Detalhe da pesquisa
1.
Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia.
Brain
; 146(3): 1103-1120, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029068
2.
A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.
Neuropediatrics
; 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37343586
3.
Overview of Curcumin and Piperine Effects on Glucose Metabolism: The Case of an Insulinoma Patient's Loss of Consciousness.
Int J Mol Sci
; 24(7)2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047589
4.
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
Cerebellum
; 21(6): 1144-1150, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34846692
5.
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Int J Mol Sci
; 23(12)2022 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743164
6.
Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.
Neurol Sci
; 45(2): 819-823, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37792112
7.
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5080-5092, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28677066
8.
Mutations in MAPT give rise to aneuploidy in animal models of tauopathy.
Neurogenetics
; 15(1): 31-40, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24218087
9.
Chromosomal imbalances in human bladder urothelial carcinoma: similarities and differences between biopsy samples and cancer stem-like cells.
BMC Cancer
; 14: 646, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25178926
10.
A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.
Seizure
; 116: 151-155, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36710240
11.
Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia.
Front Genet
; 14: 1130687, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37152989
12.
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5093, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28900662
13.
Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes.
Front Neurol
; 13: 930039, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35903116
14.
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
J Neurol
; 269(1): 437-450, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34487232
15.
Cytogenetics of premature ovarian failure: an investigation on 269 affected women.
J Biomed Biotechnol
; 2011: 370195, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21318170
16.
Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.
Ann Clin Transl Neurol
; 8(4): 956-963, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33756041
17.
Long-term follow-up in a cohort of children with isolated corpus callosum agenesis at fetal MRI.
Ann Clin Transl Neurol
; 8(12): 2280-2288, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34850608
18.
Biological heterogeneity of putative bladder cancer stem-like cell populations from human bladder transitional cell carcinoma samples.
Cancer Sci
; 101(2): 416-24, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19961489
19.
Antipsychotics Promote Metabolic Disorders Disrupting Cellular Lipid Metabolism and Trafficking.
Trends Endocrinol Metab
; 30(3): 189-210, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30718115
20.
Naringenin Ameliorates Drosophila ReepA Hereditary Spastic Paraplegia-Linked Phenotypes.
Front Neurosci
; 13: 1202, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31803000