Detalhe da pesquisa
1.
Fifteen-minute consultation: Approach to a child with congenital insensitivity to pain.
Arch Dis Child Educ Pract Ed
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38688704
2.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Ann Neurol
; 88(2): 332-347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403198
3.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029936
4.
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Ann Neurol
; 86(2): 310-315, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187502
5.
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
6.
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Hum Mutat
; 38(8): 970-977, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544275
7.
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Brain
; 137(Pt 1): 44-56, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24253200
8.
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain.
J Neuromuscul Dis
; 11(2): 361-368, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38189761
9.
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.
Lancet Reg Health Eur
; 37: 100817, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38169987
10.
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.
Dev Med Child Neurol
; 55(2): 154-161, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23163885
11.
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Hum Mutat
; 33(6): 981-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22473935
12.
Sustained response to intrathecal rituximab in EBV associated Post-transplant lymphoproliferative disease confined to the central nervous system following haematopoietic stem cell transplant.
Pediatr Blood Cancer
; 58(3): 459-61, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21584931
13.
Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy.
Arch Dis Child
; 107(2): 160-165, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244165
14.
The Phenotypic Continuum of ATP1A3-Related Disorders.
Neurology
; 99(14): e1511-e1526, 2022 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36192182
15.
Thymectomy for inducing remission in juvenile myasthenia gravis.
Pediatr Surg Int
; 27(6): 591-4, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21243366
16.
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.
Neuromuscul Disord
; 31(1): 21-28, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33250374
17.
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.
Mol Genet Metab
; 100(2): 207-12, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20226704
18.
X-Linked Myotubular Myopathy and Duchenne Muscular Dystrophy in a Preterm Infant: A Rare Combination.
Pediatrics
; 146(3)2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32826339
19.
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.
Arch Dis Child
; 105(4): 332-338, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31484632
20.
A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet.
Clin Pharmacol Drug Dev
; 8(7): 922-933, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30650257