Výsledky vyhledávání - Pavel Seeman

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  1. 1
    Cancer Risk of Heterozygotes With the NBN Founder Mutation

    Cancer Risk of Heterozygotes With the NBN Founder Mutation Autor E Seemanová, Petr Jarolı́m, Pavel Seeman, Raymonda Varon, Martin Digweed, M Swift, Karl Sperling

    Vydáno 2007
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  2. 2
    Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

    Improving diagnosis of inherited peripheral neuropathies through gene panel analysis Autor Petra Laššuthová, Dana Šafka Brožková, Marcela Krůtová, Jana Neupauerová, Jana Haberlová, Radim Mazanec, Pavel Dřímal, Pavel Seeman

    Vydáno 2016
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  3. 3
    MFN2 mutations cause compensatory mitochondrial DNA proliferation

    MFN2 mutations cause compensatory mitochondrial DNA proliferation Autor Kamil S. Sitarz, Patrick Yu‐Wai‐Man, Angela Pyle, Joanna D. Stewart, Bernd Rautenstrauß, Pavel Seeman, Mary M. Reilly, Rita Horváth, Patrick F. Chinnery

    Vydáno 2012
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  4. 4
    Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

    Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication Autor Christine R. Beck, Claudia M.B. Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M. McCahan, Marco Henneke, Pavel Seeman, James Garbern, Grace M. Hobson, James R. Lupski

    Vydáno 2015
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  5. 5
    Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

    Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I Autor Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens, Jonathan Baets, Anke Penno, Leonardo Almeida‐Souza, Kim van Hoof, An Jacobs, Els De Vriendt, Beate Schlotter‐Weigel, Wolfgang N. Löscher, Petr Vondráček, Pavel Seeman, Peter De Jonghe, Patrick Van Dijck, Albena Jordanova, Thorsten Hornemann, Vincent Timmerman

    Vydáno 2010
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  6. 6
    Loss of function mutations in<i>HARS</i>cause a spectrum of inherited peripheral neuropathies

    Loss of function mutations in<i>HARS</i>cause a spectrum of inherited peripheral neuropathies Autor Dana Šafka Brožková, Tine Deconinck, Laurie B. Griffin, A. Ferbert, Jana Haberlová, Radim Mazanec, Petra Laššuthová, Christian Roth, Thanita Pilunthanakul, Bernd Rautenstrauß, Andreas Janecke, Petra Zavadáková, Roman Chrast, Carlo Rivolta, Stephan Züchner, Anthony Antonellis, Asim A. Beg, Peter De Jonghe, Jan Senderek, Pavel Seeman, Jonathan Baets

    Vydáno 2015
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  7. 7
    Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

    Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability Autor Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A. J. Weterman, Claudia Gonzaga‐Jauregui, Charles F. Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauß, Klaus-Henning Krause, Mehrdad Khajavi, Jan Posadka, Antoon Vandenberghe, Francesc Palau, Lionel Van Maldergem, Frank Baas, Vincent Timmerman, James R. Lupski

    Vydáno 2010
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  8. 8
    Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

    Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy Autor Joy Irobi, Katrien Van Impe, Pavel Seeman, Albena Jordanova, Ines Dierick, Nathalie Verpoorten, Andrej Michalik, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Krist’l Vennekens, Radim Mazanec, Ivailo Tournev, David Hilton‐Jones, Kevin Talbot, Ivo Kremensky, Ludo Van Den Bosch, Wim Robberecht, Joël Vandekerckhove, Christine Van Broeckhoven, Jan Gettemans, Peter De Jonghe, Vincent Timmerman

    Vydáno 2004
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  9. 9
    Pontocerebellar hypoplasia type 1

    Pontocerebellar hypoplasia type 1 Autor Sabine Rudnik–Schöneborn, Jan Senderek, Joanna C. Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul‐Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Jürgen Seeger, Monique M. Ryan, Francesco Muntoni, Maja Steinlin, László Sztriha, J. Colomer, Christoph Hübner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, Andreas Holzinger, P. G. Barth, William Reardon, Michael Yourshaw, Stanley F. Nelson, Thomas Eggermann, Klaus Zerres

    Vydáno 2013
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  10. 10
    Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

    Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study Autor Ines Dierick, Jonathan Baets, Joy Irobi, An Jacobs, Els De Vriendt, Tine Deconinck, Luciano Merlini, Peter Van den Bergh, V. Milić Rašić, Wim Robberecht, Dirk Fischer, Raúl Juntas‐Morales, Zoran D‎. Mitrović, Pavel Seeman, Radim Mazanec, Andrzej Kochański, Albena Jordanova, Michaela Auer‐Grumbach, A.T.J.M. Helderman-van den Enden, J.H.J. Wokke, Eva Nelis, Peter De Jonghe, Vincent Timmerman

