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Rare Diseases

Last data update: Apr 01, 2023. (Total: 59043 Documents since 2012)
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Query Trace: Duchenne Muscular Dystrophy[original query]>>Original Studies[Product Type]
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.
Sarinya Summa et al. Scientific reports 2023 13(1) 1376
Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements.
Jaxybayeva Altynshash et al. Journal of neuromuscular diseases 2023
Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy.
Ricotti Valeria et al. Nature medicine 2023
High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Çavdarli Büsranur et al. Annals of human genetics 2022
Clinical and genetic characteristics of Chinese Duchenne/Becker muscular dystrophy patients with small mutations.
Gan Siyi et al. Frontiers in neuroscience 2022 16992546
Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot.
Hartnett Michael J et al. International journal of neonatal screening 2022 8(4)
A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2.
Flanigan Kevin M et al. Molecular therapy. Methods & clinical development 2022 2747-60
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study.
Crossnohere Norah L et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care.
Armstrong Niki et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
Incidence of Duchenne muscular dystrophy in the modern era; an Australian study.
Kariyawasam Didu et al. European journal of human genetics : EJHG 2022
Incidence of Duchenne muscular dystrophy in the modern era; an Australian study
D Kariyawasam et al, EJHG, June 27, 2022
Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Paramsothy Pangaja et al. Neuromuscular disorders : NMD 2022
Disease Progression Stages and Burden in Patients with Duchenne Muscular Dystrophy Using Administrative Claims Supplemented by Electronic Medical Records.
Iff Joel et al. Advances in therapy 2022
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Guglieri Michela et al. JAMA 2022
Time to Diagnosis of Duchenne Muscular Dystrophy Remains Unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), 2000-2015.
Thomas Shiny et al. Muscle & nerve 2022
Use of a book to disclose a diagnosis of Duchenne muscular dystrophy to a young child: A pilot study.
Audic F et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021
Implementation of Hospital-Based Supplemental Duchenne Muscular Dystrophy Newborn Screening (sDMDNBS): A Pathway to Broadening Adoption.
Parad Richard B et al. International journal of neonatal screening 2021 7(4)
Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy.
Schiava Marianela et al. Neurology 2021
Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data.
Xiao Tiantian et al. Annals of translational medicine 2021 9(9) 766
Patients' and caregivers' maximum acceptable risk of death for non-curative gene therapy to treat Duchenne muscular dystrophy.
Peay Holly L et al. Molecular genetics & genomic medicine 2021 e1664
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.
Beckers Pablo et al. Scientific reports 2021 Feb 11(1) 3011
Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy
V Himic et al, EJHG, February 9, 2021
Assessment of rAAVrh.74.MHCK7.micro-dystrophin Gene Therapy Using Magnetic Resonance Imaging in Children With Duchenne Muscular Dystrophy
RJ Wilcocks et al, JAMA Network Open, January 4, 2021
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)
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
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
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
Quantitative coordination evaluation for screening children with Duchenne muscular dystrophy.
An Jian et al. Chaos (Woodbury, N.Y.) 2020 Feb 30(2) 023116
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