(Q34353584)

1 August 2017

1 reference

title

Ataxia and hereditary disorders (English)

1 reference

1 August 2017

Paulson H

1

1 reference

PubMed ID

11532653

1 August 2017

Ammache Z

series ordinal

2

1 reference

1 August 2017

1 August 2001

1 reference

1 August 2017

1 reference

1 August 2017

19

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1 August 2017

3

1 reference

1 August 2017

759-82, viii

1 reference

Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia

1 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: do the genes explain the diseases?

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Fourteen and counting: unraveling trinucleotide repeat diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Spinocerebellar ataxia type 8: clinical features in a large family.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Friedreich ataxia: an overview

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Calcium channels in neurological disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Progressive myoclonus epilepsy of Unverricht-Lundborg type

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Hereditary spastic paraparesis: a review of new developments.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Cockayne syndrome: Review of 140 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Molecular genetics and pathogenesis of Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Toward an understanding of polyglutamine neurodegeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Mitochondrial disorders: clinical and genetic features

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Clinical and MRI findings in spinocerebellar ataxia type 5

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

Glutamine repeats and neurodegeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970044-X

7 January 2021

10.1016/S0733-8619(05)70044-X

Identifiers

DOI

1 reference

1 August 2017

1 reference

PubMed ID

11532653