Duchenne Muscular Dystrophy
Last Posted: Oct 29, 2020
- Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations.
Lloyd-Puryear Michele A et al. International journal of neonatal screening 2018 Mar 4(1) 6
- American Academy of Pediatrics Duchenne Muscular Dystrophy Education Series
- Overview of Gene Therapy in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy.
Abreu Nicolas J et al. Pediatric pulmonology 2020 Sep
- Open communication of Duchenne muscular dystrophy facilitates disclosure process by parents to unaffected siblings.
Sulmonte Laura A G et al. Journal of genetic counseling 2020 Jul
- [Clinical Ethics in Hereditary Neuromuscular Diseases such as Duchenne Muscular Dystrophy].
Nakajima Takashi et al. Brain and nerve = Shinkei kenkyu no shinpo 2020 Jul 72(7) 753-766
- Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.
Kumar Shalini H et al. PloS one 2020 15(6) e0232654
- Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy- A Nonrandomized Controlled Trial
JR Mendell et al, JAMA Neurology, June 15, 2020
- Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing.
Mah May Ling et al. International journal of cardiology 2020 May
- Duchenne Muscular Dystrophy- Where Genetic Testing is Inevitable and Vital!
Gupta Ambika et al. Indian journal of pediatrics 2020 May
- Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.
Winder Thomas L et al. Neurology. Genetics 2020 Apr 6(2) e412
- Duchenne Muscular Dystrophy Education Series
American Academy of Pediatrics
- [Clinical practice guidelines for Duchenne muscular dystrophy].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 258-262
- Is it the right time for an infant screening for Duchenne muscular dystrophy?
Vita Gian Luca et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020 Feb
- Quantitative coordination evaluation for screening children with Duchenne muscular dystrophy.
An Jian et al. Chaos (Woodbury, N.Y.) 2020 Feb 30(2) 023116
- Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.
Yang Yan-Mei et al. Journal of Zhejiang University. Science. B 20(9) 753-765
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
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