(Q34347658)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25055202%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Genes and genetic testing in hereditary ataxias (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25055202%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25055202%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Erin Sandford

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25055202%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

publication date

22 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25055202%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25055202%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25055202%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25055202%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

page(s)

586-603

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25055202%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

10 March 2020

start time

22 July 2014

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

cites work

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6 July 2018

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Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study

6 July 2018

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CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome

6 July 2018

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Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

6 July 2018

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Mutations in KCND3 cause spinocerebellar ataxia type 22.

6 July 2018

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FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

6 July 2018

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Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

6 July 2018

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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

6 July 2018

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Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

6 July 2018

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Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

6 July 2018

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Recent advances in the genetics of cerebellar ataxias

6 July 2018

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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

6 July 2018

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Prevalence rate and functional status of cerebellar ataxia in Korea

6 July 2018

1 reference

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6 July 2018

Episodic ataxias 1 and 2

1 reference

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RNF170 Protein, an Endoplasmic Reticulum Membrane Ubiquitin Ligase, Mediates Inositol 1,4,5-Trisphosphate Receptor Ubiquitination and Degradation

6 July 2018

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Non-ATG-initiated translation directed by microsatellite expansions

6 July 2018

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The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability

6 July 2018

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Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

6 July 2018

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Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

6 July 2018

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The human mitochondrial replication fork in health and disease

6 July 2018

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Autosomal recessive ataxias: 20 types, and counting

6 July 2018

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Exome sequencing identifies the cause of a mendelian disorder

6 July 2018

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High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus.

6 July 2018

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Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Inositol trisphosphate and calcium signalling mechanisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Isolated spastic paraparesis leading to diagnosis of Friedreich's ataxia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Release of Ca2+ from a nonmitochondrial intracellular store in pancreatic acinar cells by inositol-1,4,5-trisphosphate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

Cerebellar ataxia in the eastern and southern parts of Norway

6 July 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Obstetrical and gynecological complications in fragile X carriers: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Characterizing POLG ataxia: clinics, electrophysiology and imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Orphan nuclear receptor ROR alpha-deficient mice display the cerebellar defects of staggerer

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Ethical aspects of undergoing a predictive genetic testing for Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030586

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198919

The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm

27 October 2018

1 reference

12 December 2020

Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD)

1 reference

12 December 2020

"It's about having the choice": stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome

1 reference

12 December 2020

Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds

1 reference

12 December 2020

The spinocerebellar ataxias

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12 December 2020

X-linked congenital ataxia: A clinical and genetic study

1 reference

12 December 2020

Very late onset Friedreich's presenting as spastic tetraparesis without ataxia or neuropathy

1 reference

12 December 2020

Identifiers

DOI

10.3390/GENES5030586

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25055202%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25055202%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

PubMed publication ID

25055202

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25055202%20AND%20SRC:MED&resulttype=core&format=json