Detalhe da pesquisa
1.
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Brain;
145(10): 3711-3722, 2022 10 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35325049
2.
Activating cannabinoid receptor 2 preserves axonal health through GSK-3ß/NRF2 axis in adrenoleukodystrophy.
Acta Neuropathol;
144(2): 241-258, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35778568
3.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Brain;
144(9): 2659-2669, 2021 10 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34415322
4.
Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain.
J Clin Immunol;
41(5): 914-922, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33851338
5.
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Clin Genet;
98(1): 91-98, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32335897
6.
Expanding the clinical and genetic spectrum of PCYT2-related disorders.
Brain;
143(9): e76, 2020 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32889549
7.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Acta Neuropathol;
140(6): 971-975, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33015733
8.
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
J Clin Invest;
133(14)2023 07 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37463447
9.
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
J Clin Invest;
133(10)2023 05 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36951944
10.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Genome Med;
15(1): 68, 2023 09 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37679823
11.
Accelerated biological aging in COVID-19 patients.
Nat Commun;
13(1): 2135, 2022 04 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35440567
12.
Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study.
EClinicalMedicine;
50: 101515, 2022 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35770252
13.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Neurology;
98(9): e912-e923, 2022 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35012964
14.
Epigenome-wide association study of COVID-19 severity with respiratory failure.
EBioMedicine;
66: 103339, 2021 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33867313
15.
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males.
EBioMedicine;
65: 103246, 2021 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33647767
16.
Case Report: Benign Infantile Seizures Temporally Associated With COVID-19.
Front Pediatr;
8: 507, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32850563
17.
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
Ann Clin Transl Neurol;
7(1): 105-111, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31854126