日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study

深部脑刺激治疗VPS16相关肌张力障碍:一项多中心研究

Svorenova, Tatiana; Romito, Luigi M; Kaymak, Ahmet; Mulroy, Eoin; Cif, Laura; Moro, Elena; Zeuner, Kirsten E; Zittel, Simone; Petry-Schmelzer, Jan Niklas; Gruber, Doreen; Centen, Liesanne; Albanese, Alberto; Ostrozovicova, Miriama; Han, Vladimir; Magocova, Veronika; Knorovsky, Kamil; Kollova, Aurelia; Garavaglia, Barbara; Golfrè-Andreasi, Nico; Reale, Chiara; Mazzoni, Alberto; Zorzi, Giovanna; Eleopra, Roberto; Levi, Vincenzo; Foltynie, Thomas; Limousin, Patricia; Akram, Harith; Zrinzo, Ludvic; Magrinelli, Francesca; Murphy, David; Houlden, Henry; Kurian, Manju A; Baiata, Claudio; Paschen, Steffen; Lohmann, Katja; Volkmann, Jens; Hamel, Wolfgang; Barbe, Michael T; van Egmond, Martje E; Tijssen, Maj; Ambro, Lubos; Jurkova, Veronika; Jech, Robert; Havrankova, Petra; Winkelmann, Juliane; Zech, Michael; Skorvanek, Matej

Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease

LRRK2 p.L1795F 变异在中欧早发性和家族性帕金森病患者中的患病率和临床特征

Ostrozovicova, Miriam; Tamas, Gertrud; Atputhavadivel, Agsha; Dusek, Petr; Grofik, Milan; Han, Vladimir; Holly, Petr; Jech, Robert; Kalinova, Katarina; Klivenyi, Peter; Kovacs, Norbert; Kulcsarova, Kristina; Kurca, Egon; Lackova, Alexandra; Lee, Hamin; Lewis, Patrick; Magocova, Veronika; Marekova, Maria; Murphy, David; Nagano, Ai; Necpal, Jan; Pinter, David; Rabajdova, Miroslava; Ruzicka, Evzen; Serranova, Tereza; Smilowska, Katarzyna; Soos, Krisztina; Straka, Igor; Svorenova, Tatiana; Valkovic, Peter; Zarubova, Katerina; Gdovinova, Zuzana; Houlden, Henry; Rizig, Mie; Skorvanek, Matej

Central European Group on Genetics of Movement Disorders

中欧运动障碍遗传学研究组

Ostrozovicova, Miriam; Dusek, Petr; Grofik, Milan; Han, Vladimir; Holly, Petr; Jech, Robert; Klivenyi, Peter; Kovacs, Norbert; Kulcsarova, Kristina; Kurca, Egon; Lackova, Alexandra; Magocova, Veronika; Necpal, Jan; Pinter, David; Ruzicka, Evzen; Serranova, Tereza; Smilowska, Katarzyna; Straka, Igor; Svorenova, Tatiana; Tamas, Gertrud; Valkovic, Peter; Zarubova, Katerina; Houlden, Henry; Rizig, Mie; Skorvanek, Matej

p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central Europe.

p.L1795F LRRK2 变异是中欧地区帕金森病的常见病因

Ostrozovicova Miriam, Tamas Gertrud, Dušek Petr, Grofik Milan, Han Vladimir, Holly Petr, Jech Robert, Kalinova Katarina, Klivenyi Peter, Kovacs Norbert, Kulcsarova Kristina, Kurca Egon, Lackova Alexandra, Lee Hamin, Lewis Patrick, Magocova Veronika, Marekova Maria, Murphy David, Necpal Jan, Pinter David, Rabajdova Miroslava, Růžička Evžen, Serranova Tereza, Smilowska Katarzyna, Soos Krisztina, Straka Igor, Svorenova Tatiana, Valkovic Peter, Zarubova Katerina, Gdovinova Zuzana, Houlden Henry, Rizig Mie, Skorvanek Matei

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

ZNF142基因的隐性变异会导致一种复杂的神经发育障碍,伴有智力障碍、语言障碍、癫痫和肌张力障碍。

Khan, Kamal; Zech, Michael; Morgan, Angela T; Amor, David J; Skorvanek, Matej; Khan, Tahir N; Hildebrand, Michael S; Jackson, Victoria E; Scerri, Thomas S; Coleman, Matthew; Rigbye, Kristin A; Scheffer, Ingrid E; Bahlo, Melanie; Wagner, Matias; Lam, Daniel D; Berutti, Riccardo; Havránková, Petra; Fečíková, Anna; Strom, Tim M; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Laccone, Franco; Jameel, Muhammad; Mooney, Marie R; Baig, Shahid M; Jech, Robert; Davis, Erica E; Katsanis, Nicholas; Winkelmann, Juliane

Differences in MDS-UPDRS Scores Based on Hoehn and Yahr Stage and Disease Duration

基于Hoehn和Yahr分期及病程的MDS-UPDRS评分差异

Skorvanek, Matej; Martinez-Martin, Pablo; Kovacs, Norbert; Rodriguez-Violante, Mayela; Corvol, Jean-Christophe; Taba, Pille; Seppi, Klaus; Levin, Oleg; Schrag, Anette; Foltynie, Thomas; Alvarez-Sanchez, Mario; Arakaki, Tomoko; Aschermann, Zsuzsanna; Aviles-Olmos, Iciar; Benchetrit, Eve; Benoit, Charline; Bergareche-Yarza, Alberto; Cervantes-Arriaga, Amin; Chade, Anabel; Cormier, Florence; Datieva, Veronika; Gallagher, David A; Garretto, Nelida; Gdovinova, Zuzana; Gershanik, Oscar; Grofik, Milan; Han, Vladimir; Huang, Jing; Kadastik-Eerme, Liis; Kurtis, Monica M; Mangone, Graziella; Martinez-Castrillo, Juan Carlos; Mendoza-Rodriguez, Amelia; Minar, Michal; Moore, Henry P; Muldmaa, Mari; Mueller, Christoph; Pinter, Bernadette; Poewe, Werner; Rallmann, Karin; Reiter, Eva; Rodriguez-Blazquez, Carmen; Singer, Carlos; Tilley, Barbara C; Valkovic, Peter; Goetz, Christopher G; Stebbins, Glenn T

Fatigue, Sleep Disturbances, and Their Influence on Quality of Life in Cervical Dystonia Patients

疲劳、睡眠障碍及其对颈肌张力障碍患者生活质量的影响

Smit, Marenka; Kamphuis, Arwen S J; Bartels, Anna L; Han, Vladimir; Stewart, Roy E; Zijdewind, Inge; Tijssen, Marina A

The Frequency and Self-perceived Impact on Daily Life of Motor and Non-motor Symptoms in Cervical Dystonia

颈肌张力障碍患者运动和非运动症状的发生频率及其对日常生活的自我感知影响

Smit, Marenka; Bartels, Anna L; Kuiper, Anouk; Kamphuis, Arwen S J; Han, Vladimir; Tijssen, Marina A J

Fluorescent ampicillin analogues as multifunctional disguising agents against opsonization

荧光氨苄青霉素类似物作为抗调理作用的多功能伪装剂

Nalinikanth Kotagiri, Joshua Sakon, Haewook Han, Vladimir P Zharov, Jin-Woo Kim

Validation of the Official Slovak Version of the Unified Dyskinesia Rating Scale (UDysRS)

统一运动障碍评定量表(UDysRS)斯洛伐克官方版本的验证

Skorvanek, Matej; Minar, Michal; Grofik, Milan; Kracunova, Katarina; Han, Vladimir; Cibulcik, Frantisek; Necpal, Jan; Gurcik, Ladislav; Valkovic, Peter