Detalhe da pesquisa
1.
Identifying interindividual variability of social perception and associated brain anatomical correlations in children with autism spectrum disorder using eye-tracking and diffusion tensor imaging MRI (DTI-MRI).
Cereb Cortex
; 34(1)2024 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38037470
2.
Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy.
Eur J Neurol
; : e16324, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693756
3.
Optimization of vigabatrin dosage in children with epileptic spasms: A population pharmacokinetic approach.
Br J Clin Pharmacol
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38664899
4.
Neurologic Outcomes and Quality of Life in Children After Extracorporeal Membrane Oxygenation.
Pediatr Crit Care Med
; 25(3): e158-e167, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38088764
5.
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
6.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genet Med
; 25(7): 100835, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999555
7.
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Mol Genet Metab
; 139(4): 107650, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454519
8.
Spectrum of neuroradiological manifestations in primary hemophagocytic lymphohistiocytosis: a comparative study of EBV-induced versus non-EBV-induced forms in 75 genetically confirmed pediatric cases.
Eur Radiol
; 33(10): 7149-7159, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37171488
9.
Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.
J Inherit Metab Dis
; 46(5): 972-981, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37381921
10.
Clinical and radiological description of 120 pediatric stroke-like episodes.
Eur J Neurol
; 30(7): 2051-2061, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046408
11.
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.
Brain
; 145(10): 3374-3382, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35714222
12.
Neurological features related to influenza virus in the pediatric population: a 3-year monocentric retrospective study.
Eur J Pediatr
; 182(6): 2615-2624, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36947244
13.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737400
14.
Severe and fatal neonatal infections linked to a new variant of echovirus 11, France, July 2022 to April 2023.
Euro Surveill
; 28(22)2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37261730
15.
Perioperative complications after posterior spinal fusion versus minimally invasive fusionless surgery in neuromuscular scoliosis: a comparative study.
Arch Orthop Trauma Surg
; 143(8): 4605-4612, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36534211
16.
Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children.
J Pediatr
; 247: 22-28.e2, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577119
17.
Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.
Ann Neurol
; 89(2): 280-292, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159473
18.
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Eur Heart J
; 42(20): 1976-1984, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33748842
19.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
Am J Hum Genet
; 102(2): 266-277, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395073
20.
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