Rezultati - Jan Senderek

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  1. 1
    Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

    Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy od Jan Senderek

    Izdano 2003
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  2. 2
    Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

    Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes od Hamid Azzedine, Jan Senderek, Carlo Rivolta, Roman Chrast

    Izdano 2012
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  3. 3
    A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

    A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD) od Markus Moser, Sonja Matthiesen, Jutta Kirfel, Hubert Schorle, Carsten Bergmann, Jan Senderek, Sabine Rudnik–Schöneborn, Klaus Zerres, Reinhard Buettner

    Izdano 2005
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  4. 4
    A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

    A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome od Marina Dusl, Jan Senderek, Juliane S. Müller, Johannes G. Vogel, Anja Pertl, Rolf Stucka, Hanns Lochmüller, Robert David, Angela Abicht

    Izdano 2015
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  5. 5
    Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15

    Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15 od Jan Senderek, Carsten Bergmann, Susanne N. Weber, Uwe‐Peter Ketelsen, Hubert Schorle, Sabine Rudnik–Schöneborn, Reinhard Büttner, Eckhard Buchheim, Klaus Zerres

    Izdano 2003
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  6. 6
    <i>PKHD1</i>mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)

    <i>PKHD1</i>mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD) od Carsten Bergmann, Jan Senderek, Frank Schneider, Christian Dornia, Fabian Küpper, Thomas Eggermann, Sabine Rudnik–Schöneborn, Jutta Kirfel, Markus Moser, Reinhard Büttner, Klaus Zerres

    Izdano 2004
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  7. 7
    Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling

    Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling od Estelle Arnaud Gouttenoire, Vincenzo Lupo, Eduardo Calpena, Luca Bartesaghi, Fanny Schüpfer, Jean‐Jacques Médard, Fabienne Maurer, J. Beckmann, Jan Senderek, Francesc Palau, Carmen Espinós, Roman Chrast

    Izdano 2013
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  8. 8
    Identification of mutations in the<i>MYO9A</i>gene in patients with congenital myasthenic syndrome

    Identification of mutations in the<i>MYO9A</i>gene in patients with congenital myasthenic syndrome od Emily O’Connor, Ana Töpf, Juliane S. Müller, Dan Cox, Teresinha Evangelista, J. Colomer, Angela Abicht, Jan Senderek, Oswald Hasselmann, Ahmet Yaramış, Steven H. Laval, Hanns Lochmüller

    Izdano 2016
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  9. 9
    Myelin is dependent on the Charcot–Marie–Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

    Myelin is dependent on the Charcot–Marie–Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells od Michael Horn, Reto Baumann, Jorge A. Pereira, Páris Sidiropoulos, Christian Somandin, Hans Welzl, Claudia Stendel, Tessa Lühmann, Carsten Wessig, Klaus V. Toyka, João B. Relvas, Jan Senderek, Ueli Suter

    Izdano 2012
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  10. 10
    The p.P56S mutation in the <i>VAPB</i> gene is not due to a single founder: the first European case

    The p.P56S mutation in the <i>VAPB</i> gene is not due to a single founder: the first European case od A. Funke, Marc Esser, Alexander Krüttgen, Joachim Weis, Miguel Mitne‐Neto, Monize Lazar, Agnes L. Nishimura, AD Sperfeld, P Trillenberg, Jan Senderek, Michael Krasnianski, Mayana Zatz, S. Zierz, Marcus Deschauer

    Izdano 2010
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  11. 11
    SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

    SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system od Estelle Arnaud, Jennifer Zenker, Anne-Sophie de Preux Charles, Claudia Stendel, Andreas Roos, Jean‐Jacques Médard, Nicolas Tricaud, H. O. Kleine, Bernhard Lüscher, Joachim Weis, Ueli Suter, Jan Senderek, Roman Chrast

    Izdano 2009
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  12. 12
    Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations

    Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations od Laszlo Furu, Luiz F. Onuchic, Ali G. Gharavi, Xiaoying Hou, Ernie Esquivel, Yasuyuki Nagasawa, Carsten Bergmann, Jan Senderek, Ellis D. Avner, Klaus Zerres, Gregory G. Germino, Lisa M. Guay‐Woodford, Stefan Somlo

