Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy
Pascual-Goñi, Elba, Fehmi, Janev, Lleixà, Cinta, Martín-Aguilar, Lorena, Devaux, Jérôme, Höftberger, Romana, Delmont, Emilien, Doppler, Kathrin, Sommer, Claudia, Radunovic, Aleksandar, Carvajal, Alejandra, Smyth, Shane, Williams, Laura, Mazanec, Radim, Potočková, Veronika, Hinds, Nigel, Cassereau, Julien, Viala, Karine, Lefilliatre, Mathilde, Nicolas, Guillaume, Foley, Peter, Leypoldt, Frank, Keddie, Stephen, Lunn, Michael P, Zimprich, Fritz, Nunkoo, Vharoon Sharma, Löscher, Wolfgang N, Martínez-Martínez, Laura, Díaz-Manera, Jordi, Rojas-Garcia, Ricard, Illa, Isabel, Rinaldi, Simon, Querol, Luis
Published in Brain (London, England : 1878) (07.05.2021)
Published in Brain (London, England : 1878) (07.05.2021)
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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Confirmation of the GNB4 gene as causal for charcot-marie-tooth disease by a novel de novo mutation in a czech patient
Petra, Laššuthová, Dana, Šafka Brožková, Jana, Neupauerová, Marcela, Krůtová, Radim, Mazanec, Pavel, Seeman
Published in Neuromuscular disorders : NMD (01.01.2017)
Published in Neuromuscular disorders : NMD (01.01.2017)
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Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene
Musova, Zuzana, Mazanec, Radim, Krepelova, Anna, Ehler, Edvard, Vales, Jiri, Jaklova, Radka, Prochazka, Tomas, Koukal, Petr, Marikova, Tatana, Kraus, Josef, Havlovicova, Marketa, Sedlacek, Zdenek
Published in American journal of medical genetics. Part A (01.07.2009)
Published in American journal of medical genetics. Part A (01.07.2009)
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CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel
Skálová, Daniela, Zídková, Jana, Voháňka, Stanislav, Mazanec, Radim, Mušová, Zuzana, Vondráček, Petr, Mrázová, Lenka, Kraus, Josef, Réblová, Kamila, Fajkusová, Lenka
Published in PloS one (11.12.2013)
Published in PloS one (11.12.2013)
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Autologous Bone Marrow Transplantation in Patients with Subacute and Chronic Spinal Cord Injury
Syková, Eva, Homola, Aleš, Mazanec, Radim, Lachmann, Hynek, Konrádová, ŠImona Langkramer, Kobylka, Petr, Pádr, Radek, Neuwirth, Jiří, Komrska, Vladimír, Vávra, Vladimír, Štulík, Jan, Bojar, Martin
Published in Cell transplantation (01.01.2006)
Published in Cell transplantation (01.01.2006)
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Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Díaz-Manera, Jordi, Dogan, Celine, El Sherif, Rasha, Fossati, Barbara, Graham, Caroline, Hilbert, James, Kastreva, Kristinia, Kimura, En, Korngut, Lawrence, Kostera-Pruszczyk, Anna, Lindberg, Christopher, Lindvall, Bjorn, Luebbe, Elizabeth, Lusakowska, Anna, Mazanec, Radim, Meola, Giovani, Orlando, Liannna, Takahashi, Masanori P, Peric, Stojan, Puymirat, Jack, Rakocevic-Stojanovic, Vidosava, Rodrigues, Miriam, Roxburgh, Richard, Schoser, Benedikt, Segovia, Sonia, Shatillo, Andriy, Thiele, Simone, Tournev, Ivailo, van Engelen, Baziel, Vohanka, Stanislav, Lochmüller, Hanns
Published in Orphanet journal of rare diseases (15.08.2019)
Published in Orphanet journal of rare diseases (15.08.2019)
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Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease
Laššuthová, Petra, Žaliová, Markéta, Inoue, Ken, Haberlová, Jana, Sixtová, Klára, Sakmaryová, Iva, Paděrová, Kateřina, Mazanec, Radim, Zámečník, Josef, Šišková, Dana, Garbern, Jim, Seeman, Pavel
Published in Journal of child neurology (01.07.2014)
Published in Journal of child neurology (01.07.2014)
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Journal Article
Evaluation of muscle strength and manual dexterity in patients with Charcot-Marie-Tooth disease
Kobesova, Alena, MD, PhD, Nyvltova, Marcela, MPT, Kraus, Josef, MD, PhD, Kolar, Pavel, PaedDr, PhD, Sardina, Angela, MS, Mazanec, Radim, MD, PhD, Andel, Ross, PhD
Published in Journal of hand therapy (2016)
Published in Journal of hand therapy (2016)
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Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients
