Resultats de la cerca - Michaela Auer‐Grumbach

Refinar resultats
  1. 1
    Hereditary sensory neuropathy type I

    Hereditary sensory neuropathy type I per Michaela Auer‐Grumbach

    Publicat 2008
    Obtenir text complet Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  2. 2
    Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

    Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance per Josef Finsterer, Wolfgang N. Löscher, Stefan Quasthoff, Julia Wanschitz, Michaela Auer‐Grumbach, Giovanni Stévanin

    Publicat 2012
    Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  3. 3
    A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1

    A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1 per Dirk Fischer, Maria Schabhüttl, Thomas Wieland, Reinhard Windhager, Tim M. Strom, Michaela Auer‐Grumbach

    Publicat 2014
    Obtenir text complet Obtenir text complet
    Carta
    Afegir a favorits
    Guardat en:
  4. 4
    Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies

    Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies per Mansour Haidar, Bob Asselbergh, Elias Adriaenssens, Vicky De Winter, Jean‐Pierre Timmermans, Michaela Auer‐Grumbach, Manisha Juneja, Vincent Timmerman

    Publicat 2019
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  5. 5
    A Role for Rab7 in the Movement of Secretory Granules in Cytotoxic T Lymphocytes

    A Role for Rab7 in the Movement of Secretory Granules in Cytotoxic T Lymphocytes per Tiziana Daniele, Yvonne Hackmann, Alex T. Ritter, Matt Wenham, Sarah Booth, Giovanna Bossi, Michael Schintler, Michaela Auer‐Grumbach, Gillian M. Griffiths

    Publicat 2011
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  6. 6
    <scp><i>MORC</i></scp><i>2</i> mutations cause axonal <scp>C</scp>harcot–<scp>M</scp>arie–<scp>T</scp>ooth disease with pyramidal signs

    <scp><i>MORC</i></scp><i>2</i> mutations cause axonal <scp>C</scp>harcot–<scp>M</scp>arie–<scp>T</scp>ooth disease with pyramidal signs per Obaid Albulym, Marina Kennerson, Matthew B. Harms, Alexander P. Drew, Anna Siddell, Michaela Auer‐Grumbach, Alan Pestronk, Anne M. Connolly, Robert H. Baloh, Stephan Züchner, Stephen Reddel, Garth A. Nicholson

    Publicat 2015
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  7. 7
    Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

    Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy per Kristien Verhoeven, Peter De Jonghe, Katrien Coen, Nathalie Verpoorten, Michaela Auer‐Grumbach, Jennifer M. Kwon, David Fitzpatrick, Eric Schmedding, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Klaus Wagner, Hans‐Peter Hartung, Vincent Timmerman

    Publicat 2003
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  8. 8
    Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

    Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V per Christian Beetz, Thomas R. Pieber, Nicole Hertel, Maria Schabhüttl, Carina Fischer, Slave Trajanoski, Elisabeth Graf, Silke Keiner, Ingo Kurth, Thomas Wieland, Rita-Eva Varga, Vincent Timmerman, Mary M. Reilly, Tim M. Strom, Michaela Auer‐Grumbach

    Publicat 2012
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  9. 9
    Extreme phenotypic diversity and nonpenetrance in families with the <i>LMNA</i> gene mutation R644C

    Extreme phenotypic diversity and nonpenetrance in families with the <i>LMNA</i> gene mutation R644C per Julia Rankin, Michaela Auer‐Grumbach, Warwick Bagg, Kevin Colclough, Nguyễn Thùy Dương, Jane Fenton‐May, Andrew T. Hattersley, Judith A. Hudson, Philip Jardine, Dragana Josifova, Cheryl Longman, Robert McWilliam, Katharine R. Owen, Mark S. Walker, Manfred Wehnert, Sian Ellard

    Publicat 2008
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  10. 10
    Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

    Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation per Annelies Rotthier, Jonathan Baets, Els De Vriendt, Alice K. Jacobs, Michaela Auer‐Grumbach, Nicolas Lévy, Nathalie Bonello‐Palot, Sara Şebnem Kılıç, Joachim Weis, A. Nascimento, Mariëlle E.M. Swinkels, Moyo C. Kruyt, Albena Jordanova, Peter De Jonghe, Vincent Timmerman

