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
Inglês
| MEDLINE | ID: mdl-32294405
2.
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
J Med Genet
; 59(2): 204-208, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33199448
3.
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
Inglês
| MEDLINE | ID: mdl-30245030
4.
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
Inglês
| MEDLINE | ID: mdl-32212285
5.
Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies.
Neuropediatrics
; 50(4): 211-218, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31113002
6.
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
PLoS Genet
; 11(3): e1005050, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25749076
7.
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
Inglês
| MEDLINE | ID: mdl-27206732
8.
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.
J Med Genet
; 50(11): 772-5, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23812912
9.
rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA.
Proc Natl Acad Sci U S A
; 108(3): 1099-103, 2011 Jan 18.
Artigo
Inglês
| MEDLINE | ID: mdl-21199949
10.
Assessment of myelination in hypomyelinating disorders by quantitative MRI.
J Magn Reson Imaging
; 36(6): 1329-38, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22911904
11.
[Unilateral optic atrophy in a 9-year-old patient]. / Einseitige Optikusatrophie bei einem 9-jährigen Patienten.
Ophthalmologe
; 118(4): 399-403, 2021 Apr.
Artigo
Alemão
| MEDLINE | ID: mdl-32613256
12.
A novel remitting leukodystrophy associated with a variant in FBP2.
Brain Commun
; 3(2): fcab036, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33977262
13.
Interferon-driven brain phenotype in a mouse model of RNaseT2 deficient leukoencephalopathy.
Nat Commun
; 12(1): 6530, 2021 11 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34764281
14.
Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia.
Biol Open
; 9(5)2020 05 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32295832
15.
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Biomedicines
; 8(11)2020 Oct 28.
Artigo
Inglês
| MEDLINE | ID: mdl-33126500
16.
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.
Eur J Paediatr Neurol
; 20(4): 604-10, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-27091087
17.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 48(10): 1185-92, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27571260
18.
Identification of ten novel mutations in patients with eIF2B-related disorders.
Hum Mutat
; 25(4): 411, 2005 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-15776425
19.
Phenotypic and molecular insights into CASK-related disorders in males.
Orphanet J Rare Dis
; 10: 44, 2015 Apr 12.
Artigo
Inglês
| MEDLINE | ID: mdl-25886057
20.
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
Hum Mutat
; 22(5): 417, 2003 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-14517957