Ngā hua rapu - 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 mā Jan Senderek

    I whakaputaina 2003
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Hamid Azzedine, Jan Senderek, Carlo Rivolta, Roman Chrast

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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) mā Markus Moser, Sonja Matthiesen, Jutta Kirfel, Hubert Schorle, Carsten Bergmann, Jan Senderek, Sabine Rudnik–Schöneborn, Klaus Zerres, Reinhard Buettner

    I whakaputaina 2005
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Marina Dusl, Jan Senderek, Juliane S. Müller, Johannes G. Vogel, Anja Pertl, Rolf Stucka, Hanns Lochmüller, Robert David, Angela Abicht

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Jan Senderek, Carsten Bergmann, Susanne N. Weber, Uwe‐Peter Ketelsen, Hubert Schorle, Sabine Rudnik–Schöneborn, Reinhard Büttner, Eckhard Buchheim, Klaus Zerres

    I whakaputaina 2003
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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) mā Carsten Bergmann, Jan Senderek, Frank Schneider, Christian Dornia, Fabian Küpper, Thomas Eggermann, Sabine Rudnik–Schöneborn, Jutta Kirfel, Markus Moser, Reinhard Büttner, Klaus Zerres

    I whakaputaina 2004
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling

    Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling mā 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

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Carta
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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 mā 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

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2003
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2006
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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) mā 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

    I whakaputaina 2005
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2002
    Whiwhi kuputuhi katoa
    Artigo
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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) mā 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

    I whakaputaina 2003
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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... mā 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

    I whakaputaina 2002
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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) mā 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

    I whakaputaina 2004
    Whiwhi kuputuhi katoa
    Revisão
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