620 results for Nemaline+myopathy

620 results for Nemaline+myopathy

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      ArticlesPeer ReviewedFull Text

      Author / Creator:Yesilbas, Osman ; Sevketoglu, Esra ; Kihtir, Hasan Serdar ; Ersoy, Melike ; Petmezci, Mey Talip ; Akkus, Canan Hasbal ; Sahin, Önder ; Ceylaner, Serdar
      Publisher:AVES
      Journal title:Turk Pediatri Arsivi, 2019-03, Vol.54 (1), p.3
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      Author / Creator:Yuen, Michaela ; Sandaradura, Sarah A ; Dowling, James J ; Kostyukova, Alla S ; Moroz, Natalia ; Quinlan, Kate G ; Lehtokari, Vilma-Lotta ; Ravenscroft, Gianina ; Todd, Emily J ; Ceyhan-Birsoy, Ozge ; Gokhin, David S ; Maluenda, Jérome ; Lek, Monkol ; Nolent, Flora ; Pappas, Christopher T ; Novak, Stefanie M ; D'Amico, Adele ; Malfatti, Edoardo ; Thomas, Brett P ; Gabriel, Stacey B ; Gupta, Namrata ; Daly, Mark J ; Ilkovski, Biljana ; Houweling, Peter J ; Davidson, Ann E ; Swanson, Lindsay C ; Brownstein, Catherine A ; Gupta, Vandana A ; Medne, Livija ; Shannon, Patrick ; Martin, Nicole ; Bick, David P ; Flisberg, Anders ; Holmberg, Eva ; Van den Bergh, Peter ; Lapunzina, Pablo ; Waddell, Leigh B ; Sloboda, Darcée D ; Bertini, Enrico ; Chitayat, David ; Telfer, William R ; Laquerrière, Annie ; Gregorio, Carol C ; Ottenheijm, Coen A C ; Bönnemann, Carsten G ; Pelin, Katarina ; Beggs, Alan H ; Hayashi, Yukiko K ; Romero, Norma B ; Laing, Nigel G ; Nishino, Ichizo ; Wallgren-Pettersson, Carina ; Melki, Judith ; Fowler, Velia M ; MacArthur, Daniel G ; North, Kathryn N ; Clarke, Nigel F
      Publisher:United States: American Society for Clinical Investigation
      Journal title:The Journal of clinical investigation, 2014-11, Vol.124 (11), p.4693-4708
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      Author / Creator:Nicolau, Stefan ; Milone, Margherita
      Publisher:New York: Springer US
      Journal title:Current neurology and neuroscience reports, 2023-11, Vol.23 (11), p.777-784
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      Author / Creator:Garg, Ankit ; O'Rourke, Jason ; Long, Chengzu ; Doering, Jonathan ; Ravenscroft, Gianina ; Bezprozvannaya, Svetlana ; Nelson, Benjamin R ; Beetz, Nadine ; Li, Lin ; Chen, She ; Laing, Nigel G ; Grange, Robert W ; Bassel-Duby, Rhonda ; Olson, Eric N
      Publisher:United States: American Society for Clinical Investigation
      Journal title:The Journal of clinical investigation, 2014-08, Vol.124 (8), p.3529-3539
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      Author / Creator:Tanboon, Jantima ; Uruha, Akinori ; Arahata, Yukie ; Dittmayer, Carsten ; Schweizer, Leonille ; Goebel, Hans‐Hilmar ; Nishino, Ichizo ; Stenzel, Werner
      Publisher:Switzerland: John Wiley & Sons, Inc
      Journal title:Brain pathology (Zurich, Switzerland), 2021-05, Vol.31 (3), p.e12962-n/a
