(Q35041284)

6 August 2017

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title

State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis (English)

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6 August 2017

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5

Thomas Klockgether

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6 August 2017

Richard H Myers

6

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Thomas Gasser

series ordinal

1

object named as

Thomas Gasser

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6 August 2017

2

Susan Bressman

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6 August 2017

Alexandra Dürr

3

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6 August 2017

Joseph Higgins

series ordinal

4

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6 August 2017

language of work or name

English

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publication date

1 January 2003

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6 August 2017

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6 August 2017

volume

18

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6 August 2017

issue

1

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6 August 2017

page(s)

3-18

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

6 August 2017

cites work

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Ethical issues in DNA testing

21 January 2018

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De novo expansion of a (CAG)n repeat in sporadic Huntington's disease

21 January 2018

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A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats

21 January 2018

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Alpha-synuclein in Lewy bodies

21 January 2018

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Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

21 January 2018

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Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease

21 January 2018

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

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Association between early-onset Parkinson's disease and mutations in the parkin gene

21 January 2018

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A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease

21 January 2018

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A susceptibility locus for Parkinson's disease maps to chromosome 2p13.

21 January 2018

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A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1.

21 January 2018

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Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36

21 January 2018

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Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.

21 January 2018

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Association of an extended haplotype in the tau gene with progressive supranuclear palsy

21 January 2018

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Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

21 January 2018

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Phenotypic correlations in FTDP-17.

21 January 2018

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Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 January 2018

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Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

21 January 2018

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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

21 January 2018

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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

21 January 2018

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ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

21 January 2018

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Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

21 January 2018

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Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

21 January 2018

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Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

21 January 2018

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Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.

21 January 2018

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Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features

21 January 2018

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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

21 January 2018

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Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

21 January 2018

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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

21 January 2018

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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

21 January 2018

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Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

21 January 2018

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Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

21 January 2018

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Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brain

21 January 2018

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Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

21 January 2018

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An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

21 January 2018

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Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

21 January 2018

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Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

21 January 2018

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Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

21 January 2018

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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

21 January 2018

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21 January 2018

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The Wilson disease gene: spectrum of mutations and their consequences

21 January 2018

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Glucose metabolism in the brain of patients with essential tremor

21 January 2018

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Validity of family history data on essential tremor

21 January 2018

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Mapping of a familial essential tremor gene, FET1, to chromosome 3q13

21 January 2018

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

21 January 2018

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A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation.

21 January 2018

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The role of DYT1 in primary torsion dystonia in Europe

21 January 2018

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DYT1 mutation in French families with idiopathic torsion dystonia

21 January 2018

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GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany

21 January 2018

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A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.

21 January 2018

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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

21 January 2018

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A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

21 January 2018

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Association of a missense change in the D2 dopamine receptor with myoclonus dystonia

21 January 2018

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Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

21 January 2018

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Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families

21 January 2018

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Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

21 January 2018

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Evidence for locus heterogeneity in autosomal dominant torsion dystonia

21 January 2018

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Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

21 January 2018

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Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

21 January 2018

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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

21 January 2018

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A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

21 January 2018

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Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein

21 January 2018

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The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis

21 January 2018

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A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor

21 January 2018

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The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

21 January 2018

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A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

21 January 2018

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Genetic background of apparently idiopathic sporadic cerebellar ataxia

21 January 2018

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A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia

21 January 2018

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

21 January 2018

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A single ataxia telangiectasia gene with a product similar to PI-3 kinase

21 January 2018

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24 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1126/SCIENCE.7792600

Identifiers

DOI

10.1002/MDS.10338

1 reference

release_ltkzhbj3zrg6zkkeaq7hujvn2i

6 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/ltkzhbj3zrg6zkkeaq7hujvn2i

mapped directly with Wikidata item

24 November 2022

based on heuristic

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