    Izdano 2003
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  13. 13
    SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

    SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling od Claudia Stendel, Andreas Roos, H. O. Kleine, Estelle Arnaud, Murat Özçelik, Páris Sidiropoulos, Jennifer Zenker, Fanny Schüpfer, Ute Lehmann, Radoslaw M. Sobota, David W. Litchfield, Bernhard Lüscher, Roman Chrast, Ueli Suter, Jan Senderek

    Izdano 2010
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  14. 14
    Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia

    Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia od Carsten Bergmann, Jan Senderek, Dirk Anhuf, Christian T. Thiel, Arif B. Ekici, Pamela Poblete‐Gutiérrez, Maurice A. M. Van Steensel, Dominik Seelow, Gudrun Nürnberg, Hans H. Schild, Peter Nürnberg, André Reis, Jorge Frank, Klaus Zerres

    Izdano 2006
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  15. 15
    Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

    Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) od Carsten Bergmann, Jan Senderek, Ellen Windelen, Fabian Küpper, Iris Middeldorf, Frank Schneider, Christian Dornia, Sabine Rudnik–Schöneborn, Martin Konrad, Claus Peter Schmitt, Tomáš Seeman, Thomas J. Neuhaus, Udo Vester, Jutta Kirfel, Reinhard Büttner, Klaus Zerres

    Izdano 2005
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  16. 16
    Identification and Characterization of Pkhd1, the Mouse Orthologue of the Human ARPKD Gene

    Identification and Characterization of Pkhd1, the Mouse Orthologue of the Human ARPKD Gene od Yasuyuki Nagasawa, Sonja Matthiesen, Luiz F. Onuchic, Xiaoying Hou, Carsten Bergmann, Ernie Esquivel, Jan Senderek, Zhiyong Ren, Raoul Zeltner, Laszlo Furu, Ellis D. Avner, Markus Moser, Stefan Somlo, Lisa M. Guay‐Woodford, Reinhard Büttner, Klaus Zerres, Gregory G. Germino

    Izdano 2002
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  17. 17
    Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)

    Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1) od Carsten Bergmann, Jan Senderek, Beate Sedlacek, Ioannis Pegiazoglou, Patricia Puglia, Thomas Eggermann, Sabine Rudnik-Sch�neborn, Laszlo Furu, Luiz F. Onuchic, Monica de Baca, Gregory G. Germino, Lisa M. Guay‐Woodford, Stefan Somlo, Markus Moser, Reinhard BuCombining Diaeresisttner, Klaus Zerres

    Izdano 2003
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  18. 18
    Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

    Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin od Michaela Auer‐Grumbach, Martin Weger, Regina Fink‐Puches, Lea Papić, Eleonore Fröhlich, Piet Auer‐Grumbach, Laila El Shabrawi‐Caelen, Maria Schabhüttl, Christian Windpassinger, Jan Senderek, Herbert Budka, Slave Trajanoski, Andreas Janecke, Anton Haas, Dieter Metze, Thomas R. Pieber, Christian Guelly

    Izdano 2011
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  19. 19
    PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats

    PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta... od Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa, Xiaoying Hou, Thomas Eggermann, Zhiyong Ren, Carsten Bergmann, Jan Senderek, Ernie Esquivel, Raoul Zeltner, Sabine Rudnik–Schöneborn, Michael Mrug, William E. Sweeney, Ellis D. Avner, Klaus Zerres, Lisa M. Guay‐Woodford, Stefan Somlo, Gregory G. Germino

    Izdano 2002
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  20. 20
    <i>PKHD1</i>mutations in autosomal recessive polycystic kidney disease (ARPKD)

    <i>PKHD1</i>mutations in autosomal recessive polycystic kidney disease (ARPKD) od Carsten Bergmann, Jan Senderek, Fabian Küpper, Frank Schneider, Christian Dornia, Ellen Windelen, Thomas Eggermann, Sabine Rudnik–Schöneborn, Jutta Kirfel, Laszlo Furu, Luiz F. Onuchic, Sandro Rossetti, Peter C. Harris, Stefan Somlo, Lisa M. Guay‐Woodford, Gregory G. Germino, Markus Moser, Reinhard Büttner, Klaus Zerres

    Izdano 2004
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