(Q34770662)

4 August 2017

title

Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). (English)

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4 August 2017

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spinocerebellar ataxia

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spinocerebellar ataxia type 17

inferred from title

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2

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Giovanni Stevanin

object named as

Giovanni Stevanin

series ordinal

1

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publication date

1 January 2008

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4 August 2017

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4 August 2017

volume

7

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4 August 2017

issue

2

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4 August 2017

page(s)

170-178

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The clinical and genetic spectrum of spinocerebellar ataxia 14

4 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS12311-008-0016-1

Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-008-0016-1

Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-008-0016-1

Insoluble TATA-binding protein accumulation in Huntington's disease cortex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-008-0016-1

Intergenerational instability and marked anticipation in SCA-17

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-008-0016-1

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

21 January 2018

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12 December 2020

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

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12 December 2020

Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.

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12 December 2020

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

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12 December 2020

Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease

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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

Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations and in patients with schizophrenia and bipolar affective disorder

1 reference

12 December 2020

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia

1 reference

12 December 2020

Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study

1 reference

12 December 2020

De novo expansion of a CAG repeat in a Japanese patient with sporadic Huntington's disease

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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

Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.

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12 December 2020

Transcriptional activation modulated by homopolymeric glutamine and proline stretches

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12 December 2020

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

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12 December 2020

Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?

1 reference

12 December 2020

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

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12 December 2020

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease

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12 December 2020

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family

1 reference

12 December 2020

Glutamine repeats and neurodegeneration

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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

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12 December 2020

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

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12 December 2020

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

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12 December 2020

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

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12 December 2020

Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death.

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12 December 2020

FXTAS, SCA10, and SCA17 in American patients with movement disorders.

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

"Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes

1 reference

12 December 2020

Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes

1 reference

12 December 2020

Mutation at the SCA17 locus is not a common cause of primary dystonia

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12 December 2020

Minimum prevalence of spinocerebellar ataxia 17 in the north east of England

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12 December 2020

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

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12 December 2020

Three in one and one in three: it all depends on TBP.

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12 December 2020

Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases

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12 December 2020

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

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12 December 2020

Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma

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12 December 2020

Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation

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12 December 2020

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

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12 December 2020

Putamen dopamine transporter and glucose metabolism are reduced in SCA17.

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12 December 2020

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

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12 December 2020

Focal dystonia as a presenting sign of spinocerebellar ataxia 17.

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12 December 2020

Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family

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12 December 2020

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment

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12 December 2020

Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?

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12 December 2020

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

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12 December 2020

Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease

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12 December 2020

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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12 December 2020

RNA polymerase II transcription in murine cells lacking the TATA binding protein

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype

1 reference

12 December 2020

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias

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12 December 2020

The N-terminal domain of the human TATA-binding protein plays a role in transcription from TATA-containing RNA polymerase II and III promoters

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12 December 2020

SCA17 homozygote showing Huntington's disease-like phenotype.

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12 December 2020

Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting

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12 December 2020

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

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12 December 2020

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

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12 December 2020

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

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12 December 2020

Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia

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12 December 2020

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

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12 December 2020

Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7.

1 reference

12 December 2020

Molecular investigation of TBP allele length: a SCA17 cellular model and population study

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12 December 2020

Mutation at the SCA17 locus is not a common cause of parkinsonism

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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

Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients

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12 December 2020

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias

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12 December 2020

Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia

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12 December 2020

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

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12 December 2020

Electrophysiologic characterization in spinocerebellar ataxia 17.

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12 December 2020

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

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12 December 2020

SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Spinocerebellar ataxia type 17 in the Yugoslav population

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12 December 2020

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity

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12 December 2020

The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27.

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12 December 2020

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

12 December 2020

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

1 reference

12 December 2020

10.1007/S12311-008-0016-1

Identifiers

DOI

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Dimensions Publication ID

4 August 2017

1038131449

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1 reference