    Publicat 2009
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  11. 11
    Extended phenotypic spectrum of <i>KIF5A</i> mutations

    Extended phenotypic spectrum of <i>KIF5A</i> mutations per Yo-Tsen Liu, Matilde Laurá, Joshua Hersheson, Alejandro Horga, Zane Jaunmuktane, Sebastian Brandner, Alan Pittman, Deborah Hughes, James M. Polke, Mary G. Sweeney, Christos Proukakis, John C. Janssen, Michaela Auer‐Grumbach, Stephan Züchner, Kevin Shields, Mary M. Reilly, Henry Houlden

    Publicat 2014
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  12. 12
    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 per 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

    Publicat 2011
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  13. 13
    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 per 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

    Publicat 2010
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  14. 14
    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 per 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

    Publicat 2007
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  15. 15
    Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

    Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I per Christian Guelly, Peng-Peng Zhu, Lea Leonardis, Lea Papić, Janez Zidar, Maria Schabhüttl, Heimo Strohmaier, Joachim Weis, Tim M. Strom, Jonathan Baets, Jan C. Willems, Peter De Jonghe, Mary M. Reilly, Eleonore Fröhlich, Martina Hatz, Slave Trajanoski, Thomas R. Pieber, Andreas Janecke, Craig Blackstone, Michaela Auer‐Grumbach

    Publicat 2010
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  16. 16
    Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

    Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome per Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi, Heema Patel, Erwin Petek, Gerd Hörl, Roland Malli, Johanna A. Reed, Ines Dierick, Nathalie Verpoorten, Thomas T. Warner, Christos Proukakis, Peter Van den Bergh, Christine Verellen, Lionel Van Maldergem, Luciano Merlini, Peter De Jonghe, Vincent Timmerman, Andrew H. Crosby, Klaus Wagner

    Publicat 2004
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  17. 17
    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes

    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes per M. Zimoń, Jonathan Baets, Gian Maria Fabrizi, E. Jaakkola, Dagmara Kabzińska, Jacek Pilch, Alice B. Schindler, David R. Cornblath, Kenneth H. Fischbeck, Michaela Auer‐Grumbach, Christian Guelly, Nina Huber, Els De Vriendt, Vincent Timmerman, Ueli Suter, I Hausmanowa-Pétrusewicz, Axel Niemann, Andrzej Kochański, Peter De Jonghe, Albena Jordanova

    Publicat 2011
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  18. 18
    DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

    DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4) per Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh, Ian P. Blair, Imke Puls, Joy Irobi, Ines Dierick, Annette Abel, Marina Kennerson, Bruce A. Rabin, Garth A. Nicholson, Michaela Auer‐Grumbach, Klaus Wagner, Peter De Jonghe, John W. Griffin, Kenneth H. Fischbeck, Vincent Timmerman, David R. Cornblath, Phillip F. Chance

    Publicat 2004
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  19. 19
    Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

    Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 per Alleene V. Strickland, Maria Schabhüttl, H. Offenbacher, Matthis Synofzik, Natalie Hauser, Michaela Brunner‐Krainz, U Gruber‐Sedlmayr, Steven A. Moore, Reinhard Windhager, Benjamin Bender, Matthew B. Harms, Stephan Klebe, Peter Young, Marina Kennerson, Avencia Sanchez Mejias Garcia, Michael Gonzalez, Stephan Züchner, Rebecca Schüle, Michael E. Shy, Michaela Auer‐Grumbach

    Publicat 2015
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  20. 20
    Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

    Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy per Adriana Rebelo, Alexander J. Abrams, Ellen Cottenie, Alejandro Horga, Michael Gonzalez, Dana M. Bis‐Brewer, Avencia Sánchez-Mejías, Milena Pinto, Elena Buglo, Kasey Markel, Jeffrey S. Prince, Matilde Laurá, Henry Houlden, Julian Blake, Cathy E. Woodward, Mary G. Sweeney, Janice L. Holton, Michael G. Hanna, Julia E. Dallman, Michaela Auer‐Grumbach, Mary M. Reilly, Stephan Züchner

    Publicat 2016
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:

Eines de cerca: