Literature DB >> 26697447

Determinants of the incidence of Duchenne muscular dystrophy.

Alan Edmund Stark1.   

Abstract

Duchenne muscular dystrophy (DMD), an X-linked disorder, is the most common muscular dystrophy with an incidence in boys of about 200 per million births. It presents in early childhood leading to death in early teens. Its relatively high incidence and severity have stimulated many studies from epidemiological to curative. Recent advances in molecular biology have opened up the possibility of carrier identification and potential reduction of the incidence of cases. This paper gives a population genetics model which can be used to predict the reduction in incidence.

Entities:  

Keywords:  Duchenne muscular dystrophy (DMD); incidence; mutation

Year:  2015        PMID: 26697447      PMCID: PMC4671860          DOI: 10.3978/j.issn.2305-5839.2015.10.45

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN: 2305-5839


  6 in total

1.  Missed opportunities for duchenne muscular dystrophy.

Authors:  Petra Kaufmann
Journal:  J Pediatr       Date:  2009-09       Impact factor: 4.406

Review 2.  Duchenne muscular dystrophy.

Authors:  Eppie M Yiu; Andrew J Kornberg
Journal:  J Paediatr Child Health       Date:  2015-03-09       Impact factor: 1.954

3.  Incidence of Duchenne muscular dystrophy in New South Wales and Australian Capital Territory.

Authors:  J Cowan; J Macdessi; A Stark; G Morgan
Journal:  J Med Genet       Date:  1980-08       Impact factor: 6.318

4.  Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).

Authors:  Stuart J Moat; Donald M Bradley; Rachel Salmon; Angus Clarke; Louise Hartley
Journal:  Eur J Hum Genet       Date:  2013-01-23       Impact factor: 4.246

5.  Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

Authors:  Emma Ciafaloni; Deborah J Fox; Shree Pandya; Christina P Westfield; Soman Puzhankara; Paul A Romitti; Katherine D Mathews; Timothy M Miller; Dennis J Matthews; Lisa A Miller; Christopher Cunniff; Charlotte M Druschel; Richard T Moxley
Journal:  J Pediatr       Date:  2009-04-25       Impact factor: 4.406

6.  Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families.

Authors:  C R Müller; T Grimm
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

  6 in total
  11 in total

1.  Human Dystrophin Structural Changes upon Binding to Anionic Membrane Lipids.

Authors:  Raphael Dos Santos Morais; Olivier Delalande; Javier Pérez; Dominique Mias-Lucquin; Mélanie Lagarrigue; Anne Martel; Anne-Elisabeth Molza; Angélique Chéron; Céline Raguénès-Nicol; Thomas Chenuel; Arnaud Bondon; Marie-Sousai Appavou; Elisabeth Le Rumeur; Sophie Combet; Jean-François Hubert
Journal:  Biophys J       Date:  2018-08-17       Impact factor: 4.033

2.  Ankle-Foot Orthosis in Duchenne Muscular Dystrophy: A 4 year Experience in a Multidisciplinary Neuromuscular Disorders Clinic.

Authors:  Anupam Gupta; Atchayaram Nalini; Shanti Prakash Arya; Seena Vengalil; Meeka Khanna; Rashmi Krishnan; Arun B Taly
Journal:  Indian J Pediatr       Date:  2016-11-05       Impact factor: 1.967

3.  Cathepsin S Contributes to the Pathogenesis of Muscular Dystrophy in Mice.

Authors:  Andoria Tjondrokoesoemo; Tobias G Schips; Michelle A Sargent; Davy Vanhoutte; Onur Kanisicak; Vikram Prasad; Suh-Chin J Lin; Marjorie Maillet; Jeffery D Molkentin
Journal:  J Biol Chem       Date:  2016-03-10       Impact factor: 5.157

4.  Incidence of Duchenne muscular dystrophy in the modern era; an Australian study.

Authors:  Didu Kariyawasam; Arlene D'Silva; David Mowat; Jacqui Russell; Hugo Sampaio; Kristi Jones; Peter Taylor; Michelle Farrar
Journal:  Eur J Hum Genet       Date:  2022-06-27       Impact factor: 4.246

Review 5.  Determining the frequency of sporadic cases of rare X-linked disorders.

Authors:  Alan Edmund Stark
Journal:  Ann Transl Med       Date:  2016-02

Review 6.  Hydrogel biomaterials and their therapeutic potential for muscle injuries and muscular dystrophies.

Authors:  Rachel Lev; Dror Seliktar
Journal:  J R Soc Interface       Date:  2018-01       Impact factor: 4.118

Review 7.  Clinical utility of serum biomarkers in Duchenne muscular dystrophy.

Authors:  Yetrib Hathout; Haeri Seol; Meng Hsuan J Han; Aiping Zhang; Kristy J Brown; Eric P Hoffman
Journal:  Clin Proteomics       Date:  2016-04-05       Impact factor: 3.988

8.  Quantifying the economic impact of caregiving for Duchenne muscular dystrophy (DMD) in Spain.

Authors:  David Flores; María P Ribate; Marisol Montolio; Feliciano J Ramos; Manuel Gómez; Cristina B García
Journal:  Eur J Health Econ       Date:  2020-05-12

9.  Can radial bone mineral density predict spinal bone mineral density in patients with advanced Duchenne muscular dystrophy?

Authors:  Eunyoung Kim; Han Eol Cho; Ji Ho Jung; Jang Woo Lee; Won Ah Choi; Seong-Woong Kang
Journal:  Medicine (Baltimore)       Date:  2018-10       Impact factor: 1.817

Review 10.  The Importance of Biophysical and Biochemical Stimuli in Dynamic Skeletal Muscle Models.

Authors:  Babette Maleiner; Janine Tomasch; Philipp Heher; Oliver Spadiut; Dominik Rünzler; Christiane Fuchs
Journal:  Front Physiol       Date:  2018-08-22       Impact factor: 4.566

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.