検索結果 - Auer-Grumbach, Michaela

Hereditary sensory neuropathy type I 著者: Auer-Grumbach, Michaela

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

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

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Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease 著者: Geuens, Thomas, De Winter, Vicky, Rajan, Nicholas, Achsel, Tilmann, Mateiu, Ligia, Almeida-Souza, Leonardo, Asselbergh, Bob, Bouhy, Delphine, Auer-Grumbach, Michaela, Bagni, Claudia, Timmerman, Vincent

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SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients() 著者: Papić, Lea, Fischer, Dirk, Trajanoski, Slave, Höftberger, Romana, Fischer, Carina, Ströbel, Thomas, Schmidt, Wolfgang M., Bittner, Reginald E., Schabhüttl, Maria, Gruber, Karin, Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela

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Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype 著者: Auer-Grumbach, Michaela, Bode, Heiko, Pieber, Thomas R., Schabhüttl, Maria, Fischer, Dirk, Seidl, Rainer, Graf, Elisabeth, Wieland, Thomas, Schuh, Reinhard, Vacariu, Gerda, Grill, Franz, Timmerman, Vincent, Strom, Tim M., Hornemann, Thorsten

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Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations 著者: Miltenberger-Miltenyi, Gabriel, Schwarzbraun, Thomas, Löscher, Wolfgang N, Wanschitz, Julia, Windpassinger, Christian, Duba, Hans-Christoph, Seidl, Rainer, