Detalhe da pesquisa
1.
Inflammatory Type Focal Cerebral Arteriopathy of the Posterior Circulation in Children: A Comparative Cohort Study.
Stroke
; 55(4): 1006-1014, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38445467
2.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Clin Genet
; 105(3): 294-301, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044714
3.
Fatal cervical myelopathy in a child with glutaric aciduria type 1.
J Inherit Metab Dis
; 47(2): 217-219, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38326670
4.
Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene.
Pediatr Transplant
; 27(6): e14561, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37345726
5.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34675124
6.
Decompressive hemicraniectomy in pediatric malignant arterial ischemic stroke: a case-based review.
Childs Nerv Syst
; 39(9): 2377-2389, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37493722
7.
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
Eur J Neurol
; 29(11): 3229-3242, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200804
8.
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Epilepsy Behav
; 126: 108471, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915430
9.
[Medical and educational challenges in the care of children with disabilities]. / Enjeux médico-éducatifs dans la prise en charge de l'enfant en situation de handicap.
Rev Med Suisse
; 18(770): 306-309, 2022 Feb 23.
Artigo
em Francês
| MEDLINE | ID: mdl-35224903
10.
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Genet Med
; 23(10): 1912-1921, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113010
11.
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Clin Genet
; 100(3): 329-333, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037256
12.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
13.
Risk Factors for Postprocedural Arterial Ischemic Stroke in Children With Cardiac Disease.
Stroke
; 51(9): e242-e245, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32811375
14.
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Am J Hum Genet
; 101(4): 552-563, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965847
15.
Feasibility, safety, and outcome of recanalization treatment in childhood stroke.
Ann Neurol
; 83(6): 1125-1132, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29679441
16.
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
J Hum Genet
; 63(7): 847-850, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29717186
17.
Manual dexterity, but not cerebral palsy, predicts cognitive functioning after neonatal stroke.
Dev Med Child Neurol
; 60(10): 1045-1051, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29624666
18.
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
Am J Med Genet A
; 173(9): 2456-2460, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28631894
19.
Multimodal Outcome at 7 Years of Age after Neonatal Arterial Ischemic Stroke.
J Pediatr
; 172: 156-161.e3, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26968833
20.
Herpes simplex encephalitis as a complication of neurosurgical procedures: report of 3 cases and review of the literature.
Virol J
; 13: 83, 2016 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27216026