Detalhe da pesquisa
1.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541188
2.
Fifteen-minute consultation: The efficient investigation of infantile and childhood epileptic encephalopathies in the era of modern genomics.
Arch Dis Child Educ Pract Ed
; 107(2): 80-87, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414255
3.
Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
Clin Genet
; 98(2): 147-154, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32385905
4.
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Epilepsia
; 61(5): 995-1007, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32469098
5.
Correlation between the total number of features of paediatric pseudotumour cerebri syndrome and cerebrospinal fluid pressure.
Childs Nerv Syst
; 36(9): 2003-2011, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32123999
6.
Fifteen-minute consultation: Efficient investigation of the child with early developmental impairment in the era of genomic sequencing.
Arch Dis Child Educ Pract Ed
; 105(1): 13-18, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31092397
7.
PEHO syndrome: the endpoint of different genetic epilepsies.
J Med Genet
; 55(12): 803-813, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287594
8.
Rapid developments in paediatric neurology: Keeping up with the patient's voice.
Dev Med Child Neurol
; 65(1): 6, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36462203
9.
Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population-based cohort.
Ann Neurol
; 79(5): 784-793, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26928665
10.
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
J Inherit Metab Dis
; 40(3): 385-394, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28255779
11.
CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
Brain
; 139(Pt 4): 1036-44, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917597
12.
Harnessing the power of neuroimaging and whole genome sequencing from fetus to adulthood.
Dev Med Child Neurol
; 64(1): 5, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897667
13.
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
Biochim Biophys Acta
; 1842(1): 56-64, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24161539
14.
Diagnostic delays in paediatric stroke.
J Neurol Neurosurg Psychiatry
; 86(8): 917-21, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25342203
15.
Idiopathic intracranial hypertension in childhood: pitfalls in diagnosis.
Dev Med Child Neurol
; 56(8): 749-55, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24854011
16.
Consensus recommendations for the assessment and management of idiopathic intracranial hypertension in children and young people.
Arch Dis Child
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38724065
17.
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
Dev Med Child Neurol
; 55(4): 327-34, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23363396
18.
Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial.
Lancet Neurol
; 22(12): 1113-1124, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37977712
19.
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
HGG Adv
; 3(3): 100113, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35586607
20.
Genomics in early infantile epileptic encephalopathies - trials and tribulations.
Dev Med Child Neurol
; 58(1): 15, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365232