Detalhe da pesquisa
1.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Eur J Neurol
; : e16275, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576261
2.
Branched-chain amino acids as adjunctive-alternative treatment in patients with autism: a pilot study.
Br J Nutr
; 131(1): 73-81, 2024 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37424284
3.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
4.
De novo mutations in CLDN5: alternating hemiplegia of childhood or not?
Brain
; 146(8): e57-e58, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36825455
5.
Oxygen Therapy: An Acute Treatment for Paroxysmal Dystonia in Alternating Hemiplegia of Childhood?
Mov Disord
; 38(5): 906-907, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36794704
6.
Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood.
Mov Disord
; 38(9): 1759-1761, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37466145
7.
Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.
Epilepsia Open
; 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38517305
8.
Real life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood.
Eur J Paediatr Neurol
; 49: 55-59, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38367370
9.
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
J Neurol
; 271(2): 835-840, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831128
10.
Metabolic Fingerprint in Childhood Acute Lymphoblastic Leukemia.
Diagnostics (Basel)
; 14(7)2024 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38611595
11.
Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease.
J Child Neurol
; 38(10-12): 597-610, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728088
12.
Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood.
Eur J Paediatr Neurol
; 46: 98-107, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562161
13.
Efficacy of a Robot-Assisted Intervention in Improving Learning Performance of Elementary School Children with Specific Learning Disorders.
Children (Basel)
; 9(8)2022 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36010046
14.
Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet.
JIMD Rep
; 60(1): 3-9, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258135
15.
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.
Brain Commun
; 3(3): fcab128, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34396101