Detalhe da pesquisa
1.
Accumulation of Polyphenols and Associated Gene Expression in Hairy Roots of Salvia viridis Exposed to Methyl Jasmonate.
Int J Mol Sci
; 25(2)2024 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38255839
2.
Genomic variants and inferred biological processes in multiplex families with Tourette syndrome.
J Psychiatry Neurosci
; 48(3): E179-E189, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37208127
3.
Rare A360T Mutation Alters GSK3ß(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing ß-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer's Disease Case.
Int J Mol Sci
; 24(23)2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069323
4.
Mitochondrial Genome Variation in Polish Elite Athletes.
Int J Mol Sci
; 24(16)2023 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37629173
5.
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Hum Genomics
; 12(1): 34, 2018 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29970176
6.
Association of serotoninergic pathway gene variants with elite athletic status in the Polish population.
J Sports Sci
; 37(14): 1655-1662, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30836829
7.
Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.
Hum Genomics
; 10: 3, 2016 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26747084
8.
Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?
Neurocase
; 20(1): 69-86, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-23121543
9.
The impact of mitochondrial DNA and nuclear genes related to mitochondrial functioning on the risk of Parkinson's disease.
Curr Genomics
; 14(8): 543-59, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24532986
10.
Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation.
BMC Genom Data
; 24(1): 70, 2023 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37986041
11.
Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.
Biol Psychiatry
; 2023 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36738982
12.
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.
Transl Psychiatry
; 13(1): 69, 2023 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36823209
13.
Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.
Amyotroph Lateral Scler
; 13(1): 132-6, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21877919
14.
[TDP-43 proteinopathies - from frontotemporal lobar degeneration to inclusion body myositis]. / Proteinopatie TDP-43 - od zwyrodnienia czolowo-skroniowego do wtretowego zapalenia miesni.
Neurol Neurochir Pol
; 46(4): 384-91, 2012.
Artigo
em Polonês
| MEDLINE | ID: mdl-23023438
15.
A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes.
Genes (Basel)
; 13(12)2022 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553628
16.
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.
Sci Rep
; 12(1): 103, 2022 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34996976
17.
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
J Alzheimers Dis
; 89(4): 1211-1219, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36031890
18.
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.
Ann Neurol
; 68(5): 639-49, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21031579
19.
Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency.
Front Mol Neurosci
; 14: 676478, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054428
20.
Two Rare Variants in PLAU and BACE1 Genes-Do They Contribute to Semantic Dementia Clinical Phenotype?
Genes (Basel)
; 12(11)2021 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828412