Detalhe da pesquisa
1.
Robot-assisted gait training improves walking and cerebral connectivity in children with unilateral cerebral palsy.
Pediatr Res
; 2024 May 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38769400
2.
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.
Clin Genet
; 104(3): 365-370, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37177896
3.
Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Neurol Sci
; 44(1): 329-337, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36175810
4.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet
; 59(5): 511-516, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34183358
5.
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Mol Genet Metab
; 135(1): 109-113, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34969638
6.
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.
Mov Disord
; 37(6): 1294-1298, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35384065
7.
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain
; 144(12): 3635-3650, 2021 12 31.
Artigo
Inglês
| MEDLINE | ID: mdl-34114611
8.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Genet Med
; 23(11): 2160-2170, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34234304
9.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1484-1491, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33833411
10.
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Clin Genet
; 99(3): 407-417, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33277917
11.
Cold Vibration (Buzzy) Versus Anesthetic Patch (EMLA) for Pain Prevention During Cannulation in Children: A Randomized Trial.
Pediatr Emerg Care
; 37(2): 86-91, 2021 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31181022
12.
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Brain
; 142(10): 2996-3008, 2019 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31532509
13.
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Am J Hum Genet
; 98(2): 363-72, 2016 Feb 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26833329
14.
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
Dev Med Child Neurol
; 61(12): 1439-1447, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31410843
15.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
J Med Genet
; 55(6): 359-371, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29618507
16.
Brain Diffusion Imaging and Tractography to Distinguish Clinical Severity of Human PLP1-Related Disorders.
Dev Neurosci
; 40(4): 301-311, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30261498
17.
Secondary Bone Defect in Neuromuscular Diseases in Childhood: A Longitudinal "Muscle-Bone Unit" Analysis.
Neuropediatrics
; 49(6): 397-400, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29980148
18.
Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Neurol Sci
; 44(3): 1139, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36418612
19.
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
Metab Brain Dis
; 32(6): 2149-2154, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28868593
20.
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1585, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-34257424