Literature DB >> 7849724

Novel small mutations along the DMD/BMD gene associated with different phenotypes.

V Nigro1, G Nigro, M G Esposito, L I Comi, A M Molinari, G A Puca, L Politano.   

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Year:  1994        PMID： 7849724     DOI： 10.1093/hmg/3.10.1907

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  9 in total

1.  Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.

Authors:  Maryam Haghshenas; Mohammad Taghi Akbari; Shohreh Zare Karizi; Faravareh Khordadpoor Deilamani; Shahriar Nafissi; Zivar Salehi
Journal:  J Genet       Date:  2016-06       Impact factor: 1.166

2.  The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

Authors:  A J van Essen; A L Kneppers; A H van der Hout; H Scheffer; I B Ginjaar; L P ten Kate; G J van Ommen; C H Buys; E Bakker
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

3.  Spectrum of small mutations in the dystrophin coding region.

Authors:  T W Prior; C Bartolo; D K Pearl; A C Papp; P J Snyder; M S Sedra; A H Burghes; J R Mendell
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

4.  New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

Authors:  Rosário Santos; Ana Gonçalves; Jorge Oliveira; Emília Vieira; José Pedro Vieira; Teresinha Evangelista; Teresa Moreno; Manuela Santos; Isabel Fineza; Elsa Bronze-da-Rocha
Journal:  J Hum Genet       Date:  2014-07-10       Impact factor: 3.172

5.  Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.

Authors:  Saketh Kapoor; Parayil Sankaran Bindu; Arun B Taly; Sanjib Sinha; Narayanappa Gayathri; S Vasantha Rani; Giriraj Ratan Chandak; Arun Kumar
Journal:  Mol Vis       Date:  2012-07-20       Impact factor: 2.367

6.  Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.

Authors:  Aurélie Nicolas; Céline Lucchetti-Miganeh; Rabah Ben Yaou; Jean-Claude Kaplan; Jamel Chelly; France Leturcq; Frédérique Barloy-Hubler; Elisabeth Le Rumeur
Journal:  Orphanet J Rare Dis       Date:  2012-07-09       Impact factor: 4.123

7.  Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.

Authors:  Eugenio Mercuri; Francesco Muntoni; Andrés Nascimento Osorio; Már Tulinius; Filippo Buccella; Lauren P Morgenroth; Heather Gordish-Dressman; Joel Jiang; Panayiota Trifillis; Jin Zhu; Allan Kristensen; Claudio L Santos; Erik K Henricson; Craig M McDonald; Isabelle Desguerre
Journal:  J Comp Eff Res       Date:  2020-01-30       Impact factor: 1.744

8.  Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients.

Authors:  Luigia Passamano; Antonella Taglia; Alberto Palladino; Emanuela Viggiano; Paola D'Ambrosio; Marianna Scutifero; Maria Rosaria Cecio; Vito Torre; Francesco DE Luca; Esther Picillo; Orlando Paciello; Giulio Piluso; Gerardo Nigro; Luisa Politano
Journal:  Acta Myol       Date:  2012-10

9.  Analyses of the differentiation potential of satellite cells from myoD-/-, mdx, and PMP22 C22 mice.

Authors:  Marion M Schuierer; Christopher J Mann; Heidi Bildsoe; Clare Huxley; Simon M Hughes
Journal:  BMC Musculoskelet Disord       Date:  2005-03-11       Impact factor: 2.362
  9 in total

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