Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Janneke C van den Bergen; Monika Hiller; Stefan Böhringer; Linda Vijfhuizen; Hendrika B Ginjaar; Amina Chaouch; Kate Bushby; Volker Straub; Mariacristina Scoto; Sebahattin Cirak; Véronique Humbertclaude; Mireille Claustres; Chiara Scotton; Chiara Passarelli; Hanns Lochmüller; Francesco Muntoni; Sylvie Tuffery-Giraud; Alessandra Ferlini; Annemieke M Aartsma-Rus; Jan J G M Verschuuren; Peter AC 't Hoen; Pietro Spitali

doi:10.1136/jnnp-2014-308409

Article info

PDF

PDF +
Supplementary
Material

Neuromuscular

Research paper

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Authors

Janneke C van den Bergen Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Monika Hiller Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Stefan Böhringer Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Linda Vijfhuizen Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Hendrika B Ginjaar Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Amina Chaouch Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Kate Bushby Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Volker Straub Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Mariacristina Scoto Dubowitz Neuromuscular Centre, University College London, London, UK PubMed articles Google scholar articles
Sebahattin Cirak Dubowitz Neuromuscular Centre, University College London, London, UK Children's National Medical Center, Research Center for Genetic Medicine, Washington DC, USA PubMed articles Google scholar articles
Véronique Humbertclaude Laboratoire de Génétique de Maladies Rares, CHU Montpellier, Université Montpellier 1, UFR Médecine, and Inserm U827, Montpellier, France PubMed articles Google scholar articles
Mireille Claustres Laboratoire de Génétique de Maladies Rares, CHU Montpellier, Université Montpellier 1, UFR Médecine, and Inserm U827, Montpellier, France PubMed articles Google scholar articles
Chiara Scotton Department of Medical Sciences, Section of Microbiology and Medical Genetics, University of Ferrara, Ferrara, Italy PubMed articles Google scholar articles
Chiara Passarelli Paediatric Hospital Bambino Gesù, Rome, Italy PubMed articles Google scholar articles
Hanns Lochmüller Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Francesco Muntoni Dubowitz Neuromuscular Centre, University College London, London, UK PubMed articles Google scholar articles
Sylvie Tuffery-Giraud Laboratoire de Génétique de Maladies Rares, CHU Montpellier, Université Montpellier 1, UFR Médecine, and Inserm U827, Montpellier, France PubMed articles Google scholar articles
Alessandra Ferlini Department of Medical Sciences, Section of Microbiology and Medical Genetics, University of Ferrara, Ferrara, Italy PubMed articles Google scholar articles
Annemieke M Aartsma-Rus Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Jan J G M Verschuuren Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Peter AC 't Hoen Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Pietro Spitali Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles

Correspondence to Dr Pietro Spitali, Department of Human Genetics, Leiden University Medical Center (LUMC), PO Box 9600, Leiden 2300 RC, The Netherlands; p.spitali{at}lumc.nl

View Full Text

Citation

van den Bergen JC, Hiller M, Böhringer S, et al

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Journal of Neurology, Neurosurgery & Psychiatry 2015;86:1060-1065.

Publication history

Received April 24, 2014
Revised September 16, 2014
Accepted November 9, 2014
First published December 4, 2014.

Online issue publication

April 13, 2016

Article Versions

Previous version (13 April 2016).
You are viewing the most recent version of this article.

Supplementary Data

This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

Files in this Data Supplement:

Data supplement 1 - Online supplement
Data supplement 2 - Online supplement
Data supplement 3 - Online supplement

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

Log in using your username and password

Main menu

Log in using your username and password

You are here

Authors

Citation

Publication history

Article Versions

Supplementary Data

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password