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.
Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort.
Eur Arch Otorhinolaryngol
; 275(10): 2441-2448, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30094485
4.
[Significance of whole exome sequencing in the diagnostics of rare neurological diseases - own experiences through a case presenting with ataxia]. / A teljesexom-szekvenálás jelentosége a ritka neurológiai betegségek diagnosztikájában saját tapasztalatok egy ataxiás eset kapcsán.
Orv Hetil
; 159(28): 1163-1169, 2018 Jul.
Artigo
em Húngaro
| MEDLINE | ID: mdl-29983107
5.
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Hum Mutat
; 38(8): 970-977, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544275
6.
Natural and Induced Mitochondrial Phosphate Carrier Loss: DIFFERENTIAL DEPENDENCE OF MITOCHONDRIAL METABOLISM AND DYNAMICS AND CELL SURVIVAL ON THE EXTENT OF DEPLETION.
J Biol Chem
; 291(50): 26126-26137, 2016 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27780865
7.
Two transgenic mouse models for ß-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations.
Biochem J
; 473(20): 3463-3485, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27496549
8.
Localization of SUCLA2 and SUCLG2 subunits of succinyl CoA ligase within the cerebral cortex suggests the absence of matrix substrate-level phosphorylation in glial cells of the human brain.
J Bioenerg Biomembr
; 47(1-2): 33-41, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25370487
9.
The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy.
Clin Neuropathol
; 34(2): 89-95, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25492887
10.
The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation.
Ideggyogy Sz
; 67(11-12): 420-5, 2014 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25720245
11.
Answer to Gerber et al. "Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy".
EMBO Mol Med
; 15(8): e16251, 2023 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37431815
12.
Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications.
Front Psychiatry
; 14: 1301272, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38250256
13.
Psychiatric symptoms of patients with primary mitochondrial DNA disorders.
Behav Brain Funct
; 8: 9, 2012 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22329956
14.
Dynamics of dystroglycan complex proteins and laminin changes due to angiogenesis in rat cerebral hypoperfusion.
Microvasc Res
; 81(2): 153-9, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21192954
15.
[The clinical utility of genetic testing in epilepsy]. / Genetikai módszerek es hozzáférhetoségük epilepsziában.
Ideggyogy Sz
; 64(9-10): 321-4, 2011 Sep 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-22059368
16.
A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome.
Ideggyogy Sz
; 64(11-12): 399-403, 2011 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-22611618
17.
New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family.
Front Genet
; 12: 628904, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34168672
18.
Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.
Life (Basel)
; 11(6)2021 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34072668
19.
Cathepsin D (C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease.
Alzheimer Dis Assoc Disord
; 24(1): 104-7, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19571726
20.
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