Detalhe da pesquisa
1.
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.
Ann Hum Genet
; 86(3): 109-118, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927723
2.
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
Brain
; 139(Pt 1): 62-72, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26497905
3.
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Neuromuscul Disord
; 34: 1-8, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38087756
4.
The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia.
Viruses
; 13(5)2021 05 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34065066
5.
COVID-19 in children with neuromuscular disorders.
J Neurol
; 268(9): 3081-3085, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33387010
6.
Cost-minimization analysis in the treatment of spasticity in children with cerebral palsy with botulinum toxin type A: an observational, longitudinal, retrospective study.
Farm Hosp
; 40(5): 412-26, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27570991
7.
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
J Mol Diagn
; 18(2): 225-34, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26752306
8.
[Dissection of vertebral arteries as the cause of acute cerebrovascular events in children]. / Diseccion de arterias vertebrales como causa de evento cerebrovascular agudo en niños.
Rev Neurol
; 62(8): 382-3, 2016 Apr 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-27064919