Detalhe da pesquisa
1.
Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans.
J Biol Chem
; 299(5): 104714, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37061005
2.
Interaction between miR-142-3p and BDNF Val/Met Polymorphism Regulates Multiple Sclerosis Severity.
Int J Mol Sci
; 25(10)2024 May 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38791290
3.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Mov Disord
; 38(12): 2241-2248, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37750340
4.
Genetic regulation of IL-8 influences disease presentation of multiple sclerosis.
Mult Scler
; 29(4-5): 512-520, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36803228
5.
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
Clin Genet
; 102(2): 155-156, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35524423
6.
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
Clin Genet
; 99(6): 829-835, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33604894
7.
An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease.
J Neural Transm (Vienna)
; 128(10): 1599-1610, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34109443
8.
Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells.
Int J Mol Sci
; 22(10)2021 May 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34065350
9.
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.
BMC Neurol
; 20(1): 258, 2020 Jun 29.
Artigo
Inglês
| MEDLINE | ID: mdl-32600288
10.
Promiscuous Roles of Autophagy and Proteasome in Neurodegenerative Proteinopathies.
Int J Mol Sci
; 21(8)2020 Apr 24.
Artigo
Inglês
| MEDLINE | ID: mdl-32344772
11.
Quantitative Ultrastructural Morphometry and Gene Expression of mTOR-Related Mitochondriogenesis within Glioblastoma Cells.
Int J Mol Sci
; 21(13)2020 Jun 27.
Artigo
Inglês
| MEDLINE | ID: mdl-32604996
12.
Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers.
Int J Mol Sci
; 21(2)2020 Jan 20.
Artigo
Inglês
| MEDLINE | ID: mdl-31968687
13.
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Neurogenetics
; 20(2): 57-64, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30911870
14.
Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study.
Headache
; 59(2): 253-258, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30620050
15.
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.
Neurodegener Dis
; 19(2): 96-100, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31578030
16.
Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures.
Int J Mol Sci
; 20(12)2019 Jun 14.
Artigo
Inglês
| MEDLINE | ID: mdl-31197099
17.
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Hum Mutat
; 39(10): 1428-1441, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30007050
18.
Ambiguous Effects of Autophagy Activation Following Hypoperfusion/Ischemia.
Int J Mol Sci
; 19(9)2018 Sep 13.
Artigo
Inglês
| MEDLINE | ID: mdl-30217100
19.
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.
Int J Neurosci
; 127(12): 1150-1153, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28556688
20.
Revisiting the gamma loop in ALS.
Arch Ital Biol
; 155(4): 118-130, 2017 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29405034