Literature DB >> 23791627

195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14-16th December, 2012, Naarden, The Netherlands.

Juliet A Ellis1, Elizabeth Vroom, Francesco Muntoni.   

Abstract

Entities:  

Mesh：

Year:  2013        PMID： 23791627     DOI： 10.1016/j.nmd.2013.05.008

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  16 in total

Review 1.  Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.

Authors:  David J Birnkrant; Katharine Bushby; Carla M Bann; Susan D Apkon; Angela Blackwell; David Brumbaugh; Laura E Case; Paula R Clemens; Stasia Hadjiyannakis; Shree Pandya; Natalie Street; Jean Tomezsko; Kathryn R Wagner; Leanne M Ward; David R Weber
Journal:  Lancet Neurol       Date:  2018-02-03       Impact factor: 44.182

2.  Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system.

Authors:  Valeria Ricotti; Herbert Jägle; Maria Theodorou; Anthony T Moore; Francesco Muntoni; Dorothy A Thompson
Journal:  Eur J Hum Genet       Date:  2015-06-17       Impact factor: 4.246

3.  Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy.

Authors:  Marianela Schiava; Rachel Amos; Henriette VanRuiten; Michael P McDermott; Williams B Martens; Stephanie Gregory; Anna Mayhew; Elaine McColl; Rabi Tawil; Tracey Willis; Kate Bushby; Robert C Griggs; Michela Guglieri
Journal:  Neurology       Date:  2021-12-02       Impact factor: 9.910

4.  Long-Term Efficacy, Safety, and Pharmacokinetics of Drisapersen in Duchenne Muscular Dystrophy: Results from an Open-Label Extension Study.

Authors:  Nathalie M Goemans; Már Tulinius; Marleen van den Hauwe; Anna-Karin Kroksmark; Gunnar Buyse; Rosamund J Wilson; Judith C van Deutekom; Sjef J de Kimpe; Afrodite Lourbakos; Giles Campion
Journal:  PLoS One       Date:  2016-09-02       Impact factor: 3.240

5.  Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials.

Authors:  Valeria Ricotti; Matthew R B Evans; Christopher D J Sinclair; Jordan W Butler; Deborah A Ridout; Jean-Yves Hogrel; Ahmed Emira; Jasper M Morrow; Mary M Reilly; Michael G Hanna; Robert L Janiczek; Paul M Matthews; Tarek A Yousry; Francesco Muntoni; John S Thornton
Journal:  PLoS One       Date:  2016-09-20       Impact factor: 3.240

6.  The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials.

Authors:  Valeria Ricotti; Deborah A Ridout; Marika Pane; Marion Main; Anna Mayhew; Eugenio Mercuri; Adnan Y Manzur; Francesco Muntoni
Journal:  J Neurol Neurosurg Psychiatry       Date:  2015-03-02       Impact factor: 10.154

7.  Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy.

Authors:  Courtney A Bishop; Valeria Ricotti; Christopher D J Sinclair; Matthew R B Evans; Jordan W Butler; Jasper M Morrow; Michael G Hanna; Paul M Matthews; Tarek A Yousry; Francesco Muntoni; John S Thornton; Rexford D Newbould; Robert L Janiczek
Journal:  Front Neurol       Date:  2018-01-26       Impact factor: 4.003

8.  Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.

Authors:  A Lourbakos; N Yau; P de Bruijn; M Hiller; K Kozaczynska; R Jean-Baptiste; M Reza; R Wolterbeek; Z Koeks; B Ayoglu; D de Klerk; G Campion; I Zaharieva; V D Nadarajah; P Nilsson; C Al-Khalili Szigyarto; F Muntoni; H Lochmüller; J J Verschuuren; N Goemans; M Tulinius; E H Niks; S de Kimpe; A Aartsma-Rus; Peter A C 't Hoen; P Spitali
Journal:  Sci Rep       Date:  2017-12-20       Impact factor: 4.379

Review 9.  Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy.

Authors:  Jedrzej Burakiewicz; Christopher D J Sinclair; Dirk Fischer; Glenn A Walter; Hermien E Kan; Kieren G Hollingsworth
Journal:  J Neurol       Date:  2017-07-01       Impact factor: 4.849

Review 10.  Splice-switching antisense oligonucleotides as therapeutic drugs.

Authors:  Mallory A Havens; Michelle L Hastings
Journal:  Nucleic Acids Res       Date:  2016-06-10       Impact factor: 16.971
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