Literature DB >> 14722924

Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD).

Jin Yan1, Jinong Feng1, Carolyn H Buzin1, William Scaringe1, Qiang Liu1, Jerry R Mendell2, Johan den Dunnen3, Steve S Sommer1.   

Abstract

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Year:  2004        PMID： 14722924     DOI： 10.1002/humu.10307

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  8 in total

1.  Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene.

Authors:  Kevin M Flanigan; Diane Dunn; C Aaron Larsen; Livija Medne; Carsten B Bönnemann; Robert B Weiss
Journal:  Muscle Nerve       Date:  2011-11       Impact factor: 3.217

2.  Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

Authors:  Peter J Taylor; Sarah Maroulis; Glenda L Mullan; Robyn L Pedersen; Aurora Baumli; George Elakis; Sara Piras; Corrina Walsh; Benito Prósper-Gutiérrez; Fernando De La Puente-Alonso; Christopher G Bell; David R Mowat; Heather M Johnston; Michael F Buckley
Journal:  J Med Genet       Date:  2007-01-26       Impact factor: 6.318

3.  'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia.

Authors:  Sandra Donkervoort; Alice Schindler; Carolina Tesi-Rocha; Allison Schreiber; Meganne E Leach; Jahannaz Dastgir; Ying Hu; Ami Mankodi; Kathryn R Wagner; Neil R Friedman; Carsten G Bönnemann
Journal:  Neuromuscul Disord       Date:  2013-08-11       Impact factor: 4.296

4.  Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

Authors:  Christopher Cunniff; Jennifer Andrews; F John Meaney; Katherine D Mathews; Dennis Matthews; Emma Ciafaloni; Timothy M Miller; John B Bodensteiner; Lisa A Miller; Katherine A James; Charlotte M Druschel; Paul A Romitti; Shree Pandya
Journal:  J Child Neurol       Date:  2008-12-12       Impact factor: 1.987

5.  Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.

Authors:  Yan Wang; Yao Yang; Jing Liu; Xiao-Chun Chen; Xin Liu; Chun-Zhi Wang; Xi-Yu He
Journal:  Mol Genet Genomics       Date:  2014-04-27       Impact factor: 3.291

6.  Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Authors:  Kevin M Flanigan; Diane M Dunn; Andrew von Niederhausern; Payam Soltanzadeh; Eduard Gappmaier; Michael T Howard; Jacinda B Sampson; Jerry R Mendell; Cheryl Wall; Wendy M King; Alan Pestronk; Julaine M Florence; Anne M Connolly; Katherine D Mathews; Carrie M Stephan; Karla S Laubenthal; Brenda L Wong; Paula J Morehart; Amy Meyer; Richard S Finkel; Carsten G Bonnemann; Livija Medne; John W Day; Joline C Dalton; Marcia K Margolis; Veronica J Hinton; Robert B Weiss
Journal:  Hum Mutat       Date:  2009-12       Impact factor: 4.878

Review 7.  Mutation-Based Therapeutic Strategies for Duchenne Muscular Dystrophy: From Genetic Diagnosis to Therapy.

Authors:  Akinori Nakamura
Journal:  J Pers Med       Date:  2019-03-04

8.  Survival in Duchenne muscular dystrophy.

Authors:  Susanne Rall; Tiemo Grimm
Journal:  Acta Myol       Date:  2012-10
  8 in total

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