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M

Miriam Ostrožovičová

department of neurology
H指数:7
被引数:174

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Genome-wide association study of REM sleep behavior disorder in Parkinson’s disease

帕金森病中快速眼动睡眠行为障碍的全基因组关联研究

npj Parkinson's Disease
IF0
2025-09-250
OAAI
Yuri L. Sosero; Karl Heilbron; Pierre Fontanillas; Lucy Norcliffe-Kaufmann; Eric Yu; Uladzislau Rudakou; Jennifer A. Ruskey; Kathryn Freeman; Farnaz Asayesh; Kajsa A. Brolin; Maria Swanberg; Huw R. Morris; Lesley Wu; Raquel Real; Lasse Pihlstrøm; Manuela Tan; Thomas Gasser; Kathrin Brockmann; Hui Liu; Michele T. M. Hu; Donald G. Grosset; Simon J. G. Lewis; John B. Kwok; Pau Pastor; Ignacio Alvarez; Matej Skorvanek; Alexandra Lackova; Miriam Ostrozovicova; Mie Rizig; Lynne Krohn; Ziv Gan-Or
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

整合基因组学和蛋白质组学揭示了肌张力障碍中难以捉摸的变异和广泛的病因异质性

BRAIN
IF11.7
2025-05-0110
OA
Zech, Michael; Dzinovic, Ivana; Skorvanek, Matej; Harrer, Philip; Necpal, Jan; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie; Brunet, Theresa; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix; Eckenweiler, Matthias; Garavaglia, Barbara; Geerlof, Arie; Graf, Elisabeth; Hackenberg, Annette; Harvanova, Denisa; Haslinger, Bernhard; Havrankova, Petra; Hoffmann, Georg F.; Janzarik, Wibke G.; Keren, Boris; Kolnikova, Miriam; Kolokotronis, Konstantinos; Kosutzka, Zuzana; Koy, Anne; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo; Mourao, Andre Santos Dias; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M.; Rybanska, Barbora; Sadr-Nabavi, Ariane; Schwenger, Susanne; Shoeibi, Ali; Sitzberger, Alexandra; Smirnov, Dmitrii; Svantnerova, Jana; Tautanova, Raushana; Toelle, Sandra P.; Ulmanova, Olga; Vetrini, Francesco; Vill, Katharina; Wagner, Matias; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara; Prokisch, Holger; Jech, Robert; Winkelmann, Juliane
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

Chelban, V.; Pellerin, D.; Vijiaratnam, N.; Lee, H.; Goh, Y.Y.; Brown, L.; Sambin, S.; Seilhean, D.; Lehericy, S.; Iruzubieta, P.; 等. 内含子FGF14 GAA重复扩展影响多系统萎缩的进展和生存。Brain 2025, 148, 3252–3265. [Google Scholar] [CrossRef]

Brain
IF11.7
2025-04-160
OAAI
Viorica Chelban; David Pellerin; Nirosen Vijiaratnam; Hamin Lee; Yen Yee Goh; Lauren Brown; Sara Sambin; Danielle Seilhean; Stephane Lehericy; Pablo Iruzubieta; Rahema Mohammad; Eleanor Self; Annarita Scardamaglia; Cameron Lee; Miriama Ostrozovicova; Marie-Josée Dicaire; Christine Girges; Emil K Gustavsson; David Murphy; Toby Curless; Joshua Laß; Joanne Trinh; Timothy Rittman; James B Rowe; Marios Hadjivassiliou; Neil Archibald; Matt C Danzi; Catherine Ashton; Virginie Roth; Marion Wandzel; Warren A Cheung; Djordje O Gveric; Bart De Vil; Jordan Follett; P Nigel Leigh; Lukas Beichert; Tomi Pastinen; Céline Bonnet; Mathilde Renaud; Wassilios G Meissner; Anne Sieben; David Crosiers; Patrick Cras; Stephan Zuchner; Jean-Christophe Corvol; Matthew J Farrer; Matthis Synofzik; Bernard Brais; Tom Warner; Huw R Morris; Zane Jaunmuktane; Tom Foltynie; Henry Houlden
Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease

LRRK2 p.L1795F变异在早发型及家族性帕金森病中欧患者中的患病率及临床特征

MOVEMENT DISORDERS CLINICAL PRACTICE
IF2.7
2025-03-220
OAAI
Miriam Ostrozovicova MD; Gertrud Tamas MD, PhD; Agsha Atputhavadivel MSc; Petr Dusek MD, PhD; Milan Grofik MD, PhD; Vladimir Han MD, PhD; Petr Holly MD; Robert Jech MD, PhD; Katarina Kalinova PhD; Peter Klivenyi MD, PhD; Norbert Kovacs MD, PhD; Kristina Kulcsarova MD, PhD; Egon Kurca MD, PhD; Alexandra Lackova MD, PhD; Hamin Lee MSc; Patrick Lewis PhD; Veronika Magocova MD; Maria Marekova PhD; David Murphy MSc; Ai Nagano PhD; Jan Necpal MD; David Pinter MD, PhD; Miroslava Rabajdova PhD; Evzen Ruzicka MD, PhD; Tereza Serranova MD, PhD; Katarzyna Smilowska MD, PhD; Krisztina Soos MD; Igor Straka MD, PhD; Tatiana Svorenova MD; Peter Valkovic MD, PhD; Katerina Zarubova MD; Zuzana Gdovinova MD, PhD; Henry Houlden MD, PhD; Mie Rizig MD, PhD; Matej Skorvanek MD, PhD; the CEGEMOD consortium
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
JOURNAL OF CLINICAL MEDICINE
IF2.9
2024-01-250
OAAI
Gombosova, Laura; Deptova, Jana; Jochmanova, Ivana; Svorenova, Tatiana; Veseliny, Eduard; Zakuciova, Maria; Han, Vladimir; Lackova, Alexandra; Kulcsarova, Kristina; Ostrozovicova, Miriama; Ventosa, Joaquim Ribeiro; Trckova, Lenka; Lazurova, Ivica; Skorvanek, Matej
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction
MOVEMENT DISORDERS
IF7.6
2023-07-233
OA
Harrer, Philip; Skorvanek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngraeber, Friederike; Thomsen, Mirja; Mandel, Vanessa; Svorenova, Tatiana; Ostrozovicova, Miriam; Kulcsarova, Kristina; Berutti, Riccardo; Busch, Hauke; Ott, Fabian; Kopajtich, Robert; Prokisch, Holger; Kumar, Kishore R.; Mencacci, Niccolo E.; Kurian, Manju A.; Di Fonzo, Alessio; Boesch, Sylvia; Kuehn, Andrea A.; Bluemlein, Ulrike; Lohmann, Katja; Haslinger, Bernhard; Weise, David; Jech, Robert; Winkelmann, Juliane; Zech, Michael
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia

WARS2突变引起多巴反应性早发性帕金森病和进行性肌阵挛性共济失调

PARKINSONISM & RELATED DISORDERS
IF3.4
2022-01-0119
OAAI
Skorvanek, Matej; Rektorova, Irena; Mandemakers, Wim; Wagner, Matias; Steinfeld, Robert; Orec, Laura; Han, Vladimir; Pavelekova, Petra; Lackova, Alexandra; Kulcsarova, Kristina; Ostrozovicova, Miriam; Gdovinova, Zuzana; Plecko, Barbara; Brunet, Theresa; Berutti, Riccardo; Kuipers, Demy J. S.; Boumeester, Valerie; Havrankova, Petra; Tijssen, M. A. J.; Kaiyrzhanov, Rauan; Rizig, Mie; Houlden, Henry; Winkelmann, Juliane; Bonifati, Vincenzo; Zech, Michael; Jech, Robert
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study
MOVEMENT DISORDERS
IF7.6
2021-05-0512
OA
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Sadr-Nabavi, Ariane; Distelmaier, Felix; Krenn, Martin; Serranova, Tereza; Rektorova, Irena; Havrankova, Petra; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Brunet, Theresa; Berutti, Riccardo; Shariati, Mohammad; Shoeibi, Ali; Schneider, Susanne A.; Kuster, Alice; Baumann, Matthias; Weise, David; Wilbert, Friederike; Janzarik, Wibke G.; Eckenweiler, Matthias; Mall, Volker; Haslinger, Bernhard; Berweck, Steffen; Winkelmann, Juliane; Oexle, Konrad
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
PARKINSONISM & RELATED DISORDERS
IF3.4
2021-03-0118
PREAI
Zech, Michael; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranova, Teresa; Rektorova, Irena; Havrankova, Petra; Ganai, Shahzaman; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Shariati, Mohammad; Shoeibi, Ali; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Berutti, Riccardo; Strom, Tim M.; Ceballos-Baumann, Andres; Mall, Volker; Haslinger, Bernhard; Jech, Robert; Winkelmann, Juliane
LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study
PARKINSONISM & RELATED DISORDERS
IF3.4
2021-02-013
PRE
Skorvanek, Matej; Rizig, Mie; Athanasiou-Fragkouli, Alkyoni; Necpal, Jan; Straka, Igor; Tamas, Gertrud; Kurca, Egon; Mosejova, Alexandra; Han, Vladimir; Lorincova, Tatiana; Ostrozovicova, Miriam; Liesenerova, Simona; Levicka, Petra; Fajcikova, Lucia; Minar, Michal; Valkovic, Peter; Makos, Orsolya; Kelemen, Andrea; Grofik, Milan; Cibulka, Michal; Jama, Fatumah; Houlden, Henry

研究方向

暂未获取到该数据
M
Matěj Škorvánek
H 指数:28论文数:151被引数:2,848
R
Robert Jech
H 指数:43论文数:377被引数:7,526
K
Kristína Kulcsárová
H 指数:9论文数:30被引数:317
V
Vladimír Haň
H 指数:17论文数:47被引数:1,108
M
Michael Zech
H 指数:26论文数:185被引数:2,759
P
Petra Havránková
H 指数:20论文数:64被引数:1,761
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.5万
J
Ján Necpál
H 指数:14论文数:68被引数:860
A
Alexandra Lacková
H 指数:5论文数:18被引数:103
R
Riccardo Berutti
H 指数:29论文数:99被引数:3,789