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.
Combination molecular therapies for type 1 spinal muscular atrophy.
Muscle Nerve
; 62(4): 550-554, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710634
3.
The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic.
Muscle Nerve
; 62(1): 41-45, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32329920
4.
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
5.
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.
Am J Med Genet A
; 179(7): 1270-1275, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31148362
6.
Predicting outcomes for spinal muscular atrophy: When the diagnosis no longer means what it used to mean.
Br J Clin Pharmacol
; 90(2): 613-614, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37997484
7.
Palliative care in Duchenne muscular dystrophy: Goals of care discussions and beyond.
Muscle Nerve
; 65(6): 627-629, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35362613
8.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917586
9.
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
10.
Eculizumab in Adolescent Patients With Refractory Generalized Myasthenia Gravis: A Phase 3, Open-Label, Multicenter Study.
Pediatr Neurol
; 156: 198-207, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38810600
11.
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
Neurology
; 102(5): e208112, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38335499
12.
Symptomatic cerebral vasospasm following resection of a medulloblastoma in a child.
Neurocrit Care
; 18(1): 84-8, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22911499
13.
Measuring the Efficacy of Thymectomy for Pediatric Myasthenia Gravis Across Tertiary Children's Hospitals.
Pediatr Neurol
; 148: 17-22, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37651972
14.
Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.
BMC Med Genomics
; 16(1): 278, 2023 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932750
15.
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen.
J Neuromuscul Dis
; 10(3): 337-348, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36872785
16.
Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study.
J Neuromuscul Dis
; 10(3): 439-447, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005891
17.
An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy.
Ann Clin Transl Neurol
; 9(6): 810-818, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567422
18.
Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy.
J Neuromuscul Dis
; 9(4): 493-501, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35634851
19.
Utility of Repetitive Nerve Stimulation in Myopathies.
Pediatr Neurol Briefs
; 34: 4, 2020 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32174747
20.
Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial.
JAMA Neurol
; 77(8): 982-991, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32453377