检索结果 - Beril Talim

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  1. 1
    Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

    Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy 由 Hülya Gündeşli, Beril Talim, Petek Korkusuz, Burcu Balci‐Hayta, Sebahattin Çirak, Nurten Akarsu, Haluk Topaloğlu, Pervin Dinçer

    出版 2010
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  2. 2
    Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

    Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping 由 Bru Cormand, Kristiina Avela, Helena Pihko, Pirkko Santavuori, Beril Talim, Haluk Topaloğlu, Albert de la Chapelle, Anna‐Elina Lehesjoki

    出版 1999
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  3. 3
    Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1

    Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1 由 Aruto Yoshida, Kazuhiro Kobayashi, Hiroshi Manya, Kiyomi Taniguchi, Hiroki Kano, Mamoru Mizuno, Toshiyuki Inazu, Hideyo Mitsuhashi, Seiichiro Takahashi, Makoto Takeuchi, Ralf Herrmann, Volker Straub, Beril Talim, Thomas Voit, Haluk Topaloğlu, Tatsushi Toda, Tamao Endo

    出版 2001
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  4. 4
    The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

    The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene 由 Klaus Gempel, Haluk Topaloğlu, Beril Talim, Peter Schneiderat, Benedikt Schoser, Volkmar Hans, Beatrix Pálmafy, Gülsev Kale, Ayşegül Tokatlı, Catarina M. Quinzii, Michio Hirano, Ali Naini, Salvatore DiMauro, Holger Prokisch, Hanns Lochmüller, Rita Horváth

    出版 2007
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  5. 5
    Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

    Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit 由 Katrin Hoffmann, Juliane Müller, Sigmar Stricker, André Mégarbané, Anna Rajab, Tom H. Lindner, Monika Cohen, Éliane Chouery, Lynn Adaimy, Ismat Ghanem, Valérie Delague, Eugen Boltshauser, Beril Talim, Rita Horváth, Peter N. Robinson, Hanns Lochmüller, Christoph Hübner, Stefan Mundlos

    出版 2006
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  6. 6
    A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

    A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype 由 Daniel Beltrán Valero de Bernabé, Hans van Bokhoven, Ellen van Beusekom, Willem M.R. van den Akker, Sarina G. Kant, William B. Dobyns, Bru Cormand, Sophie Currier, Ben C.J. Hamel, Beril Talim, Haluk Topaloğlu, Han G. Brunner

    出版 2003
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  7. 7
    SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

    SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy 由 Pankaj B. Agrawal, Christopher R. Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, Marissa G. Viola, Lindsay C. Swanson, Göknur Haliloğlu, Beril Talim, Kyle S. Yau, Richard J.N. Allcock, Nigel G. Laing, Mark A. Perrella, Alan H. Beggs

    出版 2014
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  8. 8
    A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Severity

    A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Seve... 由 C. Jimenez‐Mallebrera, Silvia Torelli, Lucy Feng, Jihee Kim, Caroline Godfrey, Emma Clement, R. Mein, Stephen Abbs, S. Brown, Kevin P. Campbell, Stephan Kröger, Beril Talim, Haluk Topaloğlu, Rosaline C. M. Quinlivan, Helen Roper, Anne Marie Childs, Maria Kinali, Caroline A. Sewry, Francesco Muntoni

    出版 2008
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  9. 9
    Bi-allelic mutations in MYL1 cause a severe congenital myopathy

    Bi-allelic mutations in MYL1 cause a severe congenital myopathy 由 Gianina Ravenscroft, Irina Zaharieva, Carlo Augusto Bortolotti, Matteo Lambrughi, Marcello Pignataro, Marco Borsari, Caroline A. Sewry, Rahul Phadke, Göknur Haliloğlu, Royston Ong, Hayley Goullée, Tamieka Whyte, Adnan Manzur, Beril Talim, Ülkühan Kaya, Daniel P. S. Osborn, Alistair R. R. Forrest, Nigel G. Laing, Francesco Muntoni

    出版 2018
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  10. 10
    A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

