نتائج البحث - Beate Schlotter‐Weigel

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  1. 1
    Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial

    Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial حسب Maggie C. Walter, Peter Reilich, Simone Thiele, Joachim Schessl, Herbert Schreiber, Karlheinz Reiners, Wolfram Kreß, C. Müller‐Reible, Matthias Vorgerd, Péter Urbán, Bertold Schrank, Marcus Deschauer, Beate Schlotter‐Weigel, Ralf Kohnen, Hanns Lochmüller

    منشور في 2013
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  2. 2
    A rat model of Charcot–Marie–Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients

    A rat model of Charcot–Marie–Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients حسب Robert Fledrich, Beate Schlotter‐Weigel, Tuuli J. Schnizer, Sven P. Wichert, Ruth M. Stassart, Gerd Meyer zu Hörste, Axel Klink, Bernhard G. Weiss, Uwe Haag, Maggie C. Walter, Bernd Rautenstrauß, Walter Paulus, Moritz J. Rossner, Michael W. Sereda

    منشور في 2011
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  3. 3
    Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

    Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I حسب Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens, Jonathan Baets, Anke Penno, Leonardo Almeida‐Souza, Kim van Hoof, An Jacobs, Els De Vriendt, Beate Schlotter‐Weigel, Wolfgang N. Löscher, Petr Vondráček, Pavel Seeman, Peter De Jonghe, Patrick Van Dijck, Albena Jordanova, Thorsten Hornemann, Vincent Timmerman

    منشور في 2010
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  4. 4
    Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

    Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome حسب Barbara Rohkamm, Mary M. Reilly, Hanns Lochmüller, Beate Schlotter‐Weigel, Nina Barišić, Lüdger Schöls, Garth A. Nicholson, Davide Pareyson, Matilde Laurá, Andreas Janecke, Gábriel Miltenberger-Miltényi, Elisabeth John, Carina Fischer, Franz Grill, William Wakeling, Mary Dabney Davis, Thomas R. Pieber, Michaela Auer‐Grumbach

    منشور في 2007
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  5. 5
    Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

    Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness حسب Zoltán Lukács, Paulina Nieves Cobos, Stephan Wenninger, Tracey Willis, Michela Guglieri, Marc Roberts, Rosaline C. M. Quinlivan, David Hilton‐Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter‐Weigel, Maggie C. Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller‐Felber, Benedikt Schoser

    منشور في 2016
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  6. 6
    Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

    Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity حسب Qiuping Zhang, Cornelia Bethmann, Nathalie F. Worth, John Dwyfor Davies, Christina Wasner, Anja Feuer, Cassandra D. Ragnauth, Qijian Yi, Jason A. Mellad, Derek Warren, Matthew Wheeler, Juliet A. Ellis, Jeremy N. Skepper, Matthias Vorgerd, Beate Schlotter‐Weigel, Peter L. Weissberg, Roland G. Roberts, Manfred Wehnert, Catherine M. Shanahan

    منشور في 2007
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  7. 7
    Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

    Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C حسب Michaela Auer‐Grumbach, Andrea Olschewski, Lea Papić, Hannie Kremer, Meriel McEntagart, Sabine Uhrig, Carina Fischer, Eleonore Fröhlich, Zoltán Bálint, Bi Tang, Heimo Strohmaier, Hanns Lochmüller, Beate Schlotter‐Weigel, Jan Senderek, Angelika Krebs, Katherine Dick, Richard Petty, Cheryl Longman, Neil E. Anderson, George W. Padberg, Helenius J. Schelhaas, Conny M.A. van Ravenswaaij‐Arts, Thomas R. Pieber, Andrew H. Crosby, Christian Guelly

    منشور في 2009
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  8. 8
    Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness

    Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness حسب Jingxia Wu, Sicong Ma, Roger Sandhoff, Yanan Ming, Agnes Hotz‐Wagenblatt, Vincent Timmerman, Nathalie Bonello‐Palot, Beate Schlotter‐Weigel, Michaela Auer‐Grumbach, Pavel Seeman, Wolfgang N. Löscher, Markus Reindl, Florian Weiß, Eric Y. Mah, Nina Weisshaar, Alaa Madi, Kerstin Möhr, Tilo Schlimbach, Rubí M.-H. Velasco Cárdenas, Jonas Koeppel, Florian Grünschläger, Lisann Müller, Maren Baumeister, Britta Brügger, Michael Schmitt, Guido Wabnitz, Yvonne Samstag, Guoliang Cui

    منشور في 2019
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  9. 9
    Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

    Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies حسب Maike F. Dohrn, Nicola Glöckle, Lejla Mulahasanovic, Corina Heller, Julia Mohr, Christine Bauer, Erik Riesch, Andrea C. Becker, Florian Battke, Konstanze Hörtnagel, Thorsten Hornemann, Saranya Suriyanarayanan, Markus Blankenburg, Jörg B. Schulz, Kristl G. Claeys, Burkhard Gess, István Katona, A. Ferbert, Debora Vittore, Alexander Grimm, Stefan Wolking, Lüdger Schöls, Holger Lerche, Georg Christoph Korenke, Dirk Fischer, Bertold Schrank, Urania Kotzaeridou, Gerhard Kurlemann, Bianca Dräger, Anja Schirmacher, Peter Young, Beate Schlotter‐Weigel, Saskia Biskup

    منشور في 2017
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  10. 10
    Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

    Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies حسب Michaela Auer‐Grumbach, Stefan Toegel, Maria Schabhüttl, Daniela Weinmann, Catharina Chiari, David Bennett, Christian Beetz, Dennis Klein, Peter M. Andersen, Ilka Böhme, Regina Fink‐Puches, Michael Gonzalez, Matthew Harms, William W. Motley, Mary M. Reilly, Wilfried Renner, Sabine Rudnik–Schöneborn, Beate Schlotter‐Weigel, Andreas C. Themistocleous, Jochen H. Weishaupt, Albert C. Ludolph, Thomas Wieland, Feifei Tao, Lisa Abreu, Reinhard Windhager, Manuela Zitzelsberger, Tim M. Strom, Thomas Walther, Steven S. Scherer, Stephan Züchner, Rudolf Martini, Jan Senderek

    منشور في 2016
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  11. 11
    The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy

    The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy حسب Rocío N. Villar‐Quiles, Maja von der Hagen, Corinne Métay, Victoria González, Sandra Donkervoort, Enrico Bertini, Claudia Castiglioni, Denys Chaigne, Jaume Colomer, María L. Cuadrado, Marianne de Visser, Isabelle Desguerre, B. Eymard, Nathalie Goemans, Angela M. Kaindl, Emmanuelle Lagrue, Jürg Lütschg, Edoardo Malfatti, M. Mayer, Luciano Merlini, David Orlikowski, Ulrike Reuner, Mustafa A. Salih, Beate Schlotter‐Weigel, Mechthild Stoetter, Volker Straub, Haluk Topaloğlu, J. Andoni Urtizberea, Anneke J. van der Kooi, Ekkehard Wilichowski, Norma B. Romero, Michel Fardeau, Carsten G. Bönnemann, B. Estournet, Pascale Richard, Susana Quijano‐Roy, Ulrike Schara, Ana Ferreiro

    منشور في 2020
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  12. 12
    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 حسب 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

    منشور في 2025
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