(Q34997868)

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Genetic ataxia

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scholarly article

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Europe PubMed Central

PubMed publication ID

5 August 2017

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Europe PubMed Central

Genetic ataxia (English)

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Europe PubMed Central

PubMed publication ID

5 August 2017

author name string

Alberto L Rosa

1

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Europe PubMed Central

PubMed publication ID

5 August 2017

Tetsuo Ashizawa

2

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Europe PubMed Central

PubMed publication ID

5 August 2017

publication date

1 August 2002

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Europe PubMed Central

PubMed publication ID

5 August 2017

Neurologic Clinics

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Europe PubMed Central

PubMed publication ID

5 August 2017

20

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Europe PubMed Central

PubMed publication ID

5 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

727-57, vii

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

AN ATTEMPT TO CLASSIFY CEREBELLAR DISEASE, WITH A NOTE ON MARIE'S HEREDITARY CEREBELLAR ATAXIA

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic aspects of autosomal dominant late onset cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary ataxias

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The molecular biology of the autosomal-dominant cerebellar ataxias

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Dominantly inherited ataxias

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Beyond the Qs in the polyglutamine diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Are neuronal intranuclear inclusions the common neuropathology of triplet-repeat disorders with polyglutamine-repeat expansions?

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Glutamine repeats and neurodegenerative diseases: molecular aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Glutamine repeats and neurodegeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Letter: Hereditary ataxia and HL-A genotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical features and natural history of spinocerebellar ataxia type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Azorean disease of the nervous system.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and MRI findings in spinocerebellar ataxia type 5

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Pontine atrophy in spinocerebellar ataxia type 6

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Nineteen CAG repeats of the SCA6 gene in a Japanese patient presenting with ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and molecular features of spinocerebellar ataxia type 6

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Cytoplasmic and nuclear polyglutamine aggregates in SCA6 Purkinje cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Polyglutamine aggregates in SCA6 Purkinje cells: a tail of two toxicities.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Distribution of ataxin-7 in normal human brain and retina

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Are (CTG)n expansions at the SCA8 locus rare polymorphisms?

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical features and genetic analysis of a new form of spinocerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

CACNA1A mutations: hemiplegic migraine, episodic ataxia type 2, and the others

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense CACNA1A mutation causing episodic ataxia type 2

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Ataxia and calcium channels: what a headache!

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary paroxysmal ataxia: Response to acetazolamide

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Glucose metabolism alterations in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Brain Lesions in Friedreich's Ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Recent advances in the molecular pathogenesis of Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Rat liver alpha-tocopherol binding protein

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolated vitamin E deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sj�gren syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A-beta-lipoproteinemia: clinical and laboratory features, therapeutic manipulations, and follow-up study of three members of a Greek family

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Acanthocytosis and neurological disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Recessive ataxia with ocular motor apraxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Ataxia telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The genetic defect in ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Cockayne syndrome and xeroderma pigmentosum

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

hRAD30 mutations in the variant form of xeroderma pigmentosum

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Retracted: A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Linking DNA damage and neurodegeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Rhythmic tremor of the palate and other cranial limb muscles, with cerebellar ataxia: consider Whipple's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A new family of Boucher-Neuhäuser syndrome: coexistence of Holmes type cerebellar atrophy, hypogonadotropic hypogonadism and retinochoroidal degeneration: case reports and review of literature

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The clinical spectrum of hexosaminidase deficiency diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick type C: a disorder of cellular cholesterol trafficking

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Neurologic complications in galactosemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of peroxisomal disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of PAHX, a Refsum disease gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Paraneoplastic cerebellar degeneration. Case report and literature review

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Paraneoplastic neurologic syndromes: pathogenesis and physiopathology

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Paraneoplastic Syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Autoantibody screening in subacute cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Neurological disorders associated with adult coeliac disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Gluten sensitivity in sporadic and hereditary cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Cerebellar ataxia with anti-glutamic acid decarboxylase antibodies: study of 14 patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

CSF antigliadin antibodies and the Ramsay Hunt syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Ataxia associated with Hashimoto's disease: progressive non-familial adult onset cerebellar degeneration with autoimmune thyroiditis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple system atrophy: a review of 203 pathologically proven cases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

New insights into progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Progressive supranuclear palsy: a survey of the disease course.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic testing in spinocerebellar ataxias: defining a clinical role

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900008-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0733-8619(02)00008-7

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

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