(Q30468222)

11 August 2017

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization (English)

1 reference

11 August 2017

0 references

spinocerebellar ataxia

1 reference

Pilar Cacheiro

5

0 references

Ana I. Seixas

Ana I Seixas

4

0 references

Patricia Blanco-Arias

Patricia Blanco-Arias

10

0 references

Rosa Tarrío

Rosa Tarrío

Francisco Rodríguez-trelles

6

0 references

Francisco Rodríguez-Trelles

13

0 references

Isabel Silveira

Isabel Silveira

16

0 references

Manuel Arias

Manuel Arias

3

0 references

Jorge Sequeiros

Jorge Sequeiros

14

0 references

Ángel Carracedo

Angel Carracedo

15

0 references

author name string

María García-Murias

1

1 reference

11 August 2017

Beatriz Quintáns

2

1 reference

11 August 2017

Julio Pardo

7

1 reference

11 August 2017

María J Millán

8

1 reference

11 August 2017

Susana Arias-Rivas

9

1 reference

11 August 2017

Dolores Dapena

11

1 reference

11 August 2017

Ramón Moreira

12

1 reference

11 August 2017

María J Sobrido

17

1 reference

11 August 2017

language of work or name

English

0 references

publication date

3 April 2012

1 reference

11 August 2017

1 reference

11 August 2017

135

1 reference

11 August 2017

Pt 5

1 reference

11 August 2017

1423-1435

1 reference

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

RNA gain-of-function in spinocerebellar ataxia type 8.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

A comparison of bayesian methods for haplotype reconstruction from population genotype data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Using linked markers to infer the age of a mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

A New Statistical Method for Haplotype Reconstruction from Population Data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

A general method for the detection of large CAG repeat expansions by fluorescent PCR

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

The Staden sequence analysis package

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

20 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS069

Comparisons of acoustic function in SCA31 and other forms of ataxias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS069

Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS069

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS069

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS069

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS069

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS069

DMLE+: Bayesian linkage disequilibrium gene mapping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS069

Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS069

Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS069

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS069

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS069

Joint Bayesian estimation of mutation location and age using linkage disequilibrium.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338928

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

26 November 2018

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

Central distal axonopathy syndromes: Newly recognized models of naturally occurring human degenerative disease

1 reference

12 December 2020

Brainstem reflexes in patients with olivopontocerebellar atrophy

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWS069

1 reference

11 August 2017

1 reference

11 August 2017

1 reference