 January 2021

A 200‐amino acid ATPase module in search of a basic function

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7 January 2021

Identification and characterization of HsIV HsIU (ClpQ ClpY) proteins involved in overall proteolysis of misfolded proteins in Escherichia coli.

1 reference

7 January 2021

Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect

1 reference

7 January 2021

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families

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7 January 2021

Linkage mapping of dopa–responsive dystonia (DRD) to chromosome 14q

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Genetic mapping of "Lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome

1 reference

7 January 2021

Delineation of the dystonia-parkinsonism syndrome locus in Xq13

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7 January 2021

Selective elimination of cerebellar output in the genetically dystonic rat

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7 January 2021

Alterations in the brain GABAA/benzodiazepine receptor-chloride ionophore complex in a genetic model of paroxysmal dystonia: a quantitative autoradiographic analysis

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7 January 2021

Regionally selective and age-dependent alterations in benzodiazepine receptor binding in the genetically dystonic hamster

1 reference

7 January 2021

The pathological anatomy of posthemiplegic athetosis

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7 January 2021

The behavioural and motor consequences of focal lesions of the basal ganglia in man.

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7 January 2021

Unilateral blepharospasm stemming from a thalamomesencephalic lesion

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7 January 2021

Severe motility disturbance after small doses of prochlorperazine

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7 January 2021

Tardive dystonia: Late-onset and persistent dystonia caused by antipsychotic drugs

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7 January 2021

Variable phenotype of rapid-onset dystonia-parkinsonism

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7 January 2021

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

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7 January 2021

Precise localization of human beta-globin gene complex on chromosome 11

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7 January 2021

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

7 January 2021

Enzymatic amplification of platelet-specific messenger RNA using the polymerase chain reaction

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7 January 2021

Construction of gene libraries for each human chromosome

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7 January 2021

Construction and characterization of a YAC library with a low frequency of chimeric clones from flow-sorted human chromosome 9.

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7 January 2021

A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig

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7 January 2021

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

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7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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7 January 2021

How sensitive is PCR-SSCP?

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7 January 2021

Identifiers

DOI

10.1038/NG0997-40

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2 August 2017

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