The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research (Q33627845)

28 July 2017

title

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research (English)

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28 July 2017

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Rachel Thompson

16

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Darren G Monckton

object named as

Darren G Monckton

13

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Volker Straub

10

object named as

Volker Straub

1 reference

28 July 2017

19

Hanns Lochmüller

1 reference

Aura Cecilia Jimenez Moreno

28 July 2017

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author name string

Libby Wood

1

1 reference

28 July 2017

Isabell Cordts

2

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28 July 2017

Antonio Atalaia

3

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28 July 2017

Chiara Marini-Bettolo

4

1 reference

28 July 2017

Paul Maddison

5

1 reference

28 July 2017

Margaret Phillips

6

1 reference

28 July 2017

Mark Roberts

7

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28 July 2017

Mark Rogers

8

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28 July 2017

Simon Hammans

9

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28 July 2017

Richard Petty

11

1 reference

28 July 2017

Richard Orrell

12

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28 July 2017

Nikoletta Nikolenko

14

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28 July 2017

Aura Cecilia Jimenez-Moreno

15

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28 July 2017

David Hilton-Jones

17

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28 July 2017

Chris Turner

18

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28 July 2017

publication date

10 April 2017

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28 July 2017

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28 July 2017

volume

264

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28 July 2017

issue

5

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28 July 2017

page(s)

979-988

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Creative Commons Attribution 4.0 International

28 July 2017

copyright license

start time

10 April 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Patient focused registries can improve health, care, and science

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Variability of multisystemic features in myotonic dystrophy type 1--lessons from Serbian registry

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Diagnostic odyssey of patients with myotonic dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

RNA toxicity in human disease and animal models: from the uncovering of a new mechanism to the development of promising therapies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Fatigue and daytime sleepiness scale in myotonic dystrophy type 1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1--the patients' perspective

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

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).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Collaborating to bring new therapies to the patient--the TREAT-NMD model.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

Myotonic dystrophy--forgotten aspects of an often neglected condition.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5413526

21 June 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8483-2

Predictors of disrupted social participation in myotonic dystrophy type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8483-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8483-2

157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8483-2

MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8483-2

Pitolisant versus placebo or modafinil in patients with narcolepsy: a double-blind, randomised trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8483-2

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-017-8483-2

Life habits in myotonic dystrophy type 1

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28397002

12 December 2020

inferred from PubMed ID database lookup

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/28397002

12 December 2020

inferred from PubMed ID database lookup

Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28397002

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00415-017-8483-2

1 reference

Dimensions Publication ID

28 July 2017

1084767346

0 references

Fatcat ID

release_kztngpdrhve3rjiw3cyzzbljlu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kztngpdrhve3rjiw3cyzzbljlu

24 November 2022

mapped directly with Wikidata item

PMC publication ID

5413526

1 reference

28 July 2017

1 reference