    Vydáno 2007
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  11. 11
    Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

    Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration Autor Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik–Schöneborn, Manoj P. Menezes, Ji Eun Hong, Derek W. Leong, Jan Senderek, Michael S. Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul‐Neumann, Andrew J. Kornberg, Manuel Castro‐Gago, María Jesús Sobrido, Masafumi Sanefuji, Perry B. Shieh, Noriko Salamon, Ronald C. Kim, Harry V. Vinters, Zugen Chen, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Joanna C. Jen

    Vydáno 2012
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  12. 12
    Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness

    Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness Autor Jingxia Wu, Sicong Ma, Roger Sandhoff, Yanan Ming, Agnes Hotz‐Wagenblatt, Vincent Timmerman, Nathalie Bonello‐Palot, Beate Schlotter‐Weigel, Michaela Auer‐Grumbach, Pavel Seeman, Wolfgang N. Löscher, Markus Reindl, Florian Weiß, Eric Y. Mah, Nina Weisshaar, Alaa Madi, Kerstin Möhr, Tilo Schlimbach, Rubí M.-H. Velasco Cárdenas, Jonas Koeppel, Florian Grünschläger, Lisann Müller, Maren Baumeister, Britta Brügger, Michael Schmitt, Guido Wabnitz, Yvonne Samstag, Guoliang Cui

    Vydáno 2019
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  13. 13
    Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

    Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2 Autor Petra Laššuthová, Adriana Rebelo, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Fiore Manganelli, Shawna Feely, Chelsea Bacon, Dana Šafka Brožková, Jana Haberlová, Radim Mazanec, Feifei Tao, Cima Saghira, Lisa Abreu, Steve Courel, Eric Powell, Elena Buglo, Dana M. Bis‐Brewer, Megan F. Baxter, Royston Ong, Lorna Marns, Yi‐Chung Lee, Yunhong Bai, Daniel G. Isom, René Barro-Soria, Ki Wha Chung, Steven S. Scherer, H. Peter Larsson, Nigel G. Laing, Byung‐Ok Choi, Pavel Seeman, Michael E. Shy, Lucio Santoro, Stephan Züchner

    Vydáno 2018
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  14. 14
    GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

    GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study Autor Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, J Waligora, Małgorzata Mueller‐Malesińska, Agnieszka Pollak, Rafał Płoski, Alessandra Murgia, Eva Orzan, Pierangela Castorina, Umberto Ambrosetti, Ewa Nowakowska-Szyrwińska, Jerzy Bal, Wojciech Wiszniewski, Andreas Janecke, Doris Nekahm-Heis, Pavel Seeman, O. Bendová, Margaret A. Kenna, Anna Frangulov, Heidi L. Rehm, Mustafa Tekin, Armağan İncesulu, Hans‐Henrik M. Dahl, Desirée du Sart, Lucy Jenkins, Deirdre Lucas, Maria Bitner‐Glindzicz, Karen B. Avraham, Zippora Brownstein, Ignacio del Castillo, Felipe Moreno, Nikolaus Blin, Markus Pfister, István Sziklai, Tímea Tóth, Philip M. Kelley, Edward Cohn, Lionel Van Maldergem, Pascale Hilbert, Anne‐Françoise Roux, M. Mondain, Lies H. Hoefsloot, Cor W. R. J. Cremers, Tuija Löppönen, Heikki Löppönen, Agnete Parving, Karen Grønskov, Iris Schrijver, Joseph Roberson, Francesca Gualandi, Alessandro Martini, Geneviève Lina‐Granade, Nathalie Pallares‐Ruiz, Céu Correia, Graça Fialho, Kim Cryns, Nele Hilgert, Paul Van de Heyning, Carla Nishimura, Richard J. Smith, Guy Van Camp

    Vydáno 2005
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  15. 15
    Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

    Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Autor Annette Lischka, Katja Eggermann, Christopher J. Record, Maike F. Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Thomas Eggermann, Danique Beijer, Jana Šoukalová, Matilde Laurá, Alexander M. Rossor, Radim Mazanec, Jonas Van Lent, Pedro José Tomaselli, Martin Ungelenk, Karlien Debus, Shawna Feely, Dieter Gläser, Sujatha Jagadeesh, Madelena Martin, Geeta Govindaraj, Pratibha Singhi, Revanth Baineni, Niranjan Biswal, Marisol Ibarra‐Ramírez, M Bonduelle, Burkhard Gess, Juan Romero Sánchez, Renu Suthar, Vrajesh Udani, Atchayaram Nalini, Gopikrishnan Unnikrishnan, Wilson Marques, Sandra Mercier, Vincent Procaccio, Céline Bris, Beena Suresh, Vaishnavi Reddy, Mariola Skorupinska, Nathalie Bonello‐Palot, Fanny Mochel, Georg Dahl, Karthika Sasidharan, Fiji Madona Devassikutty, Sheela Nampoothiri, Maria Juliana R. Doriqui, Wolfgang Müller‐Felber, Katharina Vill, Tobias B. Haack, Andreas Dufke, Michael Abele, Rolf Stucka, Saima Siddiqi, Noor Ullah, Stephanie Spranger, Deborah Chiabrando, Behiye Bolgül, Yeşim Parman, Pavel Seeman, Angelika Lampert, Jörg B. Schulz, John N. Wood, James J. Cox, Michaela Auer‐Grumbach, Vincent Timmerman, Jonathan De Winter, Andreas C. Themistocleous, Michael E. Shy, David Bennett, Jonathan Baets, Christian A. Hübner, Enrico Leipold, Stephan Züchner, Miriam Elbracht, Arman Çakar, Jan Senderek, Thorsten Hornemann, C. Geoffrey Woods, Mary M. Reilly, Ingo Kurth

    Vydáno 2023
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  16. 16
    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD Autor Andrea Cortese, Maike F. Dohrn, Riccardo Currò, Sara Negri, Petra Laššuthová, Chiara Pisciotta, Stefano Tozza, Abdullah Al‐Ajmi, Changyoung Feng, Pedro José Tomaselli, Gorka Fernández‐Eulate, S. Haddad, Matilde Laurà, Alexander M. Rossor, Elisa Vegezzi, Stefano Facchini, James N. Sleigh, Adriana Rebelo, Danique Beijer, Jacquelyn Raposo, Mario Saporta, Barbora Lauerová, Helena F. Pernice, Pascal Achenbach, Ulrike Schöne, Tayir Alon, Marcus Deschauer, Isabell Cordts, Carolin D. Obermaier, Natalie Winter, Peter D. Creigh, Janet E. Sowden, Tyler Rehbein, Stefania Magri, Alessandro Bertini, Paola Saveri, Paolo Ripellino, Jingyu Huang, Aleksandra Nadaj-Pakleza, Alison Ross, James Holt, Kathryn M. Brennan, Rivka Sukenik‐Halevy, Varoona Bizaoui, Yeşim Parman, Esra Battaloğlu, Arman Çakar, Hadil Alrohaif, Simon Hammans, Kishore R. Kumar, Marina Kennerson, Hülya Kayserili, Defne A. Amado, Katrin Hahn, Paola Valentino, Francesca Cavalcanti, Carlo Gaetano, Franco Taroni, Geir J. Braathen, Henry Houlden, Tanya Stojkovic, Stojan Peric, Alessandra Bolino, Stefano C. Previtali, Yi‐Chung Lee, A. Nazlı Başak, Sherifa A. Hamed, Ricardo Rojas‐García, Tanya Stojkovic, Wilson Marques, Teresa Sevilla, Beate Schlotter‐Weigel, Fiore Manganelli, Ruxu Zhang, David N. Herrmann, Steven S. Scherer, Pavel Seeman, Davide Pareyson, Mary M. Reilly, Michael E. Shy, Stephan Züchner

    Vydáno 2025
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  17. 17
    Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

    Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Autor Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane Müller, Rolf Stucka, Christian Beetz, Stéphanie Efthymiou, Filippo M. Santorelli, Ahmed Alfares, Changlian Zhu, Anna Uhrová Mészárosová, Elham Alehabib, Somayeh Bakhtiari, Andreas Janecke, María Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M. Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P.C. van de Warrenburg, R Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilgüvar, Sherifa A. Hamed, Mohammed Abdelhameed, Nourelhoda A. Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair T. Pagnamenta, Nicholas Wood, Frédéric Tran Mau‐Them, Tobias B. Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary Willis, Katheryn Grand, John M. Graham, Richard A. Lewis, Francisca Millan, Özgür Duman, Nihal Olgaç Dündar, Gökhan Uyanık, Lüdger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Català-Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean‐Jacques Médard, Roman Chrast, Michaela Auer‐Grumbach, Fowzan S. Alkuraya, Hanan E. Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C. Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horváth

    Vydáno 2021
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