Detalhe da pesquisa
1.
In Response to: Pediatric Myelodysplastic Syndrome with Germline RRAS Mutation: Expanding the Phenotype of RASopathies.
J Pediatr Hematol Oncol
; 44(2): 69, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34935735
2.
T2 relaxation times are increased in Skeletal muscle of DMD but not BMD patients.
Muscle Nerve
; 53(1): 38-43, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847364
3.
Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.
Muscle Nerve
; 53(1): 44-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900853
4.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Hum Mutat
; 36(4): 395-402, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604253
5.
Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy.
Ann Neurol
; 76(3): 403-11, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25043804
6.
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.
J Neurol Neurosurg Psychiatry
; 86(10): 1060-5, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25476005
7.
DMD transcript imbalance determines dystrophin levels.
FASEB J
; 27(12): 4909-16, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23975932
8.
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Hum Mutat
; 34(11): 1449-57, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913485
9.
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
J Neuromuscul Dis
; 4(4): 293-306, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29125504
10.
[Experimental therapy in Duchenne muscular dystrophy]. / Experimentele therapie bij duchenne-spierdystrofie.
Ned Tijdschr Geneeskd
; 153(18): 870-5, 2009 May 02.
Artigo
em Holandês
| MEDLINE | ID: mdl-19475867
11.
Age-related longitudinal changes in metabolic energy expenditure during walking in boys with Duchenne muscular dystrophy.
PLoS One
; 9(12): e115200, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25506914