(Q34680311)

3 August 2017

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title

The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test (English)

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Kailash Phatechand Bhatia

3 August 2017

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series ordinal

3

object named as

Kailash P Bhatia

1 reference

3 August 2017

Susanne A Schneider

1

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3 August 2017

Ruth H Walker

series ordinal

2

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3 August 2017

publication date

1 September 2007

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Nature Clinical Practice Neurology

3 August 2017

published in

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3 August 2017

volume

3

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3 August 2017

issue

9

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3 August 2017

page(s)

517-525

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CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

Novel prion protein insert mutation associated with prolonged neurodegenerative illness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

Huntington's disease--like 2 can present as chorea-acanthocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy

21 January 2018

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https://api.crossref.org/works/10.1038%2FNCPNEURO0606

Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration

21 January 2018

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https://api.crossref.org/works/10.1038%2FNCPNEURO0606

Intergenerational instability and marked anticipation in SCA-17

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

The prevalence and patterns of care of Huntington's chorea in Grampian

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

The epidemiology of Huntington's disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Huntington disease phenocopy is a familial prion disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Prions and their partners in crime

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Hereditary Creutzfeldt-Jakob disease and fatal familial insomnia.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Yugoslav HD phenocopies analyzed on the presence of mutations in PrP, ferritin, and Jp-3 genes

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Huntington's Disease-like 2 (HDL2) in North America and Japan

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Huntington's disease like-2 neuropathology

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Neurologic phenotypes associated with acanthocytosis.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Interpretation of linkage data for a Huntington-like disorder mapping to 4p15.3.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Minimum prevalence of spinocerebellar ataxia 17 in the north east of England

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Basal ganglia involvement of a patient with SCA 17--a new form of autosomal dominant spinocerebellar ataxia

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17).

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Electrophysiologic characterization in spinocerebellar ataxia 17.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p 13.31 by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Maternal anticipation of DRPLA

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

1 reference

7 January 2021

Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Juvenile dentatorubral-pallidoluysian atrophy: new clinical features

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Dentatorubropallidoluysian atrophy in Chinese

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Neuroferritinopathy in a French family with late onset dominant dystonia

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Wilson disease: description of 282 patients evaluated over 3 decades

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Chorea-acanthocytosis: genetic linkage to chromosome 9q21

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Eye movements in chorea-acanthocytosis

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Severe tongue protrusion dystonia: clinical syndromes and possible treatment

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Chorea-acanthocytosis: report of a family and neuropathological study of two cases

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Neurodegeneration with brain iron accumulation: from genes to pathogenesis

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Late adult onset chorea with typical pathology of Hallervorden-Spatz syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

McLeod neuroacanthocytosis: genotype and phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0606

7 January 2021

Identifiers

DOI

10.1038/NCPNEURO0606

1 reference

Dimensions Publication ID

3 August 2017

1026511132

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1 reference