An update on inherited ataxias (Q37203409)

18 August 2017

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title

An update on inherited ataxias (English)

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18 August 2017

2

Thomas Klockgether

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18 August 2017

1

Tanja Schmitz-Hübsch

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18 August 2017

publication date

1 July 2008

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Current Neurology and Neuroscience Reports

18 August 2017

published in

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18 August 2017

volume

8

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18 August 2017

issue

4

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18 August 2017

page(s)

310-319

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https://scigraph.springernature.com/pub.10.1007/s11910-008-0048-4

18 August 2017

exact match

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cites work

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

1 reference

https://api.crossref.org/works/10.1007%2FS11910-008-0048-4

A new autosomal dominant pure cerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-008-0048-4

Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-008-0048-4

Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-008-0048-4

The NBS1-ATM connection revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-008-0048-4

Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-008-0048-4

Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-008-0048-4

The fragile-X premutation: a maturing perspective

21 January 2018

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12 December 2020

Primary episodic ataxias: diagnosis, pathogenesis and treatment

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12 December 2020

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12 December 2020

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

1 reference

12 December 2020

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

1 reference

12 December 2020

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

1 reference

12 December 2020

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

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12 December 2020

Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model

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12 December 2020

Proteasome function is inhibited by polyglutamine-expanded ataxin-1, the SCA1 gene product

1 reference

12 December 2020

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

1 reference

12 December 2020

Friedreich's ataxia: iron chelators that target the mitochondrion as a therapeutic strategy?

1 reference

12 December 2020

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

1 reference

12 December 2020

Spinocerebellar ataxias: an update

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12 December 2020

Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome.

1 reference

12 December 2020

An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor dom

1 reference

12 December 2020

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

1 reference

12 December 2020

Screening of the SPTBN2 (SCA5) gene in German SCA patients

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

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

1 reference

12 December 2020

Gene-based approaches toward Friedreich ataxia therapeutics

1 reference

12 December 2020

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

1 reference

12 December 2020

Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up

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12 December 2020

Ataxin-3 represses transcription via chromatin binding, interaction with histone deacetylase 3, and histone deacetylation

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12 December 2020

Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration.

1 reference

12 December 2020

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

1 reference

12 December 2020

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

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12 December 2020

Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice

1 reference

12 December 2020

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

1 reference

12 December 2020

Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat.

1 reference

12 December 2020

Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia

1 reference

12 December 2020

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

12 December 2020

Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia

1 reference

12 December 2020

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

1 reference

12 December 2020

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

1 reference

12 December 2020

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

1 reference

12 December 2020

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.

1 reference

12 December 2020

Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.

1 reference

12 December 2020

RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia.

1 reference

12 December 2020

Molecular pathogenesis of spinocerebellar ataxia type 6.

1 reference

12 December 2020

Friedreich's ataxia: clinical pilot trial with recombinant human erythropoietin

1 reference

12 December 2020

Diagnosis and management of early- and late-onset cerebellar ataxia

1 reference

12 December 2020

Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized

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12 December 2020

Rapamycin alleviates toxicity of different aggregate-prone proteins

1 reference

12 December 2020

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

1 reference

12 December 2020

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

1 reference

12 December 2020

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

1 reference

12 December 2020

Infectious Delivery and Expression of a 135 kb Human FRDA Genomic DNA Locus Complements Friedreich's Ataxia Deficiency in Human Cells

1 reference

12 December 2020

Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector

1 reference

12 December 2020

Modulation of neurodegeneration by molecular chaperones

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12 December 2020

Friedreich's ataxia: from disease mechanisms to therapeutic interventions

1 reference

12 December 2020

Recombinant human erythropoietin: effects on frataxin expression in vitro

1 reference

12 December 2020

Scale for the assessment and rating of ataxia: development of a new clinical scale

1 reference

12 December 2020

Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

1 reference

12 December 2020

Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.

1 reference

12 December 2020

A subgroup of spinocerebellar ataxias defective in DNA damage responses

1 reference

12 December 2020

Hereditary spastic paraplegia

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12 December 2020

Molecular pathogenesis of spinocerebellar ataxias.

1 reference

12 December 2020

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

1 reference

12 December 2020

Molecular pathology of ataxia telangiectasia

1 reference

12 December 2020

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial

1 reference

12 December 2020

The ataxia-ome: connecting disease proteins of the cerebellum.

1 reference

12 December 2020

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

1 reference

12 December 2020

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

1 reference

12 December 2020

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

1 reference

12 December 2020

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

1 reference

12 December 2020

A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15.

1 reference

12 December 2020

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

12 December 2020

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

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12 December 2020

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

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12 December 2020

Sporadic adult onset ataxia of unknown etiology : a clinical, electrophysiological and imaging study

1 reference

12 December 2020

10.1007/S11910-008-0048-4

Identifiers

DOI

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18 August 2017

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