If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). (Q34095613)

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English	If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

31 July 2017

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). (English)

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Europe PubMed Central

PubMed publication ID

31 July 2017

facioscapulohumeral muscular dystrophy

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myotonic dystrophy

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Rabi Tawil

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31 July 2017

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James E Hilbert

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31 July 2017

John T Kissel

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31 July 2017

Elizabeth A Luebbe

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31 July 2017

William B Martens

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31 July 2017

Michael P McDermott

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31 July 2017

Donald B Sanders

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Charles A Thornton

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Richard T Moxley

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Registry Scientific Advisory Committee

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publication date

26 November 2011

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31 July 2017

Contemporary Clinical Trials

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31 July 2017

33

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2

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31 July 2017

302-311

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31 July 2017

Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions

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Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

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Clinical features of facioscapulohumeral muscular dystrophy 2.

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A unifying genetic model for facioscapulohumeral muscular dystrophy

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Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

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5 July 2018

Impact of biopsychosocial factors on chronic pain in persons with myotonic and facioscapulohumeral muscular dystrophy

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Premutation allele pool in myotonic dystrophy type 2.

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Myotonic dystrophy: therapeutic strategies for the future

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Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy

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Myotonic dystrophy: RNA-mediated muscle disease

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5 July 2018

Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy

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The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology

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Myotonic dystrophy: emerging mechanisms for DM1 and DM2.

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140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management

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Health information systems - past, present, future

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Clinical and molecular aspects of the myotonic dystrophies: a review.

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5 July 2018

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

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5 July 2018

Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.

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5 July 2018

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

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5 July 2018

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

1 reference

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5 July 2018

Age and causes of death in adult-onset myotonic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3357007

5 July 2018

Genetic mapping of a second myotonic dystrophy locus

1 reference

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5 July 2018

The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3357007

5 July 2018

Facioscapulohumeral muscular dystrophy in early childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3357007

5 July 2018

Genetic risks for children of women with myotonic dystrophy

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3357007

5 July 2018

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3357007

5 July 2018

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

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5 July 2018

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3357007

5 July 2018

Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3357007

28 October 2018

How much expansion to be diseased?: toward repeat size and myotonic dystrophy type 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3357007

28 October 2018

Using focus groups to inform the Neuro-QOL measurement tool: exploring patient-centered, health-related quality of life concepts across neurological conditions.

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28 October 2018

Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period.

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28 October 2018

Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I.

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Challenges in drug development for muscle disease: a stakeholders' meeting

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Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

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Myotonic dystrophy type 2 (DM2) and related disorders

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171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy

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A registry of registries? The US backs the idea for patients

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https://pubmed.ncbi.nlm.nih.gov/22155025

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The case for a global rare-diseases registry

1 reference

https://pubmed.ncbi.nlm.nih.gov/22155025

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New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC)

1 reference

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Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy

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Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group

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On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy

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A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. The FSH-DY Group

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Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)

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Facioscapulohumeral muscular dystrophy

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Identifiers

10.1016/J.CCT.2011.11.016

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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