PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling (Q41956578)

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27 March 2020

review article

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title

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling (English)

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oculopharyngeal muscular dystrophy

27 March 2020

main subject

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Capucine Trollet

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27 March 2020

Teresa Gidaro

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27 March 2020

Laurence Demay

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27 March 2020

Guy Brochier

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27 March 2020

Edoardo Malfatti

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27 March 2020

Fernando Ms Tom

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27 March 2020

Pascal Lafor

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27 March 2020

Norma Romero

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27 March 2020

Marie-Laure Martin-N

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27 March 2020

Guilhem Sol

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27 March 2020

Xavier Ferrer-Monasterio

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27 March 2020

Jean Lacau Saint-Guily

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27 March 2020

Bruno Eymard

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27 March 2020

language of work or name

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1 June 2015

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Journal of neuromuscular diseases

27 March 2020

published in

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27 March 2020

volume

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issue

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27 March 2020

page(s)

175-180

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describes a project that uses

27 March 2020

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

cites work

Oculopharyngeal muscular dystrophy --an under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271460

Oculopharyngeal muscular dystrophy associated with dementia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271460

Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271460

Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271460

Oculopharyngeal muscular dystrophy - an under-diagnosed disorder?

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271460

Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271460

Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271460

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271460

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271460

Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271460

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271460

Atrophy, Fibrosis, and Increased PAX7-Positive Cells in Pharyngeal Muscles of Oculopharyngeal Muscular Dystrophy Patients

18 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.3233%2FJND-140060

191st ENMC International Workshop: Recent advances in oculopharyngeal muscular dystrophy research: From bench to bedside 8-10 June 2012, Naarden, The Netherlands

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.3233%2FJND-140060

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy

21 January 2018

1 reference

12 December 2020

Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy

1 reference

12 December 2020

A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP)

1 reference

12 December 2020

Variability of the recessive oculopharyngeal muscular dystrophy phenotype

1 reference

12 December 2020

Nuclear inclusions in oculopharyngeal dystrophy

1 reference

12 December 2020

Recent studies on oculopharyngeal muscular dystrophy in Québec

1 reference

12 December 2020

Siblings with recessive oculopharyngeal muscular dystrophy

1 reference

12 December 2020

GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy

1 reference

12 December 2020

Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids

1 reference

12 December 2020

Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy

1 reference

12 December 2020

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

1 reference

12 December 2020

Identifiers

DOI

10.3233/JND-140060

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858728%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

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27 March 2020

PubMed publication ID

27858728

1 reference

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