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Atypical presentations of DYT1 dystonia with acute craniocervical onset
by
Pavelekova, P.
,
Jech, R.
,
Zech, M.
,
Krepelova, A.
,
Han, V.
,
Mosejova, A.
,
Liba, Z.
,
Urgosik, D.
,
Gdovinova, Z.
,
Havrankova, P.
,
Fecikova, A.
,
Winkelmann, J.
,
Skorvanek, M.
Published in
Parkinsonism & related disorders
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Atypical presentations of DYT1 dystonia with acute craniocervical onset
by
Pavelekova, P
,
Jech, R
,
Zech, M
,
Krepelova, A
,
Han, V
,
Mosejova, A
,
Liba, Z
,
Urgosik, D
,
Gdovinova, Z
,
Havrankova, P
,
Fecikova, A
,
Winkelmann, J
,
Skorvanek, M
Published in
Parkinsonism & related disorders
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The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria
by
Mainka, Tina
,
Fischer, Jan-Frederik
,
Huebl, Julius
,
Jung, Alexandra
,
Lier, Dinah
,
Mosejova, Alexandra
,
Skorvanek, Matej
,
de Koning, Tom J.
,
Kühn, Andrea A.
,
Freisinger, Peter
,
Ziagaki, Athanasia
,
Ganos, Christos
Published in
Parkinsonism & related disorders
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Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochond...
by
Dosekova, Petra
,
Dubiel, Andrzej
,
Karlowicz, Anna
,
Zietkiewicz, Szymon
,
Rydzanicz, Malgorzata
,
Habalova, Viera
,
Pienkowski, Victor Murcia
,
Skirkova, Miriam
,
Han, Vladimir
,
Mosejova, Alexandra
,
Gdovinova, Zuzana
,
Kaliszewska, Magdalena
,
Tońska, Katarzyna
,
Szymanski, Michal R.
,
Skorvanek, Matej
,
Ploski, Rafal
Published in
European journal of medical genetics
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Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study
by
Zech, Michael
,
Jech, Robert
,
Boesch, Sylvia
,
Škorvánek, Matej
,
Necpál, Ján
,
Švantnerová, Jana
,
Wagner, Matias
,
Sadr‐Nabavi, Ariane
,
Distelmaier, Felix
,
Krenn, Martin
,
Serranová, Tereza
,
Rektorová, Irena
,
Havránková, Petra
,
Mosejová, Alexandra
,
Příhodová, Iva
,
Šarláková, Jana
,
Kulcsarová, Kristína
,
Ulmanová, Olga
,
Bechyně, Karel
,
Ostrozovičová, Miriam
,
Haň, Vladimír
,
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
Published in
Movement disorders
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LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study
by
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
,
Mákos, Orsolya
,
Kelemen, Andrea
,
Grofik, Milan
,
Cibulka, Michal
,
Jama, Fatumah
,
Houlden, Henry
,
Sendekova, Daniela
,
Cobejova, Jana
,
Cobej, Martin
,
Sukovska, Viktoria
,
Pálvölgyi, Károlyné
,
Kovacs, Norbert
,
Pintér, David
,
Ruzicka, Evzen
,
Holly, Petr
,
Dusek, Petr
,
Starkova, Irena
,
Brdkova, Jana
,
Smilowska, Katarzyna
,
Falup-Pecurariu, Cristian
,
Diaconu, Stefania
,
Klivenyi, Peter
,
Balaz, Marek
Published in
Parkinsonism & related disorders
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Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
by
Zech, Michael
,
Boesch, Sylvia
,
Škorvánek, Matej
,
Necpál, Ján
,
Švantnerová, Jana
,
Wagner, Matias
,
Dincer, Yasemin
,
Sadr-Nabavi, Ariane
,
Serranová, Tereza
,
Rektorová, Irena
,
Havránková, Petra
,
Ganai, Shahzaman
,
Mosejová, Alexandra
,
Příhodová, Iva
,
Šarláková, Jana
,
Kulcsarová, Kristína
,
Ulmanová, Olga
,
Bechyně, Karel
,
Ostrozovičová, Miriam
,
Haň, Vladimír
,
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
Published in
Parkinsonism & related disorders
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Pseurotin D Induces Apoptosis through Targeting Redox Sensitive Pathways in Human Lymphoid Leukemia Cells
by
Mosejová, Eva
,
Bosnjakovic, Rebeka
,
Kubala, Lukáš
,
Vašíček, Ondřej
Published in
Antioxidants
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Answer to Finsterer about “Multisystem presentation of a homozygous POLG2 variant”
by
Dosekova, Petra
,
Dubiel, Andrzej
,
Karlowicz, Anna
,
Zietkiewicz, Szymon
,
Rydzanicz, Malgorzata
,
Habalova, Viera
,
Pienkowski, Victor Murcia
,
Skirkova, Miriam
,
Han, Vladimir
,
Mosejova, Alexandra
,
Gdovinova, Zuzana
,
Kaliszewska, Magdalena
,
Tońska, Katarzyna
,
Szymanski, Michal R.
,
Skorvanek, Matej
,
Ploski, Rafal
Published in
European journal of medical genetics
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