Detalhe da pesquisa
1.
Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
Mol Genet Metab
; 142(1): 108346, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38368708
2.
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Mol Genet Metab
; 142(1): 108453, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38522179
3.
Nucleotide metabolism, leukodystrophies, and CNS pathology.
J Inherit Metab Dis
; 2024 Feb 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38421058
4.
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.
Ann Rheum Dis
; 81(5): 601-613, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35086813
5.
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).
Mol Genet Metab
; 137(1-2): 26-32, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35878504
6.
Hematologic abnormalities in Aicardi Goutières Syndrome.
Mol Genet Metab
; 136(4): 324-329, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35786528
7.
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.
Mol Genet Metab
; 137(4): 320-327, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36334423
8.
Hepatic Involvement in Aicardi-Goutières Syndrome.
Neuropediatrics
; 52(6): 441-447, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33445189
9.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat
; 41(4): 837-849, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31898846
10.
Development of a neurologic severity scale for Aicardi Goutières Syndrome.
Mol Genet Metab
; 130(2): 153-160, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32279991
11.
Janus Kinase Inhibition in the Aicardi-Goutières Syndrome.
N Engl J Med
; 383(10): 986-989, 2020 09 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32877590
12.
Corrigendum to "Development of a neurologic severity scale for Aicardi Goutières Syndrome" [Mol Genet Metab. 2020 Jun;130(2):153-160. PMID: 32279991].
Mol Genet Metab
; 136(1): 81, 2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-35422341
13.
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Mol Genet Metab
; 122(3): 134-139, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28739201
14.
Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome.
Pediatr Blood Cancer
; 69(1): e29322, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34490982
15.
Interferon signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.
JCI Insight
; 2024 Jun 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38885315
16.
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.
J Child Neurol
; 39(3-4): 147-154, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38532733
17.
Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.
Neurology
; 103(1): e209541, 2024 Jul 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38857477
18.
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Eur J Paediatr Neurol
; 49: 141-154, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38554683
19.
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.
J Child Neurol
; 38(8-9): 498-504, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37461315
20.
Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.
J Child Neurol
; 38(8-9): 518-527, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37499181