Detalhe da pesquisa
1.
Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors.
J Genet Couns
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38682751
2.
Web-Based Mindfulness-Based Interventions for Well-being: Randomized Comparative Effectiveness Trial.
J Med Internet Res
; 24(9): e35620, 2022 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36094813
3.
Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors.
Muscle Nerve
; 61(1): 36-43, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31573675
4.
Chart validation of an algorithm for identifying hereditary progressive muscular dystrophy in healthcare claims.
BMC Med Res Methodol
; 19(1): 174, 2019 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31399066
5.
DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.
Hum Mutat
; 39(9): 1193-1202, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907980
6.
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
J Pediatr
; 204: 305-313.e14, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30579468
7.
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.
J Neuromuscul Dis
; 11(2): 499-523, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38363616
8.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat
; 33(1): 165-79, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21948486
9.
Associations Between Self-Reported Behavioral and Learning Concerns and DMD Isoforms in Duchenne Muscular Dystrophy.
J Neuromuscul Dis
; 9(6): 757-764, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245385
10.
Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review.
J Neuromuscul Dis
; 7(3): 217-229, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32417793
11.
Evaluating Implementation of the Updated Care Considerations for Duchenne Muscular Dystrophy.
Pediatrics
; 142(Suppl 2): S118-S128, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275256
12.
DuchenneConnect Registry Report.
PLoS Curr
; 4: RRN1309, 2012 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-22453902