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J

Ján Necpál

zvolen hospital
H指数:14
被引数:858

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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
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients
Brain
IF11.7
2025-08-140
PRE
Vicente Quiroz; Julian E Alecu; Umar Zubair; Katerina Bernardi; Zainab Zaman; Joshua Rong; Amy Tam; Avaneesh Kunta; Habibah A P Agianda; Nicole Battaglia; Henri J D Schmidt; Dario Resch; Noah Wyman; Lindsey M Vogt; Wafa Bani Uraba; Leonie F Becker; Kavitha Kothur; Deepak Gill; Bernardita Suarez; Javiera I Jofre; Carolina Arias; Claudia Castiglioni; Patricia Dumke da Silva Möller; Andre Felipe Pinto Duarte; Alexander Eggers-Lisboa; Loreto Ríos-Pohl; Magdalena Gonzalez-Ubilla; Chinmay Chaudhari; Ainara Salazar-Villacorta; Xiaojuan Tian; Lifang Dai; Changhong Ding; Mina Zamani; Pardis Nourbakhsh; Gholamreza Shariati; Tamara Pringsheim; Wei Kang Lim; Emanuele Bartolini; Maria Stamelou; Poonam Bhatia; Michael C Kruer; Soaham Desai; Mary Iype; Ján Necpál; David Crosiers; Hannah F Jones; Javier Ricardo Perez-Sanchez; Esra Demir Unal; Nuria Lopez-Ariztegui; Sruthi Kola; Wei-Sheng Lin; Alia Hassan Mansour; Chahnez Charfi Triki; Emilio Fernandez-Alvarez; Emmanuel Roze; Jitendra Kumar Sahu; Asif Doja; Nardo Nardocci; Davide Caputo; Anne Koy; Sanjay Bhate; Marios Kaliakatsos; Robert Robinson; Jane Hassell; Roser Pons; Alexander Munchau; Luca Soliani; Alonso Zea-Vera; Laura Tochen; Hugo Morales-Briceño; Russell C Dale; Alissa D’Gama; Tobias Loddenkemper; Phillip L Pearl; Shekeeb S Mohammad; Manju A Kurian; Carolina Gorodetsky; Juan Darío Ortigoza-Escobar; Luca Schierbaum; Kathryn Yang; Darius Ebrahimi-Fakhari
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
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
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

CUL3中的功能丧失变体导致综合征性神经发育障碍

ANNALS OF NEUROLOGY
IF7.7
2024-09-202
PRE
Blackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

ATP2B2从头变体是可变神经发育障碍的原因，其特征是肌张力障碍，共济失调，智力障碍，行为症状和癫痫发作

GENETICS IN MEDICINE
IF6.2
2023-12-015
OAAI
Poggio, Elena; Barazzuol, Lucia; Salmaso, Andrea; Milani, Celeste; Deligiannopoulou, Adamantia; Cazorla, Angeles Garcia; Jang, Se Song; Julia-Palacios, Natalia; Keren, Boris; Kopajtich, Robert; Lynch, Sally Ann; Mignot, Cyril; Moorwood, Catherine; Neuhofer, Christiane; Nigro, Vincenzo; Oostra, Anna; Prokisch, Holger; Saillour, Virginie; Schuermans, Nika; Torella, Annalaura; Verloo, Patrick; Yazbeck, Elise; Zollino, Marcella; Jech, Robert; Winkelmann, Juliane; Necpal, Jan; Cali, Tito; Brini, Marisa; Zech, Michael
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study

咖啡因对ADCY5-Related运动障碍的疗效: 一项回顾性研究

MOVEMENT DISORDERS
IF7.6
2022-04-0518
PRE
Meneret, Aurelie; Mohammad, Shekeeb S.; Cif, Laura; Doummar, Diane; DeGusmao, Claudio; Anheim, Mathieu; Barth, Magalie; Damier, Philippe; Demonceau, Nathalie; Friedman, Jennifer; Gallea, Cecile; Gras, Domitille; Gurgel-Giannetti, Juliana; Innes, Emily A.; Necpal, Jan; Riant, Florence; Sagnes, Sandrine; Sarret, Catherine; Seliverstov, Yury; Paramanandam, Vijayashankar; Shetty, Kuldeep; Tranchant, Christine; Doulazmi, Mohamed; Vidailhet, Marie; Pringsheim, Tamara; Roze, Emmanuel
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
BRAIN
IF11.7
2021-09-3023
OA
Mirza-Schreiber, Nazanin; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane; Oexle, Konrad

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:7,510
M
Michael Zech
H 指数:26论文数:185被引数:2,751
M
Matěj Škorvánek
H 指数:28论文数:151被引数:2,841
P
Petra Havránková
H 指数:20论文数:64被引数:1,757
S
Sylvia Boesch
H 指数:57论文数:255被引数:1.2万
J
Juliane Winkelmann
H 指数:32论文数:162被引数:4,492
M
Matias Wagner
H 指数:37论文数:260被引数:4,732
V
Vladimír Haň
H 指数:17论文数:47被引数:1,108
T
Theresa Brunet
H 指数:22论文数:97被引数:1,669
M
Miriam Ostrožovičová
H 指数:7论文数:24被引数:174