What's New

Last Posted: Aug 08, 2019

• A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy.
  Landfeldt Erik et al. Acta paediatrica (Oslo, Norway : 1992) 2019 Feb 108(2) 224-230
• Is Molecular Diagnosis Necessary for Children with Duchenne Muscular Dystrophy?
  Puri Ratna Dua et al. Indian pediatrics 2019 Jul 56(7) 549-550
• De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.
  König Kirsten et al. Orphanet journal of rare diseases 2019 Jun 14(1) 152
• New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges.
  Ricci Federica et al. Expert review of clinical pharmacology 2019 Jun
• Haplotype-Based noninvasive prenatal diagnosis for duchenne muscular dystrophy: A pilot study in South China.
  Chen Min et al. European journal of obstetrics, gynecology, and reproductive biology 2019 May 24015-22
• Reliability and validity of the Thai version of the Pediatric Quality of Life inventory? 3.0 Duchenne Muscular Dystrophy module in Thai children with Duchenne Muscular Dystrophy.
  Thongsing Apirada et al. Health and quality of life outcomes 2019 May 17(1) 76
• Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.
  Baker Mei et al. JAMA neurology 2019 May
• Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients.
  Paquin Ryan S et al. Orphanet journal of rare diseases 2019 May 14(1) 102
• Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?
  Pereira Aline Chacon et al. Jornal de pediatria 2019 Apr
• [Genetic analysis and prenatal diagnosis of Duchenne or Becker muscular dystrophy].
  Zhao W et al. Zhonghua fu chan ke za zhi 2019 Apr 54(4) 226-231
• Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model.
  Kozareva Velina et al. BMC medical genomics 2018 Oct 11(1) 91
• [Application of next-generation sequencing in the molecular diagnosis of Duchenne muscular dystrophy].
  Tian Pei-Chao et al. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019 Mar 21(3) 244-248
• Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients.
  Zhang Yan et al. Molecular genetics & genomic medicine 2019 Apr e622
• Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy.
  Ke Qing et al. World journal of pediatrics : WJP 2019 Mar
• For Many Boys With Duchenne Muscular Dystrophy, Bright Hope Lies Just Beyond Reach
  G Kolata, New York Times, March 25, 2019