Detalhe da pesquisa
1.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
; 147(4): 1197-1205, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141063
2.
Mutations in TAF8 cause a neurodegenerative disorder.
Brain
; 145(9): 3022-3034, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759269
3.
Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome.
Int J Mol Sci
; 24(14)2023 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511424
4.
Temporal profile of lymphocyte counts and relationship with infections with fingolimod therapy in paediatric patients with multiple sclerosis: Results from the PARADIGMS study.
Mult Scler
; 27(6): 922-932, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32633694
5.
Consistent control of disease activity with fingolimod versus IFN ß-1a in paediatric-onset multiple sclerosis: further insights from PARADIGMS.
J Neurol Neurosurg Psychiatry
; 91(1): 58-66, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31467033
6.
Therapy of highly active pediatric multiple sclerosis.
Mult Scler
; 25(1): 72-80, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28933245
7.
Extensive acute axonal damage in pediatric multiple sclerosis lesions.
Ann Neurol
; 77(4): 655-67, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25612167
8.
Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.
BMC Neurol
; 16: 74, 2016 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27206732
9.
Age-Dependent Seroprevalence of JCV Antibody in Children.
Neuropediatrics
; 47(2): 112-4, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26479766
10.
Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.
Nature
; 525(7570): 552, 2015 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26176914
11.
Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.
Nature
; 521(7552): E1-4, 2015 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25993969
12.
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Am J Hum Genet
; 90(1): 61-8, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22243965
13.
JC virus antibody status in a pediatric multiple sclerosis cohort: prevalence, conversion rate and influence on disease severity.
Mult Scler
; 21(4): 382-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25070674
14.
Chemokine-mediated redirection of T cells constitutes a critical mechanism of glucocorticoid therapy in autoimmune CNS responses.
Acta Neuropathol
; 127(5): 713-29, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24488308
15.
Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data.
Mol Genet Metab Rep
; 38: 101053, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469086
16.
Acute disseminated encephalomyelitis followed by recurrent or monophasic optic neuritis in pediatric patients.
Mult Scler
; 19(7): 941-6, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23128668
17.
MOG Antibodies in Pediatric Neurology.
Neuropediatrics
; 49(1): 1-2, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28915516
18.
Therapeutic apheresis in pediatric patients with acute CNS inflammatory demyelinating disease.
Blood Purif
; 36(2): 92-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24021839
19.
Pretreatment Neurofilament Light Chain Serum Levels, Early Disease Severity, and Treatment Response in Pediatric Multiple Sclerosis.
Neurology
; 101(19): e1873-e1883, 2023 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37748882
20.
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
Hum Mutat
; 33(8): 1207-15, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22508683