    A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy 由 Yuji Hara, Burcu Balci‐Hayta, Takako Yoshida‐Moriguchi, Motoi Kanagawa, Daniel Beltrán-Valero de Bernabé, Hülya Gündeşli, Tobias Willer, Jakob S. Satz, Robert W. Crawford, Steven J. Burden, Stefan Kunz, Michael B. A. Oldstone, Alessio Accardi, Beril Talim, Francesco Muntoni, Haluk Topaloğlu, Pervin Dinçer, Kevin P. Campbell

    出版 2011
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  11. 11
    Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

    Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan 由 C. Godfrey, Emma Clement, R. Mein, Martin Brockington, James E. Smith, Beril Talim, Volker Straub, S. Robb, Rosaline C. M. Quinlivan, L. Feng, C. Jimenez‐Mallebrera, E. Mercuri, A. Manzur, Maria Kinali, Silvia Torelli, S. Brown, C. Sewry, K. Bushby, Haluk Topaloğlu, Kathryn N. North, Stephen Abbs, Francesco Muntoni

    出版 2007
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  12. 12
    Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

    Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency 由 John P. Kemp, Paul Smith, Angela Pyle, Vivienne C. M. Neeve, Helen Tuppen, Ulrike Schara, Beril Talim, Haluk Topaloğlu, Elke Holinski‐Feder, Angela Abicht, Birgit Czermin, Hanns Lochmüller, Robert McFarland, Patrick F. Chinnery, Zofia M. Chrzanowska‐Lightowlers, Robert N. Lightowlers, Robert W. Taylor, Rita Horváth

    出版 2010
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  13. 13
    A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

    A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis 由 Satomi Mitsuhashi, Aya Ohkuma, Beril Talim, Minako Karahashi, Tomoko Koumura, Chieko Aoyama, Mana Kurihara, Rosaline C. M. Quinlivan, Caroline A. Sewry, Hiroaki Mitsuhashi, Kanako Goto, Burcu Tahire Köksal, Gülsev Kale, Kazutaka Ikeda, Ryo Taguchi, S. Noguchi, Yukiko Hayashi, Ikuya Nonaka, Roger B. Sher, Hiroyuki Sugimoto, Yasuhito Nakagawa, Gregory A. Cox, Haluk Topaloğlu, Ichizo Nishino

    出版 2011
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  14. 14
    Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

    Recessive TTN truncating mutations define novel forms of core myopathy with heart disease 由 Claire Chauveau, Carsten G. Bönnemann, Cédric Julien, Ay Lin Kho, Harold G. Marks, Beril Talim, Philippe Maury, M. C. Arne-Bes, Emmanuelle Uro‐Coste, Alexander Alexandrovich, Anna Vihola, Sebastian Schäfer, Beat A. Kaufmann, Līvija Medne, Norbert Hübner, A. Reghan Foley, Mariarita Santi, Bjarne Udd, Haluk Topaloğlu, Steven A. Moore, Michael Gotthardt, Mark E. Samuels, Mathias Gautel, Ana Ferreiro

    出版 2013
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  15. 15
    Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

    Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth 由 Emily J. Todd, Kyle S. Yau, Royston Ong, Jennie Slee, George McGillivray, Christopher Barnett, Göknur Haliloğlu, Beril Talim, Zühal Akçören, Ariana Kariminejad, Anita Cairns, Nigel F. Clarke, Mary‐Louise Freckmann, Norma B. Romero, Denise Williams, Caroline A. Sewry, Alison Colley, Monique M. Ryan, Cathy Kiraly‐Borri, Padma Sivadorai, Richard J. N. Allcock, David Beeson, Susan Maxwell, Mark R. Davis, Nigel G. Laing, Gianina Ravenscroft

    出版 2015
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  16. 16
    Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

    Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies 由 Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L. Alston, Vivienne C. M. Neeve, Andrew Best, John W. Yarham, Janbernd Kirschner, Ulrike Schara, Beril Talim, Haluk Topaloğlu, Ivo Barić, Elke Holinski‐Feder, Angela Abicht, Birgit Czermin, Stephanie Kleinle, Andrew A. M. Morris, Grace Vassallo, Gráinne S. Gorman, Venkateswaran Ramesh, Douglass M. Turnbull, Mauro Santibanez‐Koref, Robert McFarland, Rita Horváth, Patrick F. Chinnery

