Detalhe da pesquisa
1.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216551
2.
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
3.
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
Am J Med Genet A
; 161A(4): 711-6, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23494996
4.
Leukodystrophies.
Adv Exp Med Biol
; 724: 154-71, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22411242
5.
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA Neurol
; 79(10): 1005-1014, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36036925
6.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
JAMA Neurol
; 78(10): 1236-1248, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34459874
7.
Inpatient rehabilitation admission for a patient with spinal muscular atrophy status post gene therapy.
PM R
; 15(10): 1361-1362, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36655390
8.
Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup.
J Child Neurol
; 29(4): 487-92, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23576414
9.
Childhood Graves disease masquerading as myasthenia gravis.
J Child Neurol
; 28(10): 1309-11, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22952313
10.
Response to Eculizumab in Escherichia coli O157: H7-induced hemolytic uremic syndrome with severe neurological manifestations.
Clin Pediatr (Phila)
; 54(4): 387-9, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24817079