Detalhe da pesquisa
1.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Eur J Neurol
; : e16275, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576261
2.
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Neurol Sci
; 45(3): 1007-1016, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853291
3.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
J Med Genet
; 2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37940383
4.
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
Am J Med Genet A
; 191(9): 2428-2432, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462082
5.
Sex steroid hormones and epilepsy: Effects of hormonal replacement therapy on seizure frequency of postmenopausal women with epilepsy-A systematic review.
Eur J Neurol
; 30(9): 2884-2898, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37326003
6.
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.
Dig Dis Sci
; 68(10): 3857-3871, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650948
7.
Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.
Int J Mol Sci
; 24(3)2023 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768938
8.
How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey.
Eur J Neurol
; 29(7): 1885-1891, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35271759
9.
Genetic landscape of early-onset dementia in Hungary.
Neurol Sci
; 43(9): 5289-5300, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35752680
10.
[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease]. / A késoi kezdetu Pompe-kórban szenvedok enzimpótló kezelésének hosszú távú követése.
Ideggyogy Sz
; 73(05-06): 151-159, 2020 05 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-32579304
11.
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
12.
Dynamic interaction of genetic risk factors and cocaine abuse in the background of Parkinsonism - a case report.
BMC Neurol
; 19(1): 260, 2019 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660902
13.
Tight co-twin similarity of monozygotic twins for hTERT protein level of T cell subsets, for telomere length and mitochondrial DNA copy number, but not for telomerase activity.
Cell Mol Life Sci
; 75(13): 2447-2456, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290038
14.
Whole mitochondrial genome diversity in two Hungarian populations.
Mol Genet Genomics
; 293(5): 1255-1263, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29948329
15.
Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations.
BMC Med Genet
; 19(1): 113, 2018 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29986653
16.
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
17.
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
18.
[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
19.
[Multilocus genetic analysis implicates neurodevelopment and immune system in the etiology of schizophrenia]. / A szkizofrénia multilókusz genetikai vizsgálata az idegfejlodés és az immunrendszer zavarának oki szerepére utal(hat).
Ideggyogy Sz
; 70(3-4): 115-126, 2017 Mar 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-29870616
20.
Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report.
Neurol Neurochir Pol
; 50(4): 303-8, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27375149