(Q35956314)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22666787%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

title

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families (English)

1 reference

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3 February 2020

1 reference

1 reference

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3 February 2020

Lineu C Werneck

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22666787%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Hélio A G Teive

1 reference

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3 February 2020

Renato P Munhoz

1 reference

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3 February 2020

Walter O Arruda

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22666787%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Salmo Raskin

series ordinal

1 reference

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3 February 2020

Tetsuo Ashizawa

series ordinal

1 reference

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3 February 2020

publication date

1 January 2012

1 reference

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3 February 2020

1 reference

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3 February 2020

volume

1 reference

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3 February 2020

issue

1 reference

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3 February 2020

page(s)

443-449

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22666787%20AND%20SRC:MED&resulttype=core&format=json

Spinocerebellar ataxia type 10 - A review

3 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Oculomotor phenotypes in autosomal dominant ataxias

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351252

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients

24 September 2018

1 reference

12 December 2020

Extrapyramidal motor signs in degenerative ataxias

1 reference

12 December 2020

Spinocerebellar ataxia type 10 is rare in populations other than Mexicans

1 reference

12 December 2020

Movement disorders in hereditary ataxias

1 reference

12 December 2020

Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family

1 reference

12 December 2020

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

1 reference

12 December 2020

Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy

1 reference

12 December 2020

Spinocerebellar degenerations in Japan. New insights from an epidemiological study

1 reference

12 December 2020

Spinocerebellar ataxias

1 reference

12 December 2020

Symptom onset of spinocerebellar ataxia type 10 in pregnancy and puerperium

1 reference

12 December 2020

10.6061/CLINICS/2012(05)07

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22666787%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22666787%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

PubMed publication ID

22666787

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22666787%20AND%20SRC:MED&resulttype=core&format=json