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      Author / Creator:Bevilacqua, Jorge A ; Malfatti, Edoardo ; Labasse, Clémence ; Brochier, Guy ; Madelaine, Angeline ; Lacène, Emmanuelle ; Doray, Bérénice ; Laforêt, Pascal ; Eymard, Bruno ; Rendu, John ; Romero, Norma B
      Publisher:England: Oxford University Press
      Journal title:Journal of neuropathology and experimental neurology, 2022-04, Vol.81 (4), p.304-307
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      Author / Creator:Gurgel-Giannetti, Juliana ; Souza, Lucas Santos ; Yamamoto, Guilherme L ; Belisario, Marina ; Lazar, Monize ; Campos, Wilson ; Pavanello, Rita de Cassia M ; Zatz, Mayana ; Reed, Umbertina ; Zanoteli, Edmar ; Oliveira, Acary Bulle ; Lehtokari, Vilma-Lotta ; Casella, Erasmo B ; Machado-Costa, Marcela C ; Wallgren-Pettersson, Carina ; Laing, Nigel G ; Nigro, Vincenzo ; Vainzof, Mariz
      Publisher:Switzerland: MDPI AG
      Journal title:International journal of molecular sciences, 2022-10, Vol.23 (19), p.11995
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      Author / Creator:Schnitzler, Lukas J ; Schreckenbach, Tobias ; Nadaj-Pakleza, Aleksandra ; Stenzel, Werner ; Rushing, Elisabeth J ; Van Damme, Philip ; Ferbert, Andreas ; Petri, Susanne ; Hartmann, Christian ; Bornemann, Antje ; Meisel, Andreas ; Petersen, Jens A ; Tousseyn, Thomas ; Thal, Dietmar R ; Reimann, Jens ; De Jonghe, Peter ; Martin, Jean-Jacques ; Van den Bergh, Peter Y ; Schulz, Jörg B ; Weis, Joachim ; Claeys, Kristl G
      Publisher:England: BioMed Central
      Journal title:Orphanet journal of rare diseases, 2017-05, Vol.12 (1), p.86-86, Article 86
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      Author / Creator:Nóbrega, Paulo Ribeiro ; de Brito de Souza, Jorge Luiz ; Maurício, Rebeca Bessa ; de Paiva, Anderson Rodrigues Brandão ; Dias, Daniel Aguiar ; Camelo, Clara Gontijo ; Zanotelli, Edmar ; Schlesinger, David ; Braga-Neto, Pedro ; Moreno, Cristiane Araujo Martins
      Publisher:Cham: Springer International Publishing
      Journal title:Neurological sciences, 2024-03, Vol.45 (3), p.1225-1231
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      Author / Creator:Wang, Guangyu ; Zhao, Dandan ; Yan, Chuanzhu ; Lin, Pengfei
      Publisher:England: Nature Publishing Group
      Journal title:Journal of human genetics, 2023-02, Vol.68 (2), p.97-101
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      Author / Creator:Lehtokari, Vilma-Lotta ; Similä, Minna ; Tammepuu, Marianne ; Wallgren-Pettersson, Carina ; Strang-Karlsson, Sonja ; Hiekkala, Sinikka
      Publisher:London: BioMed Central Ltd
      Journal title:Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-374, Article 374
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      Author / Creator:Mubaraki, Adnan A.
