Search Results - Yeşim Parman

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  1. 1
    Eculizumab as a Rescue Therapy in Prolonged Myasthenic Crisis in the Intensive Care Unit: A Case Series

    Eculizumab as a Rescue Therapy in Prolonged Myasthenic Crisis in the Intensive Care Unit: A Case Series by Hacer Durmuş, Arman Çakar, Yeşim Parman

    Published 2025
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  2. 2
    Assessment of patients with hereditary transthyretin amyloidosis – understanding the impact of management and disease progression

    Assessment of patients with hereditary transthyretin amyloidosis – understanding the impact of management and disease progression by Isabel Conceição, Teresa Coelho, Claudio Rapezzi, Yeşim Parman, Laura Obici, Lucía Galán, Antoine Rousseau

    Published 2019
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  3. 3
    Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe

    Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe by Yeşim Parman, David Adams, Laura Obici, Lucía Galán, Velina Guergueltcheva, Ole B. Suhr, Teresa Coelho

    Published 2016
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  4. 4
    ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population

    ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population by Suna Lahut, Özgür Ömür, Özgün Uyan, Zeynep Sena Ağım, Aslıhan Özoğuz, Yeşim Parman, Feza Deymeer, Piraye Oflazer, Filiz Koç, Hilmi Özçelik, Georg Auburger, A. Nazlı Başak

    Published 2012
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  5. 5
    CD4+ T Cells of Myasthenia Gravis Patients Are Characterized by Increased IL-21, IL-4, and IL-17A Productions and Higher Presence of PD-1 and ICOS

    CD4+ T Cells of Myasthenia Gravis Patients Are Characterized by Increased IL-21, IL-4, and IL-17A Productions and Higher Presence of PD-1 and ICOS by Merve Çebi, Hacer Durmuş, Fikret Aysal, Behzat Özkan, Gizem Engin Gül, Arman Çakar, Mehmet Hocaoǧlu, Metin Mercan, Sibel P. Yentür, Melih Tütüncü, Vıldan Yayla, Onur Akan, Öner Doğan, Yeşim Parman, Güher Saruhan‐Direskeneli

    Published 2020
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  6. 6
    NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

    NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy by Ahmet Okay Çağlayan, Sinan Çomu, Jacob F. Baranoski, Yeşim Parman, Hande Kaymakçalan, Gozde Akgumus, Caner Çağlar, Duygu Dölen, Emine Zeynep Erson-Omay, Akdes Serin Harmancı, Ketu Mishra-Gorur, Hudson H. Freeze, Katsuhito Yasuno, Kaya Bilgüvar, Murat Günel

    Published 2014
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  7. 7
    Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen

    Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen by Teresa Coelho, Márcia Waddington‐Cruz, Chi‐Chao Chao, Yeşim Parman, Jonas Wixner, Markus Weiler, Fábio Barroso, Noel R. Dasgupta, Shiangtung W. Jung, Eugene Schneider, Nicholas J. Viney, P. James B. Dyck, Yukio Ando, Julian D. Gillmore, Sami Khella, Morie A. Gertz, Laura Obici, John L. Berk

    Published 2022
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  8. 8
    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 by 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

    Published 2007
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  9. 9
    Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

    Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A by Stephan Züchner, Irina Mersiyanova, M. Muglia, Nisrine Bissar‐Tadmouri, Julie M. Rochelle, Е. Л. Дадали, Mario Zappia, Eva Nelis, A. Patitucci, Jan Senderek, Yeşim Parman, Oleg V. Evgrafov, Peter De Jonghe, Yuji Takahashi, Shoij Tsuji, Margaret A. Pericak‐Vance, Aldo Quattrone, Esra Battologlu, A. V. Polyakov, Vincent Timmerman, J. M. Schröder, Jeffery M. Vance

    Published 2004
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  10. 10
    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 by 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

    Published 2003
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  11. 11
    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 by 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

    Published 2011
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  12. 12
    MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

    MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability by 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

    Published 2017
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  13. 13
    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 by 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

    Published 2015
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  14. 14
    The distinct genetic pattern of ALS in Turkey and novel mutations

    The distinct genetic pattern of ALS in Turkey and novel mutations by Aslıhan Özoğuz, Özgün Uyan, Güneş Birdal, Ceren Iskender, Ece Kartal, Suna Lahut, Özgür Ömür, Zeynep Sena Ağım, Aslı Gündoğdu Eken, Nesli Ece Şen, Pınar Kavak, Ceren Saygı, Peter C. Sapp, Pamela Keagle, Yeşim Parman, Ersin Tan, Filiz Koç, Feza Deymeer, Piraye Oflazer, Haşmet Hanağası, Hakan Gürvıt, Başar Bılgıç, Hacer Durmuş, Mustafa Ertaş, Dilcan Kotan, Mehmet Ali Akalın, Halil Güllüoğlu, Mehmet Zarifoğlu, Fikret Aysal, Nilgün Döşoğlu, Kaya Bilgüvar, Murat Günel, Özlem Keskin, Tahsin Akgün, Hilmi Özçelik, John E. Landers, Robert H. Brown, A. Nazlı Başak

    Published 2015
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  15. 15
    Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

    Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis by David Adams, Alejandra González‐Duarte, William O’Riordan, Chih‐Chao Yang, Mitsuharu Ueda, Arnt V. Kristen, Ivailo Tournev, Hartmut Schmidt, Teresa Coelho, John L. Berk, Kon-Ping Lin, Giuseppe Vita, Shahram Attarian, Violaine Planté‐Bordeneuve, Michelle M. Mezei, Josep M. Campistol, Juan Buades, Thomas H. Brannagan, Byoung J. Kim, Jeeyoung Oh, Yeşim Parman, Yoshiki Sekijima, Philip N. Hawkins, Scott D. Solomon, Michael Polydefkis, P. James B. Dyck, Pritesh J. Gandhi, Sunita Goyal, Jihong Chen, Andrew Strahs, Saraswathy V. Nochur, Marianne T. Sweetser, Pushkal Garg, Akshay Vaishnaw, Jared Gollob, Ole B. Suhr

    Published 2018
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  16. 16
    Characteristics of Patients with Late- vs. Early-Onset Val30Met Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

    Characteristics of Patients with Late- vs. Early-Onset Val30Met Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS) by Márcia Waddington‐Cruz, Jonas Wixner, Leslie Amass, Jan Kiszko, Doug Chapman, Yukio Ando, Fábio Barroso, Marcelo Rugiero, Johan Van Cleemput, Ivaylo Tarnev, Theodoros Kyriakides, Arnt V. Kristen, Hartmut Schmidt, Felix Darstein, Burkhard Gess, Josep Maria Campistol Plana, Juan González Moreno, José González‐Costello, Pablo García Pavía, Roberto Fernández‐Torrón, Francisco Muñoz Beamud, Violaine Planté‐Bordeneuve, David B. Adams, Olivier Lairez, Claudio Rapezzi, Giampaolo Merlini, Marco Luigetti, Yoshiki Sekijima, Taro Yamashita, Sonoko Misawa, Soon-Chai Low, Hans L. A. Nienhuis, Teresa Coelho, Isabel Conceição, Rayomand Press, Yeşim Parman, Mathew S. Maurer, Stephen S. Gottlieb, Annabel Wang, Brian Drachman, Angela Dispenzieri, Saša Živković, Daniel J. Lenihan

    Published 2021
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  17. 17
    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 by 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

    Published 2014
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  18. 18
    Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

    Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease by Andreas Traschütz, Andrea Cortese, Selina Reich, Natalia Dominik, Jennifer Faber, Heike Jacobi, Annette M. Hartmann, Dan Rujescu, Solveig Montaut, Andoni Echaniz‐Laguna, Sevda Erer, Valerie Schütz, Alexander A. Tarnutzer, Marc Sturm, Tobias B. Haack, Nadège Vaucamps-Diedhiou, Hélène Puccio, Lüdger Schöls, Thomas Klockgether, Bart P.C. van de Warrenburg, Martin Paucar, Dagmar Timmann, R.-D Hilgers, José Gazulla, Michael Strupp, Germán Morís, Alessandro Filla, Henry Houlden, Mathieu Anheim, Jon Infante, A. Nazli Basak, Matthis Synofzik, Banu Özen Barut, Başar Bılgıç, Cavit Boz, Cécile Cauquil, Natalie Deininger, Claudia Dufke, Bülent Elibol, Furkan Erbas, Sibel Ertan, Fatma Genç, Ina Giegling, Yeşim Parman, Salvatore Rossi, Celal Salcin, Melíha Tan, Hilal Taştekin, Christine Tranchant, Günes Uygun, Özge Yağcıoğlu Yassa

    Published 2021
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  19. 19
    Sex Differences in Wild-Type Transthyretin Amyloidosis: An Analysis from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

    Sex Differences in Wild-Type Transthyretin Amyloidosis: An Analysis from the Transthyretin Amyloidosis Outcomes Survey (THAOS) by Courtney Campbell, Samantha LoRusso, Angela Dispenzieri, Arnt V. Kristen, Mathew S. Maurer, Claudio Rapezzi, Olivier Lairez, Brian Drachman, Pablo García‐Pavía, Martha Grogan, Doug Chapman, Leslie Amass, Michele Emdin, Mazen Hanna, Olga Azevedo, Calogero Lino Cirami, Daniel Jacoby, José González‐Costello, David Slosky, H. Moelgaard, Scott L. Hummel, José Nativi-Nicolau, Srinivas Murali, Nowell M. Fine, Eun‐Seok Jeon, Sanjiv J. Shah, Ronald Witteles, Daniel J. Lenihan, Márcia Waddington‐Cruz, Yoshiki Sekijima, José Tallaj, Christopher R. Mueller, Johan Van Cleemput, Violaine Planté‐Bordeneuve, Hans L. A. Nienhuis, Dianna Quan, D. Eric Steidley, Hartmut Schmidt, Jonas Wixner, Michael Polydefkis, Jeffrey Ralph, Hector Ventura, Saša Živković, Burkhard Gess, Roberto Fernández‐Torrón, Stephen S. Gottlieb, William Cotts, James M. Tauras, Nitasha Sarswat, Juan González Moreno, Yeşim Parman, Jin Luo

    Published 2022
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  20. 20
    Sex-Related Risk of Cardiac Involvement in Hereditary Transthyretin Amyloidosis

    Sex-Related Risk of Cardiac Involvement in Hereditary Transthyretin Amyloidosis by Angelo Giuseppe Caponetti, Claudio Rapezzi, Christian Gagliardi, Agnese Milandri, Angela Dispenzieri, Arnt V. Kristen, Jonas Wixner, Mathew S. Maurer, Pablo García‐Pavía, Ivailo Tournev, Violaine Planté‐Bordeneuve, Douglass Chapman, Leslie Amass, Johan Van Cleemput, Márcia Waddington‐Cruz, Hartmut Schmidt, Klaus-Ulrich Dillmann, Henning Mølgaard, Juan González Moreno, José González‐Costello, Francisco Muñoz Beamud, Lucía Galán Dávila, David Adams, Jocelyn Inamo, Olivier Lairez, Giuseppe Vita, Giampaolo Merlini, Calogero Lino Cirami, Marco Luigetti, Michele Emdin, Yoshiki Sekijima, Eun‐Seok Jeon, Jeeyoung Oh, Maria Alejandra Gonzalez Duarte Briseno, Hans L. A. Nienhuis, Teresa Coelho, Isabel Conceição, Olga Azevedo, Sorina Bădeliţă, Rayomand Press, Yeşim Parman, Sanjiv J. Shah, Dianna Quan, Tessa Marburger, Michael Polydefkis, Ronald Witteles, Stephen S. Gottlieb, Nitasha Sarswat, Brian Drachman, D. Eric Steidley, Scott L. Hummel, David Slosky, Daniel Jacoby, José Nativi-Nicolau, James M. Tauras, Saša Živković, José Tallaj, Daniel J. Lenihan

    Published 2021
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