Detalhe da pesquisa
1.
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Brain
; 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242634
2.
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
J Inherit Metab Dis
; 46(1): 129-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36225138
3.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406
4.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord
; 35(8): 1357-1368, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472658
5.
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Mol Med
; 25(1): 6, 2019 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30813884
6.
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
J Inherit Metab Dis
; 42(2): 264-275, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689204
7.
Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.
J Inherit Metab Dis
; 41(6): 1077-1091, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29948482
8.
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.
J Inherit Metab Dis
; 39(1): 131-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26174906
9.
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
J Inherit Metab Dis
; 39(5): 733-741, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27342130
10.
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Neurol Genet
; 10(2): e200146, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38617198
11.
Pediatric papillary tumors of the pineal region: to observe or to treat following gross total resection?
Childs Nerv Syst
; 29(2): 307-10, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23053362
12.
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
Mol Genet Genomic Med
; 11(5): e2148, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36785910
13.
Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.
Metabolites
; 12(4)2022 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35448478
14.
Closed-Loop Acoustic Stimulation During Sleep in Children With Epilepsy: A Hypothesis-Driven Novel Approach to Interact With Spike-Wave Activity and Pilot Data Assessing Feasibility.
Front Hum Neurosci
; 13: 166, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164813
15.
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet
; 27(3): 408-421, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552426
16.
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Eur J Hum Genet
; 27(5): 747-759, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664714
17.
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.
PLoS One
; 12(5): e0176363, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28463998
18.
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Front Genet
; 6: 123, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25918518
19.
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.
Orphanet J Rare Dis
; 9: 176, 2014 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25425405
20.
Pyridoxine responsiveness in novel mutations of the PNPO gene.
Neurology
; 82(16): 1425-33, 2014 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-24658933