Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol (Q35015983)

5 August 2017

title

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol (English)

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facioscapulohumeral muscular dystrophy

5 August 2017

main subject

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9

Ger J M Stienen

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5 August 2017

Silvère M van der Maarel

object named as

Silvère M van der Maarel

6

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George W. Padberg

8

object named as

George W Padberg

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5 August 2017

10

Baziel G M van Engelen

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5 August 2017

3

Nicol C Voermans

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5 August 2017

2

Coen A C Ottenheijm

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5 August 2017

Saskia Lassche

1

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5 August 2017

Henk-Jan Westeneng

4

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5 August 2017

Barbara H Janssen

5

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5 August 2017

Maria T Hopman

7

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5 August 2017

publication date

11 October 2013

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5 August 2017

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5 August 2017

volume

13

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5 August 2017

page(s)

144

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Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

5 August 2017

cites work

1 reference

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8 July 2018

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DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

8 July 2018

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The FSHD atrophic myotube phenotype is caused by DUX4 expression

8 July 2018

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Myostatin induces degradation of sarcomeric proteins through a Smad3 signaling mechanism during skeletal muscle wasting

8 July 2018

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DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo

8 July 2018

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Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.

8 July 2018

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Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

8 July 2018

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Clinical features of facioscapulohumeral muscular dystrophy 2.

8 July 2018

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Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein

8 July 2018

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A unifying genetic model for facioscapulohumeral muscular dystrophy

8 July 2018

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8 July 2018

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Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites

8 July 2018

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Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).

8 July 2018

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Tuning passive mechanics through differential splicing of titin during skeletal muscle development

8 July 2018

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Nebulin alters cross-bridge cycling kinetics and increases thin filament activation: a novel mechanism for increasing tension and reducing tension cost

8 July 2018

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FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy

8 July 2018

1 reference

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Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

8 July 2018

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Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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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)

8 July 2018

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

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The development of a model of fatigue in neuromuscular disorders: a longitudinal study

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Measurement of patient outcome in arthritis

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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12 December 2020

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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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Facioscapulohumeral muscular dystrophy

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12 December 2020

Facioscapulohumeral dystrophy

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12 December 2020

Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy

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Identifiers

DOI

10.1186/1471-2377-13-144

1 reference

Dimensions Publication ID

5 August 2017

0 references

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5 August 2017

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