Detalhe da pesquisa
1.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38038360
2.
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Eur J Neurol
; 30(9): 2828-2837, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37235686
3.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35718920
4.
Early Seizure Recurrence in Children Admitted for Nonfebrile Seizures in the Emergency Department: A Prospective Study.
Neuropediatrics
; 53(6): 440-444, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35777663
5.
Real-life use of videos in pediatric epilepsy consultations.
Epilepsy Behav
; 114(Pt A): 107636, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33309428
6.
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Epilepsia
; 60(5): 845-856, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31026061
7.
Multimodal Outcome at 7 Years of Age after Neonatal Arterial Ischemic Stroke.
J Pediatr
; 172: 156-161.e3, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26968833
8.
Anti-tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study.
Epilepsia
; 57(6): 956-66, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27106864
9.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
J Med Genet
; 52(1): 61-70, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25411445
10.
Actigraphy is not a reliable method for measuring sleep patterns in neonates.
Acta Paediatr
; 104(11): e478-82, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26081297
11.
MECP2 Dysautonomia Phenotypes in Boys.
Pediatr Neurol
; 134: 31-36, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35809380
12.
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.
Front Pediatr
; 9: 621200, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33748042
13.
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.
Front Pediatr
; 8: 4, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32133329
14.
Determining the technical and clinical factors associated with pain for children undergoing botulinum toxin injections under nitrous oxide and anesthetic cream.
Eur J Paediatr Neurol
; 15(4): 310-5, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21273098