(Q24675962)

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

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755926%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

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

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755926%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

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spinocerebellar ataxia

1 reference

based on heuristic

inferred from title

axonal neuropathy

1 reference

based on heuristic

inferred from title

author name string

K Flanigan

1

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Europe PubMed Central

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18 October 2019

K Gardner

2

1 reference

Europe PubMed Central

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18 October 2019

K Alderson

3

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Europe PubMed Central

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18 October 2019

B Galster

4

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Europe PubMed Central

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18 October 2019

B Otterud

5

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18 October 2019

M F Leppert

6

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18 October 2019

C Kaplan

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755926%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

L J Ptácek

8

1 reference

Europe PubMed Central

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18 October 2019

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1 August 1996

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Europe PubMed Central

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18 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755926%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

59

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Europe PubMed Central

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18 October 2019

2

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Europe PubMed Central

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18 October 2019

392-399

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755926%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

7 April 2017

Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

7 April 2017

Molecular cloning and physical and genetic mapping of a novel human Na+/H+ exchanger (NHE5/SLC9A5) to chromosome 16q22.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

7 April 2017

The 1993-94 Généthon human genetic linkage map

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

7 April 2017

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 September 2017

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 September 2017

Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 September 2017

The olivopontocerebellar atrophies: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 September 2017

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 September 2017

Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 September 2017

Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 September 2017

Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 September 2017

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 September 2017

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

30 May 2018

A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

30 May 2018

Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

30 May 2018

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 November 2018

Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 November 2018

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 November 2018

Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 November 2018

Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914712

28 November 2018

Machado-Joseph disease and SCA3: the genotype meets the phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Radiculo-posterior cord form of spinocerebellar degeneration.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peripheral neuropathy in spinocerebellar degenerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant cerebellar phenotypes: the genotype has settled the issue

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755926

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755926%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PubMed publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755926%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

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