Genetic profile of Brazilian patients with dystrophinopathies-Reference-Cited by-同舟云学术

Genetic profile of Brazilian patients with dystrophinopathies

Published:2017-02-22 Issue:2 Volume:92 Page:199-203
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

de Almeida P.A.D.¹,Machado-Costa M.C.²,Manzoli G.N.²,Ferreira L.S.¹,Rodrigues M.C.S.³,Bueno L.S.M.²⁴,Saute J.A.M.⁵,Pinto Vairo F.⁵,Matte U.S.⁵⁶,Siebert M.⁵⁶,Cossio S.L.⁵⁶,Macedo G.S.⁵,Winckler P.B.⁷,Becker M.M.⁸,Magalhães L.V.B.⁹,Gonçalves M.V.M.¹⁰,Marrone C.D.¹¹,Nucci A.¹,França M.C.¹

Affiliation:

1. Department of Neurology, School of Medical Sciences; University of Campinas - UNICAMP; Campinas Brazil

2. University Hospital Professor Edgard Santos; Federal University of Bahia (UFBA); Salvador Brazil

3. Specialized Health Care Unit for Children and Adolescents; University Hospital Cassiano Antonio Moraes, Federal University of Espírito Santo (UFES); Vitória Brazil

4. Hospital Infantil Nossa Senhora da Glória; Vitória Brazil

5. Medical Genetics Service; Hospital de Clínicas de Porto Alegre (HCPA); Porto Alegre Brazil

6. Molecular and Protein Analysis Unit; Hospital de Clínicas de Porto Alegre, Experimental Research Center; Porto Alegre Brazil

7. Neurology Service; Hospital de Clínicas de Porto Alegre (HCPA); Porto Alegre Brazil

8. Neuropediatrics Unit; Hospital de Clínicas de Porto Alegre (HCPA); Porto Alegre Brazil

9. Federal University of Viçosa (UFV); Viçosa Brazil

10. University of Joinville (UNIVILLE); Joinville Brazil

11. Clínica Marrone; Porto Alegre Brazil

Funder

Parametric Technology Corporation

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12975/fullpdf

Reference22 articles.

1. Dystrophin: the protein product of the Duchenne muscular dystrophy locus;Hoffman;Cell,1987

2. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, pharmacologic and psychosocial management;Bushby;Lancet Neurol,2010

3. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I natural history;Bushby;J Neurol,1993

4. Evidence-based path to newborns screening for Duchenne muscular dystrophy;Mendell;Ann Neurol,2012

5. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations;Bladen;Hum Mutat,2015

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