Detalhe da pesquisa
1.
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Hum Mol Genet
; 31(6): 929-941, 2022 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34622282
2.
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Mov Disord
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685873
3.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
4.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
Am J Med Genet A
; 188(2): 522-533, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713950
5.
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders.
J Neural Transm (Vienna)
; 129(8): 1011-1021, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35829818
6.
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
Int J Mol Sci
; 23(8)2022 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457240
7.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis
; 44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677093
8.
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
Eur J Neurol
; 28(8): 2784-2788, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33851480
9.
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
10.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Int J Mol Sci
; 22(16)2021 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445196
11.
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
BMC Neurol
; 20(1): 246, 2020 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32546208
12.
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.
Int J Mol Sci
; 21(16)2020 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32823520
13.
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Mov Disord
; 34(10): 1516-1527, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216378
14.
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Mov Disord
; 38(12): 2313-2314, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632268
15.
Theory of mind in non-suicidal self-injury (NSSI) adolescents.
Conscious Cogn
; 43: 38-47, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236355
16.
Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report.
Clin Child Psychol Psychiatry
; : 13591045241240805, 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38515429
17.
Experimental pharmacology: Targeting metabolic pathways.
Int Rev Neurobiol
; 169: 259-315, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37482395
18.
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease.
Genes (Basel)
; 14(2)2023 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833246
19.
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.
Parkinsonism Relat Disord
; 111: 105405, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37142469
20.
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans.
Front Mol Neurosci
; 16: 1170061, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37324589