Detalhe da pesquisa
1.
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.
Am J Med Genet A
; 194(1): 53-58, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37664979
2.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217308
3.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119330
4.
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Muscle Nerve
; 68(2): 157-170, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37409780
5.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA
; 327(15): 1456-1468, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381069
6.
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.
N Engl J Med
; 378(7): 625-635, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29443664
7.
Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double-blind, placebo-controlled, dose-titration trial.
Muscle Nerve
; 64(3): 285-292, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34105177
8.
Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study.
PLoS Med
; 17(9): e1003222, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32956407
9.
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
N Engl J Med
; 377(18): 1723-1732, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29091570
10.
Combination molecular therapies for type 1 spinal muscular atrophy.
Muscle Nerve
; 62(4): 550-554, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710634
11.
Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement.
Muscle Nerve
; 61(2): 143-155, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31724199
12.
Spinal muscular atrophy care in the COVID-19 pandemic era.
Muscle Nerve
; 62(1): 46-49, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32329921
13.
The CINRG Becker Natural History Study: Baseline characteristics.
Muscle Nerve
; 62(3): 369-376, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32564389
14.
Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy.
Muscle Nerve
; 59(6): 650-657, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706490
15.
Pediatric Cancer Patients' Treatment Journey: Child, Adolescent, and Young Adult Cancer Narratives.
J Pediatr Nurs
; 48: 42-48, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31247408
16.
Natural history of infantile-onset spinal muscular atrophy.
Ann Neurol
; 82(6): 883-891, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29149772
17.
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
Muscle Nerve
; 57(4): 550-560, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29149770
18.
Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug.
Pharmacol Res
; 136: 140-150, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30219580
19.
The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models.
Hum Mol Genet
; 22(20): 4084-101, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23736298
20.
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.
Mol Genet Metab Rep
; 38: 101051, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469093