(Q34778116)

4 August 2017

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title

The spinocerebellar ataxias: order emerges from chaos (English)

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4 August 2017

Russell L Margolis

1

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4 August 2017

publication date

1 September 2002

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Current Neurology and Neuroscience Reports

4 August 2017

published in

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4 August 2017

volume

2

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4 August 2017

issue

5

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4 August 2017

page(s)

447-456

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Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features

4 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS11910-002-0072-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-002-0072-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-002-0072-8

A new autosomal dominant pure cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-002-0072-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-002-0072-8

Cognitive planning deficit in patients with cerebellar atrophy.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-002-0072-8

Bilateral human fetal striatal transplantation in Huntington's disease.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-002-0072-8

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

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS11910-002-0072-8

21 January 2018

12 December 2020

Clinical and MRI findings in spinocerebellar ataxia type 5

1 reference

https://api.crossref.org/works/10.1007%2FS11910-002-0072-8

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

21 January 2018

1 reference

12 December 2020

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

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12 December 2020

On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family

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12 December 2020

Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila

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12 December 2020

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12 December 2020

Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype

1 reference

12 December 2020

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

1 reference

12 December 2020

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia

1 reference

12 December 2020

Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.

1 reference

12 December 2020

Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity

1 reference

12 December 2020

Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia.

1 reference

12 December 2020

Double-blind crossover study of branched-chain amino acid therapy in patients with spinocerebellar degeneration

1 reference

12 December 2020

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

12 December 2020

Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice

1 reference

12 December 2020

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

1 reference

12 December 2020

SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1

1 reference

12 December 2020

Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Expansion explosion: new clues to the pathogenesis of repeat expansion neurodegenerative diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis

1 reference

12 December 2020

Evidence for a new spinocerebellar ataxia locus

1 reference

12 December 2020

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

1 reference

12 December 2020

Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6.

1 reference

12 December 2020

Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12

1 reference

12 December 2020

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

1 reference

12 December 2020

Impairment of the ubiquitin-proteasome system by protein aggregation

1 reference

12 December 2020

Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.

1 reference

12 December 2020

The aetiology of sporadic adult-onset ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical features of a large Australian pedigree with episodic ataxia type 1

1 reference

12 December 2020

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family

1 reference

12 December 2020

Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG

1 reference

12 December 2020

A bivalent Huntingtin binding peptide suppresses polyglutamine aggregation and pathogenesis in Drosophila

1 reference

12 December 2020

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion.

1 reference

12 December 2020

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

1 reference

12 December 2020

Executive dysfunction in spinocerebellar ataxia type 1.

1 reference

12 December 2020

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

1 reference

12 December 2020

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

1 reference

12 December 2020

Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis

1 reference

12 December 2020

Double-blind crossover trial of trimethoprim-sulfamethoxazole in spinocerebellar ataxia type 3/Machado-Joseph disease

1 reference

12 December 2020

Beyond the Qs in the polyglutamine diseases

1 reference

12 December 2020

Clinical trial of acetazolamide in SCA6, with assessment using the Ataxia Rating Scale and body stabilometry

1 reference

12 December 2020

Therapeutic opportunities in polyglutamine disease

1 reference

12 December 2020

Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex

1 reference

12 December 2020

Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1

1 reference

12 December 2020

Autosomal dominant cerebellar ataxias in the Netherlands: a national inventory

1 reference

12 December 2020

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

1 reference

12 December 2020

A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

Transcranial magnetic stimulation alleviates truncal ataxia in spinocerebellar degeneration

1 reference

12 December 2020

Proceed with care: direct predictive testing for Huntington disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families

1 reference

12 December 2020

A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

A controlled trial of idebenone in Huntington's disease

1 reference

12 December 2020

Genetic background of apparently idiopathic sporadic cerebellar ataxia

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12 December 2020

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

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12 December 2020

Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies

1 reference

12 December 2020

10.1007/S11910-002-0072-8

Identifiers

DOI

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Dimensions Publication ID

4 August 2017

1039612229

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