      Publisher:Basel, Switzerland: S. Karger AG
      Journal title:Case reports in neurology, 2021-07, Vol.13 (2), p.499-503
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      Author / Creator:Ross, Jacob A. ; Levy, Yotam ; Ripolone, Michela ; Kolb, Justin S. ; Turmaine, Mark ; Holt, Mark ; Lindqvist, Johan ; Claeys, Kristl G. ; Weis, Joachim ; Monforte, Mauro ; Tasca, Giorgio ; Moggio, Maurizio ; Figeac, Nicolas ; Zammit, Peter S. ; Jungbluth, Heinz ; Fiorillo, Chiara ; Vissing, John ; Witting, Nanna ; Granzier, Henk ; Zanoteli, Edmar ; Hardeman, Edna C. ; Wallgren-Pettersson, Carina ; Ochala, Julien
      Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
      Journal title:Acta neuropathologica, 2019-09, Vol.138 (3), p.477-495
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      Author / Creator:Hamanaka, Kohei ; Miyatake, Satoko ; Koshimizu, Eriko ; Tsurusaki, Yoshinori ; Mitsuhashi, Satomi ; Iwama, Kazuhiro ; Alkanaq, Ahmed N. ; Fujita, Atsushi ; Imagawa, Eri ; Uchiyama, Yuri ; Tawara, Nozomu ; Ando, Yukio ; Misumi, Yohei ; Okubo, Mariko ; Nakashima, Mitsuko ; Mizuguchi, Takeshi ; Takata, Atsushi ; Miyake, Noriko ; Saitsu, Hirotomo ; Iida, Aritoshi ; Nishino, Ichizo ; Matsumoto, Naomichi
      Publisher:New York: Elsevier Inc
      Journal title:Genetics in medicine, 2019-07, Vol.21 (7), p.1629-1638
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      Author / Creator:Lindqvist, Johan ; Ma, Weikang ; Li, Frank ; Hernandez, Yaeren ; Kolb, Justin ; Kiss, Balazs ; Tonino, Paola ; van der Pijl, Robbert ; Karimi, Esmat ; Gong, Henry ; Strom, Josh ; Hourani, Zaynab ; Smith, John E. ; Ottenheijm, Coen ; Irving, Thomas ; Granzier, Henk
      Publisher:London: Nature Publishing Group UK
      Journal title:Nature communications, 2020-06, Vol.11 (1), p.2699-2699, Article 2699
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      Author / Creator:Lee, Han-Chih Hencher ; Wong, Shun ; Leung, Frank Ying-Kit ; Ho, Luen-Cheung ; Chan, Siu-Ki Timothy ; Fung, Tsui-Hang Sharon ; Kwan, Kwok-Fan ; Yau, Kin-Cheong Eric ; Li, Ka-Wah ; Yau, Wai-Nang ; Leung, Hoi-Ki Cynthia ; Chen, Sammy Pak-Lam ; Mak, Chloe Miu
      Publisher:England: by American Association of Neuropathologists, Inc
      Journal title:Journal of neuropathology and experimental neurology, 2019-09, Vol.78 (9), p.854-864
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      Author / Creator:Géraud, Justine ; Dieterich, Klaus ; Rendu, John ; Uro Coste, Emmanuelle ; Dobrzynski, Murielle ; Marcorelle, Pascale ; Ioos, Christine ; Romero, Norma Beatriz ; Baudou, Eloise ; Brocard, Julie ; Coville, Anne-Cécile ; Fauré, Julien ; Koenig, Michel ; Juntas Morales, Raul ; Lacène, Emmanuelle ; Madelaine, Angéline ; Marty, Isabelle ; Pegeot, Henri ; Theze, Corinne ; Siegfried, Aurore ; Cossee, Mireille ; Cances, Claude
      Publisher:England: BMJ Publishing Group LTD
      Journal title:Journal of medical genetics, 2021-09, Vol.58 (9), p.602-608
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      Author / Creator:Lindqvist, Johan ; Lee, Eun-Jeong ; Karimi, Esmat ; Kolb, Justin ; Granzier, Henk
      Publisher:United States: Public Library of Science
      Journal title:PloS one, 2019-11, Vol.14 (11), p.e0224467-e0224467
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      Author / Creator:Lindqvist, Johan ; Kolb, Justin ; de Winter, Josine ; Tonino, Paola ; Hourani, Zaynab ; Labeit, Siegfried ; Ottenheijm, Coen ; Granzier, Henk
      Publisher:Basel: MDPI AG
      Journal title:International journal of molecular sciences, 2022-08, Vol.23 (15), p.8113
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      Author / Creator:Haghighi, Alireza ; Alvandi, Zahra ; Nilipour, Yalda ; Haghighi, Amirreza ; Kornreich, Ruth ; Nafissi, Shahriar ; Desnick, Robert J
      Publisher:England: Nature Publishing Group
      Journal title:European journal of human genetics : EJHG, 2023-11, Vol.31 (11), p.1237-1250
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