Therapy of collagen VI-related myopathies (Bethlem and Ullrich). (Q34883830)

5 August 2017

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title

Therapy of collagen VI-related myopathies (Bethlem and Ullrich). (English)

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5 August 2017

Luciano Merlini

1

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Paolo Bernardi

object named as

Paolo Bernardi

series ordinal

2

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publication date

1 October 2008

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5 August 2017

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5 August 2017

volume

5

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5 August 2017

issue

4

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5 August 2017

page(s)

613-618

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A refined diagnostic algorithm for Bethlem myopathy

5 August 2017

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8 July 2018

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Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem

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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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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8 July 2018

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A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

8 July 2018

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Clinical trials and rare diseases: a way out of a conundrum

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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21 January 2018

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21 January 2018

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Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

26 October 2018

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Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families

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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21 January 2018

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21 January 2018

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12 December 2020

Functional outcomes of arthroscopic capsular release of the elbow

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12 December 2020

A therapy for myopathy caused by collagen VI mutations?

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12 December 2020

Anterior release of the elbow for extension loss

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12 December 2020

Local dystrophin restoration with antisense oligonucleotide PRO051

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12 December 2020

Proteomic investigation of the molecular pathophysiology of dysferlinopathy

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12 December 2020

10.1016/J.NURT.2008.08.004

Identifiers

DOI

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Dimensions Publication ID

5 August 2017

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5 August 2017

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