Výsledky vyhledávání - Haluk Topaloğlu

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  1. 1
    88th ENMC International Workshop: Childhood chronic inflammatory demyelinating polyneuropathy (including revised diagnostic criteria), Naarden, The Netherlands, December 8–10, 2000

    88th ENMC International Workshop: Childhood chronic inflammatory demyelinating polyneuropathy (including revised diagnostic criteria), Naarden, The Netherlands, December 8–10, 2000... Autor Yoram Nevo, Haluk Topaloğlu

    Vydáno 2002
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  2. 2
    Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy

    Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy Autor Gökçe Eser, Haluk Topaloğlu

    Vydáno 2022
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    Revisão
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  3. 3
    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 Autor Hülya Gündeşli, Beril Talim, Petek Korkusuz, Burcu Balci‐Hayta, Sebahattin Çirak, Nurten Akarsu, Haluk Topaloğlu, Pervin Dinçer

    Vydáno 2010
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  4. 4
    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 Autor Bru Cormand, Kristiina Avela, Helena Pihko, Pirkko Santavuori, Beril Talim, Haluk Topaloğlu, Albert de la Chapelle, Anna‐Elina Lehesjoki

    Vydáno 1999
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  5. 5
    Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

    Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy Autor Ercan Demir, Patrizia Sabatelli, Valérie Allamand, Ana Ferreiro, Behzad Moghadaszadeh, Mohamed Makrelouf, Haluk Topaloğlu, Bernard Échenne, Luciano Merlini, Pascale Guicheney

    Vydáno 2002
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  6. 6
    Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

    Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion Autor Onur Emre Onat, Süleyman Gülsüner, Kaya Bilgüvar, A. Nazlı Başak, Haluk Topaloğlu, Meli̇ha Tan, Üner Tan, Murat Günel, Tayfun Özçelık

    Vydáno 2012
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  7. 7
    Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36

    Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36 Autor Behzad Moghadaszadeh, Isabelle Desguerre, Haluk Topaloğlu, Francesco Muntoni, Sylvana Pavek, Caroline A. Sewry, M. Mayer, Michel Fardeau, F.M.S. Tomé, Pascale Guicheney

    Vydáno 1998
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  8. 8
    Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

    Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease Autor Birgit Uhlenberg, Markus Schuelke, Franz Rüschendorf, Nico Ruf, Angela M. Kaindl, Marco Henneke, Hölger Thiele, Gisela Stoltenburg‐Didinger, Fuat Aksu, Haluk Topaloğlu, Peter Nürnberg, Christoph Hübner, Bernhard Weschke, Jutta Gärtner

    Vydáno 2004
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  9. 9
    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 Autor 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

    Vydáno 2001
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  10. 10
    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 Autor 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

    Vydáno 2007
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  11. 11
    Spectrum of<i>HSPG2</i>(Perlecan) mutations in patients with Schwartz-Jampel syndrome

    Spectrum of<i>HSPG2</i>(Perlecan) mutations in patients with Schwartz-Jampel syndrome Autor Morgane Stum, Claire-Sophie Davoine, Savine Vicart, Léna Guillot‐Noël, Haluk Topaloğlu, Francisco Javier Carod-Artal, Hülya Kayserili, Fayçal Hentati, Luciano Merlini, Jon Andoni Urtizberea, EL-Hadi Hammouda, Phuc Canh Quan, Bertrand Fontaine, Sophie Nicole

    Vydáno 2006
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  12. 12
    Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

    Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred Autor Süleyman Gülsüner, Ayşe B. Tekinay, Katja Doerschner, Hüseyin Boyacı, Kaya Bilgüvar, Hilal Ünal, Aslihan Ors, Onur Emre Onat, Ergin Atalar, A. Nazlı Başak, Haluk Topaloğlu, Tülay Kansu, Meli̇ha Tan, Üner Tan, Murat Günel, Tayfun Özçelık

    Vydáno 2011
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  13. 13
    Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

    Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease Autor Hilal Ünal Gülsüner, Süleyman Gülsüner, Fatma Nazlı Mercan, Onur Emre Onat, Tom Walsh, Hashem Shahin, Ming K. Lee, Okan Doğu, Tülay Kansu, Haluk Topaloğlu, Bülent Elibol, Cenk Akbostancı, Mary‐Claire King, Tayfun Özçelık, Ayşe B. Tekinay

    Vydáno 2014
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  14. 14
    Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

    Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 Autor Jianping Zhou, Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet, Mónica Bayés, Flora Nolent, Virginie Garcia, Serenella Servidei, Enrico Bertini, Francesc Castro-Giner, Yavuz Renda, Stéphane Carpentier, Nathalie Andrieu‐Abadie, Marta Gut, Thierry Levade, Haluk Topaloğlu, Judith Melki

    Vydáno 2012
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  15. 15
    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 Autor 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

    Vydáno 2003
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  16. 16
    Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands

    Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands Autor Guglielmina Pepe, Enrico Bertini, Paolo Bonaldo, Kate Bushby, Betti Giusti, Marjolein Visser, Pascale Guicheney, Giovanna Lattanzi, Luciano Merlini, Francesco Muntoni, Ichizo Nishino, Ikuya Nonaka, Rabah Ben Yaou, Patrizia Sabatelli, Caroline A. Sewry, Haluk Topaloğlu, Anneke J. van der Kooi

    Vydáno 2002
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  17. 17
    Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

    Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry Autor Lucas T. Jae, Matthijs Raaben, Moniek Riemersma, Ellen van Beusekom, Vincent A. Blomen, Arno Velds, Ron Kerkhoven, Jan E. Carette, Haluk Topaloğlu, Peter Meinecke, Marja W. Wessels, Dirk J. Lefeber, Sean P. J. Whelan, Hans van Bokhoven, Thijn R. Brummelkamp

    Vydáno 2013
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  18. 18
    MAN1B1 Deficiency: An Unexpected CDG-II

    MAN1B1 Deficiency: An Unexpected CDG-II Autor Daisy Rymen, Romain Péanne, María Beatriz Bistué Millón, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa B. Mills, Peter T. Clayton, Carla Asteggiano, Dulce Quelhas, Ali Cansu, Esmeralda Martins, Marie‐Cécile Nassogne, Miguel Gonçalves-Rocha, Haluk Topaloğlu, Jaak Jaeken, François Foulquier, Gert Matthijs

    Vydáno 2013
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  19. 19
    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... Autor 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

    Vydáno 2008
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  20. 20
    A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

    A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy Autor 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

    Vydáno 2011
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