Detalhe da pesquisa
1.
Immune Sensing of Synthetic, Bacterial, and Protozoan RNA by Toll-like Receptor 8 Requires Coordinated Processing by RNase T2 and RNase 2.
Immunity
; 52(4): 591-605.e6, 2020 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32294405
2.
Folate receptor α deficiency - Myelin-sensitive MRI as a reliable biomarker to monitor the efficacy and long-term outcome of a new therapeutic approach.
J Inherit Metab Dis
; 47(2): 387-403, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38200656
3.
CSF and venous blood flow from childhood to adulthood studied by real-time phase-contrast MRI.
Childs Nerv Syst
; 40(5): 1377-1388, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38206441
4.
Mutations in TAF8 cause a neurodegenerative disorder.
Brain
; 145(9): 3022-3034, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759269
5.
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
J Med Genet
; 59(2): 204-208, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199448
6.
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
7.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Am J Med Genet A
; 188(9): 2652-2665, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670379
8.
Efficacy and safety of ofatumumab in recently diagnosed, treatment-naive patients with multiple sclerosis: Results from ASCLEPIOS I and II.
Mult Scler
; 28(10): 1562-1575, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266417
9.
Concurrent axon and myelin destruction differentiates X-linked adrenoleukodystrophy from multiple sclerosis.
Glia
; 69(10): 2362-2377, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34137074
10.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Am J Hum Genet
; 103(4): 592-601, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245030
11.
Trial of Fingolimod versus Interferon Beta-1a in Pediatric Multiple Sclerosis.
N Engl J Med
; 379(11): 1017-1027, 2018 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30207920
12.
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
13.
Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1tm1Kds mice and X-linked adrenoleukodystrophy patients.
J Inherit Metab Dis
; 44(5): 1174-1185, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33855724
14.
Hydrocephalus Revisited: New Insights into Dynamics of Neurofluids on Macro- and Microscales.
Neuropediatrics
; 52(4): 233-241, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34192788
15.
The failure of microglia to digest developmental apoptotic cells contributes to the pathology of RNASET2-deficient leukoencephalopathy.
Glia
; 68(7): 1531-1545, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32212285
16.
Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.
Neurobiol Dis
; 143: 105012, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32653672
17.
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
18.
Effect of fingolimod on MRI outcomes in patients with paediatric-onset multiple sclerosis: results from the phase 3 PARADIGMS study.
J Neurol Neurosurg Psychiatry
; 91(5): 483-492, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32132224
19.
Genetics of intellectual disability in consanguineous families.
Mol Psychiatry
; 24(7): 1027-1039, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29302074
20.
Inborn errors of metabolism leading to neuronal migration defects.
J Inherit Metab Dis
; 43(1): 145-155, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31747049