Detalhe da pesquisa
1.
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Mol Genet Metab
; 142(1): 108349, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458124
2.
Evolution of brain MRI lesions in paediatric myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and its relevance to disease course.
J Neurol Neurosurg Psychiatry
; 95(5): 426-433, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979966
3.
International Prevalence and Mechanisms of SARS-CoV-2 in Childhood Arterial Ischemic Stroke During the COVID-19 Pandemic.
Stroke
; 53(8): 2497-2503, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35380052
4.
Isolated central nervous system familial hemophagocytic lymphohistiocytosis (fHLH) presenting as a mimic of demyelination in children.
Mult Scler
; 28(4): 669-675, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34704499
5.
T2-highlighted U-fibres and rapid parenchymal volume loss in AESD: An under-recognised subtype of paediatric acute encephalopathy syndromes.
J Neuroradiol
; 47(6): 458-463, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31589888
6.
Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet
; 55(8): 515-521, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29602790
7.
Fifteen-minute consultation: A practical approach to developmental regression in children.
Arch Dis Child Educ Pract Ed
; 104(4): 173-177, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181142
8.
First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy.
Eye (Lond)
; 38(6): 1176-1182, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38049626
9.
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
Orphanet J Rare Dis
; 19(1): 46, 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38326898
10.
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Eur J Paediatr Neurol
; 49: 141-154, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38554683
11.
A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead.
JIMD Rep
; 64(5): 346-352, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37701322
12.
Expanding the phenotypic spectrum of pathogenic variants in the PRRT2 gene: bilateral papilledema and abducens nerve palsies secondary to pseudotumor cerebri syndrome.
J AAPOS
; 25(6): 364-366, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478843
13.
Two Paediatric Patients with Encephalopathy and Concurrent COVID-19 Infection: Two Sides of the Same Coin?
Case Rep Neurol Med
; 2021: 6658000, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833883
14.
Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study.
Lancet Child Adolesc Health
; 5(3): 167-177, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33338439
15.
Use of Disease-Modifying Therapies in Pediatric Relapsing-Remitting Multiple Sclerosis in the United Kingdom.
Neurol Neuroimmunol Neuroinflamm
; 8(4)2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34021056
16.
Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study.
Lancet Child Adolesc Health
; 5(9): 631-641, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273304
17.
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Seizure
; 88: 60-72, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33831796
18.
Challenges of implementation of the RCPCH paediatric stroke guidelines (acute management component) and how they can be overcome.
Arch Dis Child
; 107(7): 635-636, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35012935
19.
The Genetics of Febrile Seizures.
Pediatr Neurol Briefs
; 29(12): 90, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26933546