    出版 2014
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  17. 17
    Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

    Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 由 Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero, Signe Mosegaard, Veronika Boczonadi, Lavinija Mataković, Alice Veauville‐Merllié, Caterina Terrile, Thomas Schwarzmayr, Tobias B. Haack, Mari Auranen, Piero Leone, Michele Galluccio, Apolline Imbard, Purificacion Gutierrez-Ríos, Johan Palmfeldt, Elisabeth Graf, Christine Vianey‐Saban, Marcus Oppenheim, Manuel Schiff, Samia Pichard, Odile Rigal, Angela Pyle, Patrick F. Chinnery, Vassiliki Konstantopoulou, Dorothea Möslinger, René G. Feichtinger, Beril Talim, Haluk Topaloğlu, Turgay Coşkun, Şafak Güçer, Annalisa Botta, Elena Pegoraro, Adriana Malena, Lodovica Vergani, Daniela Mazzà, Marcella Zollino, Daniele Ghezzi, Cécile Acquaviva, Tiina Tyni, Avihu Boneh, Thomas Meitinger, Tim M. Strom, Niels Gregersen, Johannes A. Mayr, Rita Horváth, Maria Barile, Holger Prokisch

    出版 2016
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  18. 18
    Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

    Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization 由 Gina O’Grady, Heather Best, Tamar E. Sztal, Vanessa Schartner, Myriam Sanjuan-Vazquez, Sandra Donkervoort, Osório Lopes Abath Neto, R. Bryan Sutton, Biljana Ilkovski, Norma B. Romero, Tanya Stojkovic, Jahannaz Dastgir, Leigh B. Waddell, Anne Boland, Ying Hu, Caitlin Williams, Avnika A. Ruparelia, Thierry Maisonobe, Anthony Peduto, Stephen W. Reddel, Monkol Lek, Taru Tukiainen, Beryl B. Cummings, Himanshu Joshi, Juliette Nectoux, Susan Brammah, Jean‐François Deleuze, Viola Oorschot Ing, Georg Ramm, Didem Ardıçlı, Kristen L. Nowak, Beril Talim, Haluk Topaloğlu, Nigel G. Laing, Kathryn N. North, Daniel G. MacArthur, Sylvie Friant, Nigel F. Clarke, Robert J. Bryson‐Richardson, Carsten G. Bönnemann, Jocelyn Laporte, Sandra T. Cooper

    出版 2016
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  19. 19
    Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

    Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy 由 Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari, Emily J. Todd, Pauliina Vornanen, Kyle S. Yau, Yukiko Hayashi, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Hirotomo Saitsu, Hitoshi Osaka, Sumimasa Yamashita, Takashi Ohya, Yuko Sakamoto, Eriko Koshimizu, Shintaro Imamura, Michiaki Yamashita, Kazuhiro Ogata, Masaaki Shiina, Robert J. Bryson‐Richardson, Raquel Vaz, Ö. Ceyhan, Catherine A. Brownstein, Lindsay C. Swanson, Sophie Monnot, Norma B. Romero, Helge Amthor, Nina Kresoje, Padma Sivadorai, Cathy Kiraly‐Borri, Göknur Haliloğlu, Beril Talim, Diclehan Orhan, Gülsev Kale, Adrian Charles, Victoria A. Fabian, Mark R. Davis, Martin Lammens, Caroline A. Sewry, Adnan Manzur, Francesco Muntoni, Nigel F. Clarke, Kathryn N. North, Enrico Bertini, Yoram Nevo, E Willichowski, Inger Elisabeth Silberg, Haluk Topaloğlu, Alan H. Beggs, Richard J. N. Allcock, Ichizo Nishino, Carina Wallgren‐Pettersson, Naomichi Matsumoto, Nigel G. Laing

    出版 2013
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