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P

Petra Havránková

Charles University
H指数:20
被引数:1,736

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KCNA2 ‐Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment

<scp> <i>KCNA2</i> </scp> 相关遗传性痉挛性截瘫痷：临床特征及靶向治疗依据

Movement Disorders
IF7.6
2026-10-070
PRE
Christian M. Boßelmann; Martin Vyhnalek; Zuzana Blichova; Ludmila Novotna; Anna Uhrova Meszarosova; Petra Havránková; Elena Kuster; Robert J. Lauerer; Ulrike B.S. Hedrich; Hang Lyu; Mayke Oosterloo; Michael Alber; Ludger Schöls; Karen Müller‐Schlüter; Almut Turid Bischoff; Thomas Klopstock; Georgios Koutsis; Georgia Karadima; Stephanie Efthymiou; Henry Houlden; Ainara Salazar‐Villacorta; Colin A. Ellis; Anna Scheper; Dieter Gläser; Tobias B. Haack; Matias Wagner; Michael Zech; Konrad Platzer; Pasquale Striano; Steffen Syrbe; Rebecca Schüle; Holger Lerche
Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia

纳米孔长读测序促进KMT2B相关肌张力障碍的准确诊断

Clinical Epigenetics
IF4.4
2026-09-170
OAAI
Ugo Sorrentino; Nazanin Mirza-Schreiber; Martin Pavlov; Fatemeh Peymani; Petra Havrankova; Elisabetta Indelicato; Tereza Serranová; Lukas Kunc; Sandy Lösecke; Erik Tilch; Sebastian Eck; Holger Prokisch; Juliane Winkelmann; Sylvia Boesch; Robert Jech; Elisabeth Graf; Konrad Oexle; Michael Zech
Monogenic forms of Parkinson's disease: a Czech cohort study

帕金森病的单基因形式：一项捷克队列研究

Neurologia i Neurochirurgia Polska
IF2.6
2026-05-010
PRE
Holly, Petr; Hirschfeldova, Katerina; Koktanova, Lucie; Mazura, Ivan; Dusek, Petr; Zarubova, Katerina; Jech, Robert; Havrankova, Petra; Ruzicka, Filip; Serranova, Tereza; Fiala, Ondrej; Klempir, Jiri; Bezdicek, Ondrej; Kemlink, David; Horinek, Ales; Obeidova, Lena; Mazura, Dan; Ruzicka, Evzen
Collaborative Genomics for Dystonia in Central and Eastern Europe: Successes Achieved, New Frontiers Ahead

中欧和东欧肌张力障碍的协作基因组学研究：已取得的成就，新的前沿在望

Movement Disorders
IF7.6
2026-04-020
OAAI
Robert Jech MD, PhD; Petra Havránková MD, PhD; Eugenia Tsoma MD; Lukáš Kunc MD; Tomáš Krajča MD; Ján Necpál MD; Olga Ulmanová MD, PhD; Aleksandra Tomic MD; Ivana Dzinovic PhD; Irena Rektorová MD, PhD; Marek Baláž MD; Tereza Serranová MD; Stanislava Jaselska MD; Maria Giertlova MD; Kristina Kulcsarova MD; Alexandra Lackova MD; Denisa Harvanova MD; Miriam Ostrozovicova MD; Vladimir Han MD; GenDy Collaborators; Matej Škorvánek MD, PhD; Michael Zech MD
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

