Literature DB >> 29330543

CUGC for Duchenne muscular dystrophy (DMD).

David J Coote1,2, Mark R Davis3, Macarena Cabrera4, Merrilee Needham5,6, Nigel G Laing1,2,3, Kristen J Nowak7,8,9.   

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Year:  2018        PMID： 29330543      PMCID： PMC5945791          DOI： 10.1038/s41431-017-0013-2

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  66 in total

1.  In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy.

Authors:  Christopher E Nelson; Chady H Hakim; David G Ousterout; Pratiksha I Thakore; Eirik A Moreb; Ruth M Castellanos Rivera; Sarina Madhavan; Xiufang Pan; F Ann Ran; Winston X Yan; Aravind Asokan; Feng Zhang; Dongsheng Duan; Charles A Gersbach
Journal:  Science       Date:  2015-12-31       Impact factor: 47.728

2.  Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies.

Authors:  Nigel G Laing; Mark R Davis; Klair Bayley; Sue Fletcher; Steve D Wilton
Journal:  Clin Biochem Rev       Date:  2011-08

3.  Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

Authors:  Matteo Bovolenta; Chiara Scotton; Maria Sofia Falzarano; Francesca Gualandi; Alessandra Ferlini
Journal:  Hum Mutat       Date:  2012-01-25       Impact factor: 4.878

4.  Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus.

Authors:  A Drousiotou; P Ioannou; T Georgiou; E Mavrikiou; G Christopoulos; T Kyriakides; M Voyasianos; A Argyriou; L Middleton
Journal:  Genet Test       Date:  1998

5.  An effective, low-dosage, intermittent schedule of prednisolone in the long-term treatment of early cases of Duchenne dystrophy.

Authors:  Maria Kinali; Eugenio Mercuri; Marion Main; Francesco Muntoni; Victor Dubowitz
Journal:  Neuromuscul Disord       Date:  2002-10       Impact factor: 4.296

6.  Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authors:  M Koenig; E P Hoffman; C J Bertelson; A P Monaco; C Feener; L M Kunkel
Journal:  Cell       Date:  1987-07-31       Impact factor: 41.582

Review 7.  Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care.

Authors:  Katharine Bushby; Richard Finkel; David J Birnkrant; Laura E Case; Paula R Clemens; Linda Cripe; Ajay Kaul; Kathi Kinnett; Craig McDonald; Shree Pandya; James Poysky; Frederic Shapiro; Jean Tomezsko; Carolyn Constantin
Journal:  Lancet Neurol       Date:  2009-11-27       Impact factor: 44.182

8.  Standards of care for Duchenne muscular dystrophy: brief TREAT-NMD recommendations.

Authors:  Thomas Sejerson; Kate Bushby
Journal:  Adv Exp Med Biol       Date:  2009       Impact factor: 2.622

Review 9.  The importance of genetic diagnosis for Duchenne muscular dystrophy.

Authors:  Annemieke Aartsma-Rus; Ieke B Ginjaar; Kate Bushby
Journal:  J Med Genet       Date:  2016-01-11       Impact factor: 6.318

Review 10.  Duchenne Muscular Dystrophy: From Diagnosis to Therapy.

Authors:  Maria Sofia Falzarano; Chiara Scotton; Chiara Passarelli; Alessandra Ferlini
Journal:  Molecules       Date:  2015-10-07       Impact factor: 4.411
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  1 in total

1.  Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China.

Authors:  Lingrong Kong; Shaojun Li; Zhenhua Zhao; Jun Feng; Guangquan Chen; Lina Liu; Weiqin Tang; Suqing Li; Feifei Li; Xiujuan Han; Di Wu; Haichuan Zhang; Luming Sun; Xiangdong Kong
Journal:  Front Genet       Date:  2021-12-14       Impact factor: 4.599
  1 in total

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