Huntington's disease phenocopies are clinically and genetically heterogeneous (Q45288426)

11 December 2017

Huntington's disease phenocopies are clinically and genetically heterogeneous (English)

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11 December 2017

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9

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Kailash Phatechand Bhatia

11 December 2017

Martin N Rossor

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object named as

Kailash P Bhatia

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Mary G Sweeney

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11 December 2017

Ese E Mudanohwo

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Susanne A Schneider

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11 December 2017

Jon Beck

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11 December 2017

Mary B Davis

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language of work or name

English

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publication date

1 April 2008

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11 December 2017

716-720

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

11 December 2017

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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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Huntington disease phenocopy is a familial prion disease

21 January 2018

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

21 January 2018

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

21 January 2018

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Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

21 January 2018

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

21 January 2018

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

21 January 2018

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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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

21 January 2018

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Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus.

21 January 2018

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Late appearance of acanthocytes during the course of chorea-acanthocytosis.

21 January 2018

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Benign hereditary chorea: clinical, genetic, and pathological findings

21 January 2018

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

21 January 2018

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Cloning of a transcriptionally active human TATA binding factor

21 January 2018

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Transcriptional dysregulation in Huntington's disease

21 January 2018

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Cerebellar atrophy in Huntington's disease

21 January 2018

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Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity.

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MDS.21915

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11 December 2017

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