成纤维细胞转录组学在综合肌张力障碍队列分子诊断中的应用

Annals of Neurology
IF7.7
2026-02-020
OAAI
Alice Saparov MSc; Ivana Dzinovic PhD; Theresa Brunet MD; Vicente A. Yépez PhD; Florian Hölzlwimmer PhD; Elisabetta Indelicato MD; Birgit Assmann MD; Susann Badmann MD; Diana Ballhausen MD; Steffen Berweck MD; Felix Brechtmann PhD; Melanie Brugger MD; Kevork Derderian MSc; Felix Distelmaier MD; Philip Harrer MD, PhD; Denisa Harvanova PhD; Petra Havrankova MD, PhD; Ann-Kathrin Jaroszynski; Miriam Kolnikova MD; Robert Kopajtich MSc; Anne Koy MD; Magdalena Krygier MD; Lukas Kunc MD; Katarina Kusikova MD; Oliver Maier MD; Maria Mazurkiewicz-Bełdzińska MD; Christian Mertes PhD; Ava Oberlack MD; Timo Roser MD; Alexandra Sitzberger MD; Ugo Sorrentino MD; Antonia M. Stehr MD; Katharina Vill MD; Matias Wagner MD; Holger Prokisch PhD; Sylvia Boesch MD, PhD; Jan Necpal MD, PhD; Robert Jech MD, PhD; Juliane Winkelmann MD; Elisabeth Graf PhD; Julien Gagneur PhD; Matej Skorvanek MD, PhD; Michael Zech MD
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

整合长读长纳米孔测序技术以精确解析肌张力障碍中的基因组变异

MOVEMENT DISORDERS
IF7.6
2025-09-010
OAAI
Sorrentino, Ugo; Pavlov, Martin; Mirza-Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M.; Wagner, Matias; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne; Di Fonzo, Alessio; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra; Tautanova, Raushana; Losecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan; Skorvanek, Matej; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Oexle, Konrad; Graf, Elisabeth; Zech, Michael
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
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
COMMUNICATIONS BIOLOGY
IF5.1
2024-07-082
OAAI
Ghaffar, Amama; Akhter, Tehmeena; Stromme, Petter; Misceo, Doriana; Khan, Amjad; Frengen, Eirik; Umair, Muhammad; Isidor, Bertrand; Cogne, Benjamin; Khan, Asma A.; Bruel, Ange-Line; Sorlin, Arthur; Kuentz, Paul; Chiaverini, Christine; Innes, A. Micheil; Zech, Michael; Balaz, Marek; Havrankova, Petra; Jech, Robert; Ahmed, Zubair M.; Riazuddin, Sheikh; Riazuddin, Saima
Effect of Intra-arrest Transport, Extracorporeal Cardiopulmonary Resuscitation, and Immediate Invasive Assessment and Treatment on Functional Neurologic Outcome in Refractory Out-of-Hospital Cardiac Arrest A Randomized Clinical Trial
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
IF55
2022-02-22336
OA
Belohlavek, Jan; Smalcova, Jana; Rob, Daniel; Franek, Ondrej; Smid, Ondrej; Pokorna, Milana; Horak, Jan; Mrazek, Vratislav; Kovarnik, Tomas; Zemanek, David; Kral, Ales; Havranek, Stepan; Kavalkova, Petra; Kompelentova, Lucie; Tomkova, Helena; Mejstrik, Alan; Valasek, Jaroslav; Peran, David; Pekara, Jaroslav; Rulisek, Jan; Balik, Martin; Huptych, Michal; Jarkovsky, Jiri; Malik, Jan; Valerianova, Anna; Mlejnsky, Frantisek; Kolouch, Petr; Havrankova, Petra; Romportl, Dan; Komarek, Arnost; Linhart, Ales
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

研究方向

暂未获取到该数据
R
Robert Jech
H 指数:43论文数:377被引数:7,443
M
Michael Zech
H 指数:26论文数:185被引数:2,709
M
Matěj Škorvánek
H 指数:28论文数:151被引数:2,796
J
Ján Necpál
H 指数:14论文数:68被引数:847
M
Matias Wagner
H 指数:37论文数:260被引数:4,670
J
Juliane Winkelmann
H 指数:32论文数:162被引数:4,451
S
Sylvia Boesch
H 指数:57论文数:255被引数:1.2万
V
Vladimír Haň
H 指数:17论文数:47被引数:1,102
E
Evžen Růžička
H 指数:54论文数:445被引数:1.1万
T
Tereza Serranová
H 指数:19论文数:94被引数:1,251