Detalhe da pesquisa
1.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33186545
2.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genet Med
; 25(1): 90-102, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318270
3.
How to use lumbar puncture manometry in children.
Arch Dis Child Educ Pract Ed
; 108(5): 340-346, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669865
4.
Cerebrospinal fluid dynamics in pediatric pseudotumor cerebri syndrome.
Childs Nerv Syst
; 36(1): 73-86, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31325030
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.
Coupling of CSF and sagittal sinus pressure in adult patients with pseudotumour cerebri.
Acta Neurochir (Wien)
; 162(5): 1001-1009, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31832847
7.
Sudden onset of lower limb flaccid paralysis.
Arch Dis Child Educ Pract Ed
; 105(2): 101-103, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30478160
8.
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
9.
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
10.
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.
medRxiv
; 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196629
11.
Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.
Mol Genet Genomic Med
; 10(7): e1955, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474314
12.
Clinical features, investigations, and outcomes of pediatric limbic encephalitis: A multicenter study.
Ann Clin Transl Neurol
; 9(1): 67-78, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35015932
13.
Answers to Epilogue questions.
Arch Dis Child Educ Pract Ed
; 101(3): 165, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27194774
14.
Different stroke(s).
Arch Dis Child Educ Pract Ed
; 101(3): 145, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26071419
15.
The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study.
Dev Med Child Neurol
; 52(5): 434-40, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19747204
16.
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Pediatr Neurol
; 112: 94-100, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32446642
17.
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
J Neuropathol Exp Neurol
; 74(7): 688-703, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26083569
18.
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum.
J Child Neurol
; 29(1): 93-5, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23220796
19.
Successful treatment of two paediatric cases of anti-NMDA receptor encephalitis with cyclophosphamide: the need for early aggressive immunotherapy in tumour negative paediatric patients.
Eur J Paediatr Neurol
; 16(1): 74-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21831679