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Page 1
CNV-Finder: Streamlining Copy Number Variation Discovery.
Kuznetsov N, Daida K, Makarious MB, Al-Mubarak B, Brolin KA, Malik L, Kouam C, Baker B, Ostrozovicova M, Andersh KM, Kung PJ, Mecheri Y, Tay YW, Malek BS, Al Tassan N, Periñan MT, Hong S, Koretsky M, Sargeant L, Levine K, Blauwendraat C, Billingsley KJ, Bandres-Ciga S, Leonard HL, Morris HR, Singleton AB, Nalls MA, Vitale D; Global Parkinson’s Genetics Program (GP2). Kuznetsov N, et al. Among authors: ostrozovicova m. bioRxiv [Preprint]. 2024 Nov 23:2024.11.22.624040. doi: 10.1101/2024.11.22.624040. bioRxiv. 2024. PMID: 39605431 Free PMC article. Preprint.
p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central Europe.
Ostrozovicova M, Tamas G, Dušek P, Grofik M, Han V, Holly P, Jech R, Kalinova K, Klivenyi P, Kovacs N, Kulcsarova K, Kurca E, Lackova A, Lee H, Lewis P, Magocova V, Marekova M, Murphy D, Necpal J, Pinter D, Rabajdova M, Růžička E, Serranova T, Smilowska K, Soos K, Straka I, Svorenova T, Valkovic P, Zarubova K, Gdovinova Z, Houlden H, Rizig M, Skorvanek M. Ostrozovicova M, et al. Res Sq [Preprint]. 2024 May 29:rs.3.rs-4378197. doi: 10.21203/rs.3.rs-4378197/v1. Res Sq. 2024. PMID: 38854119 Free PMC article. Preprint.
Endoscopic Complications Are More Frequent in Levodopa-Carbidopa Intestinal Gel Treatment via JET-PEG in Parkinson's Disease Patients Compared to Nutritional PEG in Non-Parkinson's Disease Patients.
Gombošová L, Deptová J, Jochmanová I, Svoreňová T, Veseliny E, Zakuciová M, Haň V, Lacková A, Kulcsárová K, Ostrožovičová M, Ventosa JR, Trcková L, Lazúrová I, Škorvánek M. Gombošová L, et al. Among authors: ostrozovicova m. J Clin Med. 2024 Jan 25;13(3):703. doi: 10.3390/jcm13030703. J Clin Med. 2024. PMID: 38337398 Free PMC article.
Central European Group on Genetics of Movement Disorders.
Ostrozovicova M, Dusek P, Grofik M, Han V, Holly P, Jech R, Klivenyi P, Kovacs N, Kulcsarova K, Kurca E, Lackova A, Magocova V, Necpal J, Pinter D, Ruzicka E, Serranova T, Smilowska K, Straka I, Svorenova T, Tamas G, Valkovic P, Zarubova K, Houlden H, Rizig M, Skorvanek M. Ostrozovicova M, et al. Eur J Neurol. 2024 Apr;31(4):e16165. doi: 10.1111/ene.16165. Epub 2023 Dec 7. Eur J Neurol. 2024. PMID: 38059386 Free PMC article. No abstract available.
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Harrer P, Škorvánek M, Kittke V, Dzinovic I, Borngräber F, Thomsen M, Mandel V, Svorenova T, Ostrozovicova M, Kulcsarova K, Berutti R, Busch H, Ott F, Kopajtich R, Prokisch H, Kumar KR, Mencacci NE, Kurian MA, Di Fonzo A, Boesch S, Kühn AA, Blümlein U, Lohmann K, Haslinger B, Weise D, Jech R, Winkelmann J, Zech M. Harrer P, et al. Among authors: ostrozovicova m. Mov Disord. 2023 Oct;38(10):1914-1924. doi: 10.1002/mds.29562. Epub 2023 Jul 23. Mov Disord. 2023. PMID: 37485550
Prevalence of Fabry Disease among Patients with Parkinson's Disease.
Lackova A, Beetz C, Oppermann S, Bauer P, Pavelekova P, Lorincova T, Ostrozovicova M, Kulcsarova K, Cobejova J, Cobej M, Levicka P, Liesenerova S, Sendekova D, Sukovska V, Gdovinova Z, Han V, Rizig M, Houlden H, Skorvanek M. Lackova A, et al. Among authors: ostrozovicova m. Parkinsons Dis. 2022 Jan 24;2022:1014950. doi: 10.1155/2022/1014950. eCollection 2022. Parkinsons Dis. 2022. PMID: 35111290 Free PMC article.
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R. Skorvanek M, et al. Among authors: ostrozovicova m. Parkinsonism Relat Disord. 2022 Jan;94:54-61. doi: 10.1016/j.parkreldis.2021.11.030. Epub 2021 Dec 2. Parkinsonism Relat Disord. 2022. PMID: 34890876
14 results