Search details
1.
Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Neurol Sci
; 44(1): 329-337, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36175810
2.
Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv).
BMC Pediatr
; 23(1): 563, 2023 11 15.
Article
in English
| MEDLINE | ID: mdl-37968589
3.
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Eur J Neurol
; 29(8): 2398-2411, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35460302
4.
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
Eur J Neurol
; 29(11): 3229-3242, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36200804
5.
Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population.
Neuropediatrics
; 53(3): 182-187, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35297028
6.
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
J Med Genet
; 58(9): 602-608, 2021 09.
Article
in English
| MEDLINE | ID: mdl-32994279
7.
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.
Genet Med
; 23(5): 968-971, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33500571
8.
Real-life use of videos in pediatric epilepsy consultations.
Epilepsy Behav
; 114(Pt A): 107636, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33309428
9.
Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients.
Int J Mol Sci
; 22(23)2021 Nov 30.
Article
in English
| MEDLINE | ID: mdl-34884796
10.
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Epilepsia
; 60(5): 845-856, 2019 05.
Article
in English
| MEDLINE | ID: mdl-31026061
11.
Prognostic factors for the sequelae and severity of Guillain-Barré syndrome in children.
Muscle Nerve
; 60(6): 716-723, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31531862
12.
First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation.
Int J Mol Sci
; 20(21)2019 Oct 28.
Article
in English
| MEDLINE | ID: mdl-31661765
13.
Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Neurol Sci
; 44(3): 1139, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36418612
14.
Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature.
Am J Med Genet A
; 173(4): 1061-1065, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28328117
15.
Infantile Hemangioma of the Posterior Fossa in a Newborn: Early Management and Long-Term Follow-up.
Neuropediatrics
; 48(5): 378-381, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28301882
16.
Reverse-Transcriptase Inhibitors in the AicardiGoutières Syndrome
N Engl J Med
; 379(23): 2275-7, 2018 12 06.
Article
in English
| MEDLINE | ID: mdl-30566312
17.
ADHD in childhood epilepsy: Clinical determinants of severity and of the response to methylphenidate.
Epilepsia
; 57(7): 1069-77, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27237724
18.
Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France.
Epilepsia
; 57(5): 757-69, 2016 May.
Article
in English
| MEDLINE | ID: mdl-27037674
19.
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Epilepsia
; 56(12): 1931-40, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26514728
20.
Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome.
Eur J Paediatr Neurol
; 48: 61-66, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38041897