Detalhe da pesquisa
1.
Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice.
Thorax
; 79(5): 476-485, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38123347
2.
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
3.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
4.
Outpatient appointment non-attendance and unplanned health care for children and young people with neurological conditions: a retrospective cohort study.
Dev Med Child Neurol
; 61(7): 840-846, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30370928
5.
Is chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) in children the same condition as in adults?
Dev Med Child Neurol
; 61(4): 490-496, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30146710
6.
Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.
Neuropediatrics
; 49(2): 118-122, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29253910
7.
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
J Med Genet
; 53(11): 768-775, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27412952
8.
Paediatric spinal cord infarction-a review of the literature and two case reports.
Childs Nerv Syst
; 33(4): 671-676, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889817
9.
The prevalence of neuromuscular disease in the paediatric population in Yorkshire, UK; variation by ethnicity and deprivation status.
Dev Med Child Neurol
; 58(8): 877-83, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26968877
10.
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
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.
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
Am J Hum Genet
; 86(3): 485-9, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206331
13.
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Lancet Neurol
; 22(10): 890-899, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37739572
14.
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
Am J Hum Genet
; 84(1): 44-51, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19118815
15.
A cohort study of children and young people with progressive neuromuscular disorders: clinical and demographic profiles and changing patterns of referral for palliative care.
Palliat Med
; 26(7): 924-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21908523
16.
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
17.
Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study.
J Med Econ
; 25(1): 808-816, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35642753
18.
Rituximab in juvenile myasthenia gravis-an international cohort study and literature review.
Eur J Paediatr Neurol
; 40: 5-10, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35835035
19.
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
20.
Bradycardia without associated hypertension: a common sign of ventriculo-peritoneal shunt malfunction.
Childs Nerv Syst
; 27(5): 729-33, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21052696