BROŽKOVÁ, DANA ŠAFKA, POSÁDKA, JAN, LAŠŠUTHOVÁ, PETRA, MAZANEC, RADIM, HABERLOVÁ, JANA, ŠIŠKOVÁ, DANA, SAKMARYOVÁ, IVA, NEUPAUEROVÁ, JANA, SEEMAN, PAVEL
Published in Molecular medicine reports (01.12.2013)
Published in Molecular medicine reports (01.12.2013)
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Muscle lymphocytic infiltrates in thymoma-associated myasthenia gravis are phenotypically different from those in polymyositis
Zamecnik, Josef, Vesely, Dan, Jakubicka, Branislav, Simkova, Libuse, Pitha, Jiri, Schutzner, Jan, Mazanec, Radim, Vogel, Hannes
Published in Neuromuscular disorders : NMD (01.12.2007)
Published in Neuromuscular disorders : NMD (01.12.2007)
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Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients
Hermanová, Markéta, Zapletalová, Eva, Sedláčková, Jana, Chrobáková, Táňa, Letocha, Ondřej, Kroupová, Iva, Zámečník, Josef, Vondráček, Petr, Mazanec, Radim, Maříková, Taťána, Voháňka, Stanislav, Fajkusová, Lenka
Published in Muscle & nerve (01.03.2006)
Published in Muscle & nerve (01.03.2006)
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Mutations in the LMNA gene do not cause axonal CMT in Czech patients
Lassuthová, Petra, Baránková, Lucia, Haberlová, Jana, Mazanec, Radim, Wallace, Andrew, Huehne, Kathrin, Rautenstrauss, Bernd, Seeman, Pavel
Published in Journal of human genetics (01.06.2009)
Published in Journal of human genetics (01.06.2009)
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Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
Safka Brozkova, Dana, Deconinck, Tine, Griffin, Laurie Beth, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R, Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A, De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, Baets, Jonathan
Published in Brain (London, England : 1878) (01.08.2015)
Published in Brain (London, England : 1878) (01.08.2015)
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Limb girdle muscular dystrophies
Mensová, Lívie, Baumgartner, Daniel, Potočková, Veronika, Mazanec, Radim
Published in Česká a Slovenská neurologie a neurochirurgie (31.12.2022)
Published in Česká a Slovenská neurologie a neurochirurgie (31.12.2022)
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Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease
Jahnová, Helena, Poupětová, Helena, Jirečková, Jitka, Vlášková, Hana, Košťálová, Eva, Mazanec, Radim, Zumrová, Alena, Mečíř, Petr, Mušová, Zuzana, Magner, Martin
Published in Journal of neurology (01.08.2019)
Published in Journal of neurology (01.08.2019)
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Genetic findings in Czech patients with limb girdle muscular dystrophy
Zídková, Jana, Kramářová, Tereza, Kopčilová, Johana, Réblová, Kamila, Haberlová, Jana, Mazanec, Radim, Voháňka, Stanislav, Gřegořová, Andrea, Langová, Martina, Honzík, Tomáš, Šoukalová, Jana, Ošlejšková, Hana, Solařová, Pavla, Vyhnálková, Emílie, Fajkusová, Lenka
Published in Clinical genetics (01.11.2023)
Published in Clinical genetics (01.11.2023)
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Thermal quantitative sensory testing as a screening tool for cardiac autonomic neuropathy in patients with diabetes mellitus
Potockova, Veronika, Mala, Sarka, Hoskovcova, Lucie, Capek, Vaclav, Nedelka, Tomas, Riedlbauchova, Lucie, Baumgartner, Daniel, Mensova, Livie, Mazanec, Radim
Published in Brain and behavior (01.03.2022)
Published in Brain and behavior (01.03.2022)
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Risk factors for depression and anxiety in painful and painless diabetic polyneuropathy: A multicentre observational cross‐sectional study
Kec, David, Rajdova, Aneta, Raputova, Jana, Adamova, Blanka, Srotova, Iva, Nekvapilova, Eva Kralickova, Michalcakova, Radka Neuzilova, Horakova, Magda, Belobradkova, Jana, Olsovsky, Jindrich, Weber, Pavel, Hajas, Gabriel, Kaiserova, Michaela, Mazanec, Radim, Potockova, Veronika, Ehler, Edvard, Forgac, Martin, Birklein, Frank, Üçeyler, Nurcan, Sommer, Claudia, Bednarik, Josef, Vlckova, Eva
Published in European journal of pain (01.02.2022)
Published in European journal of pain (01.02.2022)
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