Risultati della ricerca - Esra Battaloğlu

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  1. 1
    Motor protein mutations cause a new form of hereditary spastic paraplegia

    Motor protein mutations cause a new form of hereditary spastic paraplegia di Andrés Caballero-Oteyza, Esra Battaloğlu, Levent Öcek, Tobias Lindig, Jennifer Reichbauer, Adriana Rebelo, Michael Gonzalez, Yaşar Zorlu, Burçak Özeş, Dagmar Timmann, Benjamin Bender, Günther Woehlke, Stephan Züchner, Lüdger Schöls, Rebecca Schüle

    Pubblicazione 2014
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  2. 2
    <scp>PLA2G6</scp> mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

    <scp>PLA2G6</scp> mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia di Burçak Özeş, N. Karagoz, Rebecca Schüle, Adriana Rebelo, María‐Jesús Sobrido, Florian Harmuth, Matthis Synofzik, Samuel Ignacio Pascual Pascual, M. Colak, Beyza Ciftci-Kavaklioglu, Bülent Kara, Andrés Ordóñez‐Ugalde, Beatriz Quintáns, Michael Gonzalez, Aysun Soysal, Stephan Züchner, Esra Battaloğlu

    Pubblicazione 2017
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  3. 3
    Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

    Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4 di Claudia Stendel, Andreas Roos, Tine Deconinck, Jorge A. Pereira, François Castagner, Axel Niemann, Janbernd Kirschner, Rudolf Korinthenberg, Uwe‐Peter Ketelsen, Esra Battaloğlu, Yeşim Parman, Garth A. Nicholson, Robert Ouvrier, Jürgen Seeger, Peter De Jonghe, Joachim Weis, Alexander Krüttgen, Sabine Rudnik–Schöneborn, Carsten Bergmann, Ueli Suter, Klaus Zerres, Vincent Timmerman, João B. Relvas, Jan Senderek

    Pubblicazione 2007
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  4. 4
    Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

    Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy di Jan Senderek, Carsten Bergmann, Claudia Stendel, Jutta Kirfel, Nathalie Verpoorten, Peter De Jonghe, Vincent Timmerman, Roman Chrast, Mark H. G. Verheijen, Greg Lemke, Esra Battaloğlu, Yeşim Parman, Sevim Erdem‐Özdamar, Ersin Tan, Haluk Topaloğlu, Andreas Hahn, Wolfgang Müller‐Felber, Nicolo’ Rizzuto, Gian Maria Fabrizi, Manfred Stuhrmann, Sabine Rudnik–Schöneborn, Stephan Züchner, J. M. Schröder, Eckhard Buchheim, Volker Straub, Jörg Klepper, Kathrin Huehne, Bernd Rautenstrauß, Reinhard Büttner, Eva Nelis, Klaus Zerres

    Pubblicazione 2003
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  5. 5
    Genetic spectrum of hereditary neuropathies with onset in the first year of life

    Genetic spectrum of hereditary neuropathies with onset in the first year of life di Jonathan Baets, Tine Deconinck, Els De Vriendt, M. Zimoń, Laetitia Yperzeele, Kim Van Hoorenbeeck, Kristien Peeters, Ronen Spiegel, Yeşim Parman, Berten Ceulemans, Patrick Van Bogaert, A Pou-Serradell, G. Bernert, Argyrios Dinopoulos, Michaela Auer‐Grumbach, Satu‐Leena Sallinen, Gian Maria Fabrizi, F. Pauly, Peter Van den Bergh, Birdal Bilir, Esra Battaloğlu, R. E. Madrid, Dagmara Kabzińska, Andrzej Kochański, Haluk Topaloğlu, G. Miller, Albena Jordanova, Vincent Timmerman, Peter De Jonghe

    Pubblicazione 2011
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  6. 6
    MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

    MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability di Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M. Ryan, Zornitza Stark, Maie Walsh, Sarah L. Sawyer, Katrina M. Bell, Alicia Oshlack, Paul J. Lockhart, Mariia Shcherbii, Alejandro Estrada‐Cuzcano, Derek Atkinson, Taila Hartley, Martine Tétreault, Inge Cuppen, W. Ludo van der Pol, Ayşe Candayan, Esra Battaloğlu, Yeşim Parman, Koen L.I. van Gassen, Marie-José H. van den Boogaard, Kym M. Boycott, Liisa Kauppi, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa

    Pubblicazione 2017
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  7. 7
    Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

    Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy di Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burçak Özeş, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim Lawson, Davut Pehli̇van, Yuji Okamoto, Marjorie Withers, Pedro Mancías, Anne Slavotinek, Pamela J. Reitnauer, Meryem Tuba Goksungur, Michael E. Shy, Thomas O. Crawford, M. Kœnig, Jason R. Willer, Brittany Flores, Igor Pediaditrakis, Önder Us, Wojciech Wiszniewski, Yeşim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

    Pubblicazione 2015
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  8. 8
    A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

    A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases di Shinya Yamamoto, Manish Jaiswal, Wu‐Lin Charng, Tomasz Gambin, Ender Karaca, Ghayda Mirzaa, Wojciech Wiszniewski, Héctor Sandoval, Nele A. Haelterman, Bo Xiong, Ke Zhang, Vafa Bayat, Gabriela David, Tongchao Li, Kuchuan Chen, Upasana Gala, Tamar Harel, Davut Pehli̇van, Samantha Penney, Lisenka E.L.M. Vissers, Joep de Ligt, Shalini N. Jhangiani, Ya‐Jing Xie, Stephen H. Tsang, Yeşim Parman, Merve Sivaci, Esra Battaloğlu, Donna M. Muzny, Ying-Wooi Wan, Zhandong Liu, Alexander T. Lin-Moore, Robin D. Clark, Cynthia J. Curry, Nichole Link, Karen L. Schulze, Eric Boerwinkle, William B. Dobyns, Rando Allikmets, Richard A. Gibbs, Rui Chen, James R. Lupski, Michael F. Wangler, Hugo J. Bellen

    Pubblicazione 2014
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  9. 9
    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 di 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

    Pubblicazione 2025
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