Detalhe da pesquisa
1.
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Mov Disord
; 2024 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581205
2.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brain
; 145(11): 3816-3831, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35696452
3.
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
Am J Hum Genet
; 98(4): 735-43, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058446
4.
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
5.
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
6.
Neurological manifestations of influenza infection in children and adults: results of a National British Surveillance Study.
Clin Infect Dis
; 58(6): 775-84, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24352349
7.
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype.
J Clin Immunol
; 39(3): 249-256, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30949876
8.
Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.
Dev Med Child Neurol
; 54(4): 376-9, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22150413
9.
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.
Neuromuscul Disord
; 31(4): 359-366, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33558124
10.
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
11.
Parental and physician beliefs regarding the provision and content of written sudden unexpected death in epilepsy (SUDEP) information.
Epilepsia
; 51(5): 777-82, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20067505
12.
Presumed perinatal stroke in a child with Down syndrome and moyamoya disease.
Dev Med Child Neurol
; 52(2): 212-4, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19583743
13.
Variations in the management of children with cerebral venous sinus thrombosis in the UK and Ireland.
Dev Med Child Neurol
; 54(8): 770-1, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22221070
14.
Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation.
J Clin Sleep Med
; 13(11): 1359-1362, 2017 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28992836
15.
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Pediatr Neurol
; 66: 59-62, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27843092
16.
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.
Neurol Genet
; 2(2): e59, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27123478
17.
Spontaneous Dissecting Lenticulostriate Artery Aneurysm in Children: Radiologic Findings and Clinical Management.
J Child Neurol
; 30(8): 1060-4, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25080469
18.
Experience of mechanical thrombectomy for paediatric arterial ischaemic stroke.
Eur J Paediatr Neurol
; 18(6): 730-5, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25135471
19.
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Nat Genet
; 46(2): 188-93, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24336167
20.
Cogan's syndrome: a rare cause of meningoencephalitis.
J Child Neurol
; 24(6): 753-7, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19491118