Detalhe da pesquisa
1.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Am J Hum Genet
; 110(5): 774-789, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054711
2.
Diagnostic algorithm for children presenting with epilepsia partialis continua.
Epilepsia
; 61(10): 2224-2233, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875551
3.
Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genet Med
; 21(4): 1027, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30228318
4.
Fifteen-minute consultation: Management of primary headaches in children.
Arch Dis Child Educ Pract Ed
; 2023 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37164483
5.
Treatment of disabling headache with greater occipital nerve injections in a large population of childhood and adolescent patients: a service evaluation.
J Headache Pain
; 19(1): 5, 2018 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29340791
6.
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genet Med
; 19(11): 1217-1225, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28471437
7.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917586
8.
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
Am J Hum Genet
; 92(5): 774-80, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23643384
9.
Radiologic Improvement After Early Medical Intervention in Localised Facial Morphea.
Pediatr Dermatol
; 33(2): e95-8, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26860318
10.
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Brain
; 136(Pt 2): 536-48, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23361065
11.
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
Neuropediatrics
; 45(3): 175-82, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24407470
12.
Extended Phenotyping of Migraine in Children: A Cross-Sectional Study in a Specialist Children's Headache Clinic.
Pediatr Neurol
; 156: 33-40, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38718550
13.
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
14.
Central nervous system aspergillosis resembling haemorrhagic brain infarct in a paediatric leukaemia patient.
Br J Haematol
; 178(4): 642-645, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27353525
15.
Safety and efficacy of flunarizine in childhood migraine: 11 years' experience, with emphasis on its effect in hemiplegic migraine.
Dev Med Child Neurol
; 54(3): 274-7, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22268377
16.
Phenotypic spectrum associated with CASK loss-of-function mutations.
J Med Genet
; 48(11): 741-51, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21954287
17.
Headache in Children and Adolescents: A Focus on Uncommon Headache Disorders.
Indian Pediatr
; 58(8): 757-764, 2021 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34465659
18.
Post-licensure observational safety study after meningococcal B vaccine 4CMenB (Bexsero) vaccination within the routine UK immunisation program.
Vaccine
; 39(24): 3296-3303, 2021 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33962840
19.
A recent surge of fulminant and early onset subacute sclerosing panencephalitis (SSPE) in the United Kingdom: An emergence in a time of measles.
Eur J Paediatr Neurol
; 34: 43-49, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34388650
20.
Headache outcomes in children undergoing foramen magnum decompression for Chiari I malformation.
Arch Dis Child
; 102(3): 238-243, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28052881