Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase (Q48006442)

7 February 2018

title

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase (English)

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7 February 2018

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Rabah Ben Yaou

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Christophe Beroud

object named as

Christophe Béroud

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Mireille Claustres

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object named as

Mireille Claustres

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Sylvie Tuffery-Giraud

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Sylvie Tuffery-Giraud

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France Leturcq

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Dalil Hamroun

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Laurence Michel-Calemard

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Marie-Pierre Moizard

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Rafaëlle Bernard

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Mireille Cossée

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Pierre Boisseau

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Martine Blayau

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Isabelle Creveaux

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Anne Guiochon-Mantel

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Bérengère de Martinville

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Christophe Philippe

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Nicole Monnier

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Eric Bieth

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Philippe Khau Van Kien

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François-Olivier Desmet

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Véronique Humbertclaude

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Jean-Claude Kaplan

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Jamel Chelly

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publication date

1 June 2009

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7 February 2018

published in

Human Mutation

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7 February 2018

volume

30

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issue

6

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7 February 2018

page(s)

934-945

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7 February 2018

Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense

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Membrane organization of the dystrophin-glycoprotein complex

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A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype

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Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

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On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

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7 January 2021

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene

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A perfect message: RNA surveillance and nonsense-mediated decay

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ZZ domain of dystrophin and utrophin: topology and mapping of a beta-dystroglycan interaction site

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Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy

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7 January 2021

The prevalence of inherited neuromuscular disease in Northern Ireland

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7 January 2021

ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan

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7 January 2021

The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use.

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Dynamics of co-transcriptional pre-mRNA folding influences the induction of dystrophin exon skipping by antisense oligonucleotides

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7 January 2021

PTC124 targets genetic disorders caused by nonsense mutations

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7 January 2021

Duplications in the DMD gene

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7 January 2021

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20976

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7 February 2018

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7 February 2018