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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 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 分享 收藏
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 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 分享 收藏
Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype Svorenova, Tatiana; Romito, Luigi M.; Colangelo, Isabel; Han, Vladimir; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Skorvanek, Matej; Garavaglia, Barbara; Zech, Michael 分享 收藏
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 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 分享 收藏
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series Dzinovic, Ivana; Skorvanek, Matej; Necpal, Jan; Boesch, Sylvia; Svantnerova, Jana; Wagner, Matias; Havrankova, Petra; Pavelekova, Petra; Han, Vladimir; Janzarik, Wibke G.; Berweck, Steffen; Diebold, Isabel; Kuster, Alice; Jech, Robert; Winkelmann, Juliane; Zech, Michael 分享 收藏
Comparison in detection of prodromal Parkinson's disease patients using original and updated MDS research criteria in two independent cohorts Kulcsarova, Kristina; Ventosa, Joaquim Ribeiro; Feketeova, Eva; Maretta, Milan; Lesko, Norbert; Benca, Miroslav; Han, Vladimir; Gombosova, Laura; Baloghova, Janette; Slavkovska, Miriam; Brosmanova, Maria; Vancova, Zuzana; Lepej, Jan; Rabajdova, Miroslava; Ambro, Lubos; Toth, Stefan; Kudela, Filip; Kudela, Igor; Strigacova, Lujza; Roskovicova, Veronika; Gdovinova, Zuzana; Skorvanek, Matej 分享 收藏
Recurrent VPS16 p.Arg187*Nonsense Variant in Early- Onset Generalized Dystonia Ostrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; Kurian, Manju A.; Wiethoff, Sarah; Houlden, Henry; Havrankova, Petra; Winkelmann, Julianne; Zech, Michael; Skorvanek, Matej 分享 收藏
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study 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 分享 收藏
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia 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 分享 收藏
LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study 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 分享 收藏
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia Zech, Michael; Brunet, Theresa; Skorvanek, Matej; Blaschek, Astrid; Vill, Katharina; Hanker, Britta; Huning, Irina; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Ruzicka, Evzen; Kamsteeg, Erik-Jan; van der Smagt, Jasper J.; Wagner, Matias; Jech, Robert; Winkelmann, Juliane 分享 收藏
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia 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; Havrankova, Petra; Fecikova, 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 分享 收藏
Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype? Skorvanek, Matej; Dusek, Petr; Rydzanicz, Malgorzata; Walczak, Anna; Kosinska, Joanna; Kostrzewa, Grazyna; Brzozowska, Malgorzata; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Lehotska, Zdenka; Lisowski, Pawel; Ploski, Rafal 分享 收藏
α-Synuclein Antibody 5G4 Identifies Manifest and Prodromal Parkinson's Disease in Colonic Mucosa Skorvanek, Matej; Gelpi, Ellen; Mechirova, Eva; Ladomirjakova, Zuzana; Han, Vladimir; Lesko, Norbert; Feketeova, Eva; Repkova, Barbora; Urbancikova, Zuzana; Vargova, Adriana; Spisak, Peter; Ventosa, Joaquim Ribeiro; Kudela, Filip; Kulcsarova, Kristina; Babinska, Simona; Toth, Stefan; Gombosova, Laura; Zakuciova, Maria; Veseliny, Eduard; Trebuna, Frantisek; Lutz, Mirjam I.; Gdovinova, Zuzana; Kovacs, Gabor G. 分享 收藏
Relationship between the MDS-UPDRS and Quality of Life: A large multicenter study of 3206 patients Skorvanek, Matej; Martinez-Martin, Pablo; Kovacs, Norbert; Zezula, Ivan; Rodriguez-Violante, Mayela; Corvol, Jean-Christophe; Taba, Pille; Seppi, Klaus; Levin, Oleg; Schrag, Anette; Aviles-Olmos, Iciar; Alvarez-Sanchez, Mario; Arakaki, Tomoko; Aschermann, Zsuzsanna; 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; 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; Valkovic, Peter; Goetz, Christopher G.; Stebbins, Glenn T. 分享 收藏
Prevalence of Prodromal Parkinson's Disease as Defined by MDS Research Criteria among Elderly Patients Undergoing Colonoscopy Skorvanek, Matej; Ladomirjakova, Zuzana; Han, Vladimir; Lesko, Norbert; Feketeova, Eva; Jarcuskova, Dominika; Repkova, Barbora; Spisak, Peter; Urbancikova, Zuzana; Vargova, Adriana; Gombosova, Laura; Zakuciova, Maria; Veseliny, Eduard; Trebuna, Frantisek; Mechirova, Eva; Gdovinova, Zuzana 分享 收藏
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency Olgiati, Simone; Skorvanek, Matej; Quadri, Marialuisa; Minneboo, Michelle; Graafland, Josja; Breedveld, Guido J.; Bonte, Ramon; Ozgur, Zeliha; van den Hout, Mirjam C. G. N.; Schoonderwoerd, Kees; Verheijen, Frans W.; van IJcken, Wilfred F. J.; Chien, Hsin Fen; Barbosa, Egberto Reis; Chang, Hsiu-Chen; Lai, Szu-Chia; Yeh, Tu-Hsueh; Lu, Chin-Song; Wu-Chou, Yah-Huei; Kievit, Anneke J. A.; Han, Vladimir; Gdovinova, Zuzana; Jech, Robert; Hofstra, Robert M. W.; Ruijter, George J. G.; Mandemakers, Wim; Bonifati, Vincenzo 分享 收藏
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