Detalhe da pesquisa
1.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Am J Hum Genet
; 108(10): 2017-2023, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587489
2.
Opioid versus opioid-free analgesia after surgical discharge: a systematic review and meta-analysis of randomised trials.
Lancet
; 399(10343): 2280-2293, 2022 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35717988
3.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Brain
; 145(10): 3383-3390, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35737950
4.
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.
Neurogenetics
; 23(2): 151-156, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35099671
5.
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.
Neurogenetics
; 23(4): 271-274, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35920923
6.
Expanded phenotype of AARS1-related white matter disease.
Genet Med
; 23(12): 2352-2359, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34446925
7.
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Pediatr Neurol
; 141: 79-86, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36791574
8.
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
Metabolites
; 12(3)2022 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35323704
9.
POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
Fac Rev
; 10: 12, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33659930
10.
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
Child Neurol Open
; 8: 2329048X211027438, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34368388
11.
Characterizing the protracted neurobiological and neuroanatomical effects of paraquat in a murine model of Parkinson's disease.
Neurobiol Aging
; 100: 11-21, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33450723
12.
Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.
HGG Adv
; 2(3): 100034, 2021 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047835
13.
Leucine-rich repeat kinase-2 (LRRK2) modulates microglial phenotype and dopaminergic neurodegeneration.
Neurobiol Aging
; 91: 45-55, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32247534
14.
mGluR5 Allosteric Modulation Promotes Neurorecovery in a 6-OHDA-Toxicant Model of Parkinson's Disease.
Mol Neurobiol
; 57(3): 1418-1431, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754998
15.
Opioid versus opioid-free analgesia after surgical discharge: protocol for a systematic review and meta-analysis.
BMJ Open
; 10(1): e035443, 2020 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32014880