Detalhe da pesquisa
1.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Am J Hum Genet
; 110(11): 1919-1937, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827158
2.
Juvenile neuropsychiatric systemic lupus erythematosus: A specific clinical phenotype and proposal of a probability score.
Lupus
; 33(4): 328-339, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38315109
3.
Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers.
J Clin Immunol
; 43(3): 615-624, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36469191
4.
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
J Clin Immunol
; 43(6): 1436-1447, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37171742
5.
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.
J Clin Immunol
; 41(3): 603-609, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33411153
6.
Mortality and Neurologic Sequelae in Influenza-Associated Encephalopathy: Retrospective Multicenter PICU Cohort in France.
Pediatr Crit Care Med
; 22(11): e582-e587, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33950890
7.
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Ann Neurol
; 85(3): 385-395, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635937
8.
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Am J Hum Genet
; 99(6): 1229-1244, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27817865
9.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Hum Genet
; 136(4): 463-479, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283832
10.
Reverse-Transcriptase Inhibitors in the AicardiGoutières Syndrome
N Engl J Med
; 379(23): 2275-7, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30566312
11.
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
BMC Med Genet
; 16: 77, 2015 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26329556
12.
Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.
Am J Med Genet A
; 167A(2): 428-33, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25428228
13.
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
Neuropediatrics
; 45(6): 386-93, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25243380
14.
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Eur J Paediatr Neurol
; 33: 75-85, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102571
15.
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Mol Genet Genomic Med
; 7(9): e914, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31368241
16.
MFN2, a new gene responsible for mitochondrial DNA depletion.
Brain
; 135(Pt 8): e223, 1-4; author reply e224, 1-3, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22556188
17.
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
Neurol Genet
; 4(6): e289, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30584594
18.
Area Postrema Syndrome as the Initial Presentation of Alexander Disease.
Neurology
; 97(11): 548-549, 2021 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233935
19.
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
Eur J Paediatr Neurol
; 20(2): 323-330, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26643067
20.
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
em Inglês
| MEDLINE | ID: mdl-27091087