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
Inglês
| MEDLINE | ID: mdl-37541188
2.
Do Early Relapses Predict the Risk of Long-Term Relapsing Disease in an Adult and Paediatric Cohort with MOGAD?
Ann Neurol
; 94(3): 508-517, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37394961
3.
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
Inglês
| MEDLINE | ID: mdl-37979966
4.
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Ann Neurol
; 91(1): 117-130, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34716721
5.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Am J Hum Genet
; 104(5): 948-956, 2019 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30982612
6.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Clin Genet
; 102(2): 98-109, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35616059
7.
Early predictors of disability of paediatric-onset AQP4-IgG-seropositive neuromyelitis optica spectrum disorders.
J Neurol Neurosurg Psychiatry
; 93(1): 101-111, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34583946
8.
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
Inglês
| MEDLINE | ID: mdl-34704499
9.
Incidence of paediatric multiple sclerosis and other acquired demyelinating syndromes: 10-year follow-up surveillance study.
Dev Med Child Neurol
; 64(4): 502-508, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34693523
10.
Primary progressive multiple sclerosis presenting under the age of 18 years: Fact or fiction?
Mult Scler
; 27(2): 309-314, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32124676
11.
Opsoclonus-myoclonus in Aicardi-Goutières syndrome.
Dev Med Child Neurol
; 63(12): 1483-1486, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34155623
12.
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
J Clin Immunol
; 40(6): 901-916, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32638196
13.
Improved performance of the 2017 McDonald criteria for diagnosis of multiple sclerosis in children in a real-life cohort.
Mult Scler
; 26(11): 1372-1380, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31317829
14.
Early predictors of epilepsy and subsequent relapse in children with acute disseminated encephalomyelitis.
Mult Scler
; 26(3): 333-342, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30730236
15.
Implementation and Early Evaluation of a Quantitative Electroencephalography Program for Seizure Detection in the PICU.
Pediatr Crit Care Med
; 21(6): 543-549, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32343109
16.
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Am J Hum Genet
; 99(6): 1325-1337, 2016 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27912044
17.
A framework for measurement and harmonization of pediatric multiple sclerosis etiologic research studies: The Pediatric MS Tool-Kit.
Mult Scler
; 25(8): 1170-1177, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29932341
18.
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
J Inherit Metab Dis
; 42(5): 809-817, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31177572
19.
Paediatric multiple sclerosis: a new era in diagnosis and treatment.
Dev Med Child Neurol
; 61(9): 1039-1049, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30932181
20.
Utility and safety of plasma exchange in paediatric neuroimmune disorders.
Dev Med Child Neurol
; 61(5): 540-546, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30659589