Detalhe da pesquisa
1.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
N Engl J Med
; 384(25): 2406-2417, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161705
2.
Long-term outcomes of paediatric Guillain-Barré syndrome.
Dev Med Child Neurol
; 66(2): 176-186, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37501281
3.
Efficacy of intravenous clonazepam for paediatric convulsive status epilepticus.
Dev Med Child Neurol
; 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263722
4.
New insights into CC2D2A-related Joubert syndrome.
J Med Genet
; 60(6): 578-586, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319078
5.
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.
Int J Mol Sci
; 25(8)2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673950
6.
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
em Inglês
| MEDLINE | ID: mdl-37235686
7.
Cerebral sinovenous thrombosis associated with head/neck infection in children: Clues for improved management.
Dev Med Child Neurol
; 65(2): 215-222, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35765978
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35297028
9.
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
10.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet
; 102(5): 744-759, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656859
11.
Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients.
Int J Mol Sci
; 22(23)2021 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884796
12.
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Ann Neurol
; 86(2): 181-192, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177578
13.
Phase Contrast MRI Suggests an Internal Carotid Vascular Tone Alteration in Migraines.
Neuropediatrics
; 50(4): 244-247, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31170735
14.
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Hum Mutat
; 39(1): 140-151, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29034544
15.
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
Hum Mol Genet
; 24(14): 3948-55, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25901006
16.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Neuropediatrics
; 48(3): 166-184, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28561207
17.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188300
18.
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
Am J Med Genet A
; 170(7): 1895-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27103084
19.
Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood.
J Neuroradiol
; 43(3): 176-85, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27126632
20.
E2F transcription factor-1 deficiency reduces pathophysiology in the mouse model of Duchenne muscular dystrophy through increased muscle oxidative metabolism.
Hum Mol Genet
; 21(17): 3910-7, 2012 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678059