Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies (Q37446660)

20 August 2017

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies (English)

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20 August 2017

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3

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20 August 2017

Kathryn North

20

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Francesco Muntoni

31

object named as

Francesco Muntoni

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20 August 2017

Katherine G Meilleur

1

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20 August 2017

Minal S Jain

2

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20 August 2017

Ching-Yi Shieh

4

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20 August 2017

Eunice Kim

5

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20 August 2017

Melissa Waite

6

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20 August 2017

Michelle McGuire

7

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20 August 2017

Courtney Fiorini

8

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20 August 2017

Allan M Glanzman

9

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20 August 2017

Marion Main

10

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20 August 2017

Kristy Rose

11

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20 August 2017

Tina Duong

12

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20 August 2017

Roxanna Bendixen

13

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20 August 2017

Melody M Linton

14

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20 August 2017

Irene C Arveson

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20 August 2017

Carmel Nichols

16

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20 August 2017

Kelly Yang

17

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20 August 2017

Kenneth H Fischbeck

18

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20 August 2017

Kathryn R Wagner

19

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20 August 2017

Ami Mankodi

21

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20 August 2017

Christopher Grunseich

22

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20 August 2017

Elizabeth J Hartnett

23

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20 August 2017

Michaele Smith

24

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20 August 2017

Sandra Donkervoort

25

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20 August 2017

Alice Schindler

26

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20 August 2017

Angela Kokkinis

27

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20 August 2017

Meganne Leach

28

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20 August 2017

A Reghan Foley

29

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20 August 2017

James Collins

30

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20 August 2017

Anne Rutkowski

32

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20 August 2017

Carsten G Bönnemann

33

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20 August 2017

28 September 2014

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20 August 2017

Neuromuscular Disorders

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20 August 2017

25

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20 August 2017

1

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20 August 2017

43-54

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Natural history of pulmonary function in collagen VI-related myopathies

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Development and psychometric properties of the PROMIS(®) pediatric fatigue item banks

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

The collagen VI-related myopathies: muscle meets its matrix

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Consensus statement on standard of care for congenital muscular dystrophies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

The PedsQL in pediatric patients with Spinal Muscular Atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Natural history of Ullrich congenital muscular dystrophy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Congenital muscular dystrophies: new aspects of an expanding group of disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Respiratory involvement in inherited primary muscle conditions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

The Intraclass Correlation Coefficient as a Measure of Reliability

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Responsiveness of the motor function measure in neuromuscular diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Participation and quality of life in children with Duchenne muscular dystrophy using the International Classification of Functioning, Disability, and Health

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Responsiveness of the motor function measure in patients with spinal muscular atrophy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Monitoring changes and predicting loss of ambulation in Duchenne muscular dystrophy with the Motor Function Measure

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Relationships between motor impairments and activity limitations in patients with neuromuscular disorders.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Reliable surrogate outcome measures in multicenter clinical trials of Duchenne muscular dystrophy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Reliability of 4 outcome measures in pediatric spinal muscular atrophy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

PedsQL 4.0: reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Perception of quality of life by patients, partners and treating physicians.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5125840

Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy

3 December 2018

1 reference

12 December 2020

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

1 reference

12 December 2020

ACTIVLIM: a Rasch-built measure of activity limitations in children and adults with neuromuscular disorders

1 reference

12 December 2020

Informant Agreement in Behavior Ratings for Children with Epilepsy

1 reference

12 December 2020

Reference values of maximum isometric muscle force obtained in 270 children aged 4–16 years by hand-held dynamometry

1 reference

12 December 2020

Upper limb function in adults with Duchenne muscular dystrophy

1 reference

12 December 2020

Construct validity of the Quality of Upper Extremity Skills Test for children with cerebral palsy

1 reference

12 December 2020

Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy

1 reference

12 December 2020

Reliability of goniometric measurements in patients with Duchenne muscular dystrophy

1 reference

12 December 2020

10.1016/J.NMD.2014.09.010

Identifiers

DOI

1 reference

release_jrg2isdlbvchhiyau45a33llby

20 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jrg2isdlbvchhiyau45a33llby

24 November 2022

mapped directly with Wikidata item

1 reference

20 August 2017

PubMed publication ID

25307854

1 reference