Detalhe da pesquisa
1.
Genetic landscape of early-onset dementia in Hungary.
Neurol Sci
; 43(9): 5289-5300, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35752680
2.
Broadening the phenotype of the TWNK gene associated Perrault syndrome.
BMC Med Genet
; 20(1): 198, 2019 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31852434
3.
Whole mitochondrial genome diversity in two Hungarian populations.
Mol Genet Genomics
; 293(5): 1255-1263, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29948329
4.
Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion.
Behav Brain Funct
; 14(1): 4, 2018 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29458409
5.
The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer's Disease.
Life (Basel)
; 11(4)2021 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33917565
6.
Hereditary Parkinson's disease as a new clinical manifestation of the damaged POLG gene / [Az örökletes Parkinson-kór mint a POLG-gén károsodásának új klinikai megjelenési formája]
Orv Hetil
; 161(20): 821-828, 2020 05 01.
Artigo
em Húngaro
| MEDLINE | ID: mdl-32364361
7.
Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.
Front Genet
; 10: 434, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31134136
8.
[Maternally inherited diabetes mellitus, deafness, chronic progressive external ophthalmoplegia and myopathy as the result of A3243G mutation of mtDNA]. / Maternalisan öröklôdô diabetes mellitus, nagyothallás, kronikus progressziv ophthalmoplegia externa es myopathia mint az MTDNS A3243G-mutáció következménye.
Orv Hetil
; 149(34): 1593-8, 2008 Aug 24.
Artigo
em Húngaro
| MEDLINE | ID: mdl-18708313
9.
Asian-specific mitochondrial genome polymorphism (9-bp deletion) in Hungarian patients with mitochondrial disease.
Mitochondrial DNA A DNA Mapp Seq Anal
; 27(3): 1697-700, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25242187
10.
Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.
Gene
; 595(2): 131-141, 2016 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-27651234
11.
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
J Neurol Sci
; 364: 116-21, 2016 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27084228
12.
Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases.
Mitochondrial DNA
; 26(4): 572-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24438288
13.
Coexisting huntingtin and SCA8 repeat expansion: case report of a severe complex neurodegenerative syndrome.
J Neurol Sci
; 293(1-2): 116-8, 2010 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20403608
14.
Bcl-2 or bcl-XL gene therapy increases neural plasticity proteins nestin and c-fos expression in PC12 cells.
Neurochem Int
; 55(5): 349-53, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19375463