Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy (Q33840898)

29 July 2017

title

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy (English)

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facioscapulohumeral muscular dystrophy

29 July 2017

main subject

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12

Volker Straub

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29 July 2017

13

Hanns Lochmüller

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29 July 2017

Sandra Moreira

1

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29 July 2017

Libby Wood

2

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29 July 2017

Debbie Smith

3

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29 July 2017

Chiara Marini-Bettolo

4

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29 July 2017

Michela Guglieri

5

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29 July 2017

Grace McMacken

6

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29 July 2017

Geraldine Bailey

7

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29 July 2017

Anna Mayhew

8

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29 July 2017

Robert Muni-Lofra

9

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29 July 2017

Gail Eglon

10

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29 July 2017

Maggie Williams

11

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29 July 2017

Teresinha Evangelista

14

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29 July 2017

publication date

26 May 2017

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29 July 2017

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29 July 2017

volume

264

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29 July 2017

issue

6

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29 July 2017

page(s)

1271-1280

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Creative Commons Attribution 4.0 International

29 July 2017

copyright license

start time

26 May 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Genetic and epigenetic contributors to FSHD.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Pract

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Prevalence of muscular dystrophies: a systematic literature review

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Restrictive lung involvement in facioscapulohumeral muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Chronic obstructive pulmonary disease. National clinical guideline on management of chronic obstructive pulmonary disease in adults in primary and secondary care

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Facioscapulohumeral muscular dystrophy in early childhood

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5486574

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

28 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8525-9

Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8525-9

Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8525-9

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8525-9

Ventilatory support in facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8525-9

Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8525-9

Respiratory pattern in a FSHD pediatric population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8525-9

Sleep disordered breathing in facioscapulohumeral muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8525-9

Alveolar hypoventilation as an early symptom of muscle weakness in facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8525-9

Interpretative strategies for lung function tests

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8525-9

Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features

21 January 2018

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Respiratory pattern in an adult population of dystrophic patients

1 reference

12 December 2020

10.1007/S00415-017-8525-9

Identifiers

DOI

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Dimensions Publication ID

29 July 2017

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29 July 2017

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