(Q33992649)

30 July 2017

1 reference

title

The molecular biology of the autosomal-dominant cerebellar ataxias (English)

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30 July 2017

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Klockgether T

1

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30 July 2017

Wüllner U

series ordinal

2

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30 July 2017

Spauschus A

series ordinal

3

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30 July 2017

Evert B

series ordinal

4

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30 July 2017

language of work or name

English

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publication date

1 July 2000

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30 July 2017

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30 July 2017

15

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30 July 2017

4

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30 July 2017

604-612

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

30 July 2017

1 reference

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The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

21 January 2018

1 reference

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

21 January 2018

1 reference

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The gene for Machado-Joseph disease maps to human chromosome 14q

21 January 2018

1 reference

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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

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

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Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Machado-Joseph disease: an autosomal dominant motor system degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Hereditary ataxia with sensory neuronopathy: Biemond's ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Familial paroxysmal kinesigenic ataxia and continuous myokymia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

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Genes involved in hereditary ataxias.

21 January 2018

1 reference

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The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis

21 January 2018

1 reference

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Ion channel mutations affecting muscle and brain.

21 January 2018

1 reference

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Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

21 January 2018

1 reference

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Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

21 January 2018

1 reference

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Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple-labeling immunofluorescent study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

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Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

21 January 2018

1 reference

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Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract

21 January 2018

1 reference

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Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases

21 January 2018

1 reference

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Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo

21 January 2018

1 reference

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Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation

21 January 2018

1 reference

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Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

The proteasome, a novel protease regulated by multiple mechanisms

21 January 2018

1 reference

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Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro

21 January 2018

1 reference

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Intranuclear neuronal inclusions: a common pathogenic mechanism for glutamine-repeat neurodegenerative diseases?

21 January 2018

1 reference

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Cloning of genomic and complementary DNA from Shaker, a putative potassium channel gene from Drosophila

21 January 2018

1 reference

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Structural basis of voltage-gated K+ channel pharmacology

21 January 2018

1 reference

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The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

21 January 2018

1 reference

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Differential expression of K+ channel mRNAs in the rat brain and down-regulation in the hippocampus following seizures

21 January 2018

1 reference

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Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Three novel KCNA1 mutations in episodic ataxia type I families

21 January 2018

1 reference

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Identification of two new KCNA1 mutations in episodic ataxia/myokymia families

21 January 2018

1 reference

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A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

21 January 2018

1 reference

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Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Episodic ataxia results from voltage-dependent potassium channels with altered functions

21 January 2018

1 reference

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Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.

21 January 2018

1 reference

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Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Progressive ataxia due to a missense mutation in a calcium-channel gene

21 January 2018

1 reference

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A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia

21 January 2018

1 reference

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High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

CAG Repeats in SCA6: Anticipating new clues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Clinical and molecular features of spinocerebellar ataxia type 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

Clinical and MRI findings in spinocerebellar ataxia type 5

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200007%2915%3A4%3C604%3A%3AAID-MDS1004%3E3.0.CO%3B2-K

10.1002/1531-8257(200007)15:4<604::AID-MDS1004>3.0.CO;2-K

21 January 2018

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DOI

1 reference

30 July 2017

1 reference