Detalhe da pesquisa
1.
Guillain-Barré syndrome during SARS-CoV-2 pandemic: A case report and review of recent literature.
J Peripher Nerv Syst
; 25(2): 204-207, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32388880
2.
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
3.
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
4.
The role of SCARB2 as susceptibility factor in Parkinson's disease.
Mov Disord
; 28(4): 538-40, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23408458
5.
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.
Neurogenetics
; 13(3): 281-5, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22707335
6.
Psychiatric symptoms of patients with primary mitochondrial DNA disorders.
Behav Brain Funct
; 8: 9, 2012 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22329956
7.
[The absence of the common LRRK2 G2019S mutation in 120 young onset Hungarian Parkinon's disease patients]. / Az LRRK2 gyakori G2019s-mutációjának hiánya 120, korai kezdetu magyar Parkinson-beteg esetében.
Ideggyogy Sz
; 65(7-8): 239-42, 2012 Jul 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-23074843
8.
[Therapy for anti-MuSK antibody positive myasthenia gravis]. / A MuSK-ellenes antitest pozitív myasthenia gravis kezelése.
Orv Hetil
; 152(39): 1586-9, 2011 Sep 25.
Artigo
em Húngaro
| MEDLINE | ID: mdl-21920845
9.
[Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease]. / Pompe-kór fenotípusvariációi, kórlefolyása és az enzimpótló kezelés eredményei: hazai tapasztalatok.
Orv Hetil
; 152(39): 1569-75, 2011 Sep 25.
Artigo
em Húngaro
| MEDLINE | ID: mdl-21920843
10.
[Genetics and present therapy options in Parkinson's disease: a review]. / A Parkinson-kór genetikája és aktuális terápiás lehetoségei.
Ideggyogy Sz
; 62(5-6): 155-63, 2009 May 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-19579663
11.
The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson's Disease in the Hungarian Population.
Parkinsons Dis
; 2018: 9351598, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29850016
12.
[DYT1 positive generalised dystonia: a case study of two siblings]. / DYT1-pozitív generalizált dystonia: egy testvérpár esettanulmánya.
Ideggyogy Sz
; 60(7-8): 342-7, 2007 Jul 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-17713116
13.
Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients.
Neuromuscul Disord
; 26(10): 706-711, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27544631
14.
Rare variants in ß-Amyloid precursor protein (APP) and Parkinson's disease.
Eur J Hum Genet
; 23(10): 1328-33, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604855
15.
Different patterns of nerve enlargement in polyneuropathy subtypes as detected by ultrasonography.
Ultrasound Med Biol
; 40(6): 1138-45, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24613217
16.
Mitochondrial DNA mutations and cognition: a case-series report.
Arch Clin Neuropsychol
; 29(4): 315-21, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24777554
17.
Rare variants in PLXNA4 and Parkinson's disease.
PLoS One
; 8(11): e79145, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24244438
18.
Ultrasonography of MADSAM neuropathy: focal nerve enlargements at sites of existing and resolved conduction blocks.
Neuromuscul Disord
; 22(7): 627-31, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22513319
19.
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
20.
Chronic high-frequency globus pallidus internus stimulation in different types of dystonia: a clinical, video, and MRI report of six patients presenting with segmental, cervical, and generalized dystonia.
Mov Disord
; 17(1): 138-44, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11835451