Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder? (Q34446543)

2 August 2017

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title

Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder? (English)

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spinocerebellar ataxia type 6

2 August 2017

main subject

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M Frontali

1

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2 August 2017

publication date

1 October 2001

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2 August 2017

published in

Brain Research Bulletin

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2 August 2017

volume

56

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2 August 2017

issue

3-4

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2 August 2017

page(s)

227-231

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Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13.

2 August 2017

cites work

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

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

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Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia

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Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity

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7 January 2021

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6).

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Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia

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7 January 2021

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia

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7 January 2021

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

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7 January 2021

Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit

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7 January 2021

Spinocerebellar ataxia type 6 in relation to CAG repeat length

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation

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7 January 2021

Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Protein fate in neurodegenerative proteinopathies: polyglutamine diseases join the (mis)fold

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7 January 2021

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

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7 January 2021

Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6).

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7 January 2021

Spinocerebellar ataxia type 6: MRI of three Japanese patients.

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7 January 2021

Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.

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7 January 2021

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

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7 January 2021

Clinical and molecular features of spinocerebellar ataxia type 6

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7 January 2021

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

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7 January 2021

Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function

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7 January 2021

The expression of neuronal voltage-dependent calcium channels in human cerebellum

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7 January 2021

Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6

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7 January 2021

Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels

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7 January 2021

Morphological Purkinje cell changes in spinocerebellar ataxia type 6

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7 January 2021

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

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7 January 2021

De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia

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7 January 2021

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

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7 January 2021

10.1016/S0361-9230(01)00574-3

Identifiers

DOI

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2 August 2017

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