(Q21202869)

Dimensions

18 August 2022

author name string

Nathaniel Robb Whaley

series ordinal

1

author given names

Nathaniel Robb

author last names

Whaley

1 reference

Dimensions

18 August 2022

Shinsuke Fujioka

series ordinal

2

author given names

Shinsuke

author last names

Fujioka

1 reference

Dimensions

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

28 May 2011

3 references

22 April 2019

25 April 2019

7 August 2019

3 references

22 April 2019

25 April 2019

7 August 2019

6

0 references

issue

1

0 references

page(s)

33

0 references

copyright license

Creative Commons Attribution 2.0 Generic

3 references

Europe PubMed Central

22 April 2019

Europe PubMed Central

25 April 2019

Europe PubMed Central

on focus list of Wikimedia project

7 August 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Massively parallel sequencing: the next big thing in genetic medicine

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

The non-coding RNAs as riboregulators

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Structure of the 55-kDa regulatory subunit of protein phosphatase 2A: evidence for a neuronal-specific isoform

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

The gene for Machado-Joseph disease maps to human chromosome 14q

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Spinocerebellar ataxia 2 (SCA2).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Magnetic resonance imaging in spinocerebellar ataxias

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Spinocerebellar ataxia type 8 in Scotland: frequency, neurological, neuropsychological and neuropsychiatric findings

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Spinocerebellar ataxias: an update

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Molecular pathogenesis of spinocerebellar ataxias.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

The pathogenesis of spinocerebellar ataxia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

The ins and outs of a polyglutamine neurodegenerative disease: spinocerebellar ataxia type 1 (SCA1).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Spinocerebellar ataxia type 1--modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Dentatorubropallidoluysian atrophy in a spanish family: a clinical, radiological, pathological, and genetic study

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

The deubiquitinating enzyme ataxin-3, a polyglutamine disease protein, edits Lys63 linkages in mixed linkage ubiquitin chains.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

The natural history of degenerative ataxia: a retrospective study in 466 patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Distribution of protein kinase C-like immunoreactive neurons in rat brain

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

The hereditary adult-onset ataxias in South Africa

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

Survival estimates for patients with Machado-Joseph disease (SCA3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

Cognitive impairment in spinocerebellar ataxia type 8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

Ethnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 family

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

The first identified French family with dentatorubral-pallidoluysian atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

21 January 2018

"SCA16" is really SCA15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Depressive and memory symptoms as presenting features of spinocerebellar ataxia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Evidence of a common founder for SCA12 in the Indian population.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

The clinical and genetic spectrum of spinocerebellar ataxia 14

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

SCA19 and SCA22: evidence for one locus with a worldwide distribution

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

A new autosomal dominant pure cerebellar ataxia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

Letter: Hereditary ataxia and HL-A genotypes

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3123548

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

29 November 2018

1 reference

12 December 2020

Molecular epidemiology of spinocerebellar ataxia type 6

1 reference

12 December 2020

Dystonia as a presenting sign of spinocerebellar ataxia type 1

1 reference

12 December 2020

Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation

1 reference

12 December 2020

Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds

1 reference

12 December 2020

A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

1 reference

12 December 2020

Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families

1 reference

12 December 2020

Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease

1 reference

12 December 2020

Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12

1 reference

12 December 2020

Clinical features and natural history of spinocerebellar ataxia type 1

1 reference

12 December 2020

Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene

1 reference

12 December 2020

Dentatorubral pallidoluysian atrophy in a Turkish family

1 reference

12 December 2020

Clinical and MRI findings in spinocerebellar ataxia type 5

1 reference

12 December 2020

[Radiculo-posterior cord form of spinocerebellar degeneration.]

1 reference

12 December 2020

Severe cerebral white matter involvement in a case of dentatorubropallidoluysian atrophy studied at autopsy

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

The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10

1 reference

12 December 2020

Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese

1 reference

12 December 2020

A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families

1 reference

12 December 2020

Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat

1 reference

12 December 2020

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

1 reference

12 December 2020

Unmasking psychiatric symptoms after STN deep brain stimulation in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-33

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1186/1750-1172-6-33

1 reference

0 references

1 reference

1 reference

PubMed publication ID

21619691

1 reference