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Page 1
LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study.
Skorvanek M, Rizig M, Athanasiou-Fragkouli A, Necpal J, Straka I, Tamas G, Kurca E, Mosejova A, Han V, Lorincova T, Ostrozovicova M, Liesenerova S, Levicka P, Fajcikova L, Minar M, Valkovic P, Mákos O, Kelemen A, Grofik M, Cibulka M, Jama F, Houlden H; members of the CEGEMOD study group. Skorvanek M, et al. Among authors: ostrozovicova m. Parkinsonism Relat Disord. 2021 Feb;83:110-112. doi: 10.1016/j.parkreldis.2020.12.021. Epub 2021 Jan 11. Parkinsonism Relat Disord. 2021. PMID: 33561776 No abstract available.
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
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.
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Zech M, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Wagner M, Dincer Y, Sadr-Nabavi A, Serranová T, Rektorová I, Havránková P, Ganai S, Mosejová A, Příhodová I, Šarláková J, Kulcsarová K, Ulmanová O, Bechyně K, Ostrozovičová M, Haň V, Ventosa JR, Shariati M, Shoeibi A, Weber S, Mollenhauer B, Trenkwalder C, Berutti R, Strom TM, Ceballos-Baumann A, Mall V, Haslinger B, Jech R, Winkelmann J. Zech M, et al. Among authors: ostrozovicova m. Parkinsonism Relat Disord. 2021 Mar;84:129-134. doi: 10.1016/j.parkreldis.2021.02.013. Epub 2021 Feb 12. Parkinsonism Relat Disord. 2021. PMID: 33611074
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
Zech M, Jech R, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Wagner M, Sadr-Nabavi A, Distelmaier F, Krenn M, Serranová T, Rektorová I, Havránková P, Mosejová A, Příhodová I, Šarláková J, Kulcsarová K, Ulmanová O, Bechyně K, Ostrozovičová M, Haň V, Ventosa JR, Brunet T, Berutti R, Shariati M, Shoeibi A, Schneider SA, Kuster A, Baumann M, Weise D, Wilbert F, Janzarik WG, Eckenweiler M, Mall V, Haslinger B, Berweck S, Winkelmann J, Oexle K. Zech M, et al. Among authors: ostrozovicova m. Mov Disord. 2021 Aug;36(8):1959-1964. doi: 10.1002/mds.28614. Epub 2021 May 5. Mov Disord. 2021. PMID: 33949708
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.
14 results