Duchenne Muscular Dystrophy
Last Posted: Dec 03, 2020
- Genotype-Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry.
Lim Kenji Rowel Q et al. Journal of personalized medicine 2020 Nov 10(4)
- 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
- 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
- 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
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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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
- Severe Combined Immunodeficiency
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