Detalhe da pesquisa
1.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med
; 26(2): 101023, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37947183
2.
Walking activity in a large cohort of boys with Duchenne muscular dystrophy.
Muscle Nerve
; 63(2): 192-198, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33188573
3.
Upper and Lower Extremities in Duchenne Muscular Dystrophy Evaluated with Quantitative MRI and Proton MR Spectroscopy in a Multicenter Cohort.
Radiology
; 295(3): 616-625, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32286193
4.
Natural history of infantile-onset spinal muscular atrophy.
Ann Neurol
; 82(6): 883-891, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29149772
5.
Longitudinal timed function tests in Duchenne muscular dystrophy: ImagingDMD cohort natural history.
Muscle Nerve
; 58(5): 631-638, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29742798
6.
Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.
Mol Ther
; 25(5): 1199-1208, 2017 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28341561
7.
Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort.
Ann Neurol
; 79(4): 535-47, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26891991
8.
Clinical importance of changes in magnetic resonance biomarkers for Duchenne muscular dystrophy.
Ann Clin Transl Neurol
; 11(1): 67-78, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932907
9.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585825
10.
Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance.
J Neuromuscul Dis
; 9(3): 423-436, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35466946
11.
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function.
J Neuromuscul Dis
; 9(2): 289-302, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35124659
12.
Case 3: Episodic Weakness in an 18-month-old Girl.
Pediatr Rev
; 37(5): 218-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27139332
13.
Disease-modifying effects of edasalonexent, an NF-κB inhibitor, in young boys with Duchenne muscular dystrophy: Results of the MoveDMD phase 2 and open label extension trial.
Neuromuscul Disord
; 31(5): 385-396, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33678513
14.
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial.
J Neuromuscul Dis
; 8(5): 769-784, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34120912
15.
Modeling disease trajectory in Duchenne muscular dystrophy.
Neurology
; 94(15): e1622-e1633, 2020 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32184340
16.
MR biomarkers predict clinical function in Duchenne muscular dystrophy.
Neurology
; 94(9): e897-e909, 2020 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32024675
17.
Phase 1 Study of Edasalonexent (CAT-1004), an Oral NF-κB Inhibitor, in Pediatric Patients with Duchenne Muscular Dystrophy.
J Neuromuscul Dis
; 6(1): 43-54, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30452422
18.
Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.
Am J Ophthalmol Case Rep
; 10: 244-248, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29780943
19.
Skeletal muscle magnetic resonance biomarkers correlate with function and sentinel events in Duchenne muscular dystrophy.
PLoS One
; 13(3): e0194283, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29554116
20.
Two-Year Longitudinal Changes in Lower Limb Strength and Its Relation to Loss in Function in a Large Cohort of Patients With Duchenne Muscular Dystrophy.
Am J Phys Med Rehabil
; 97(10): 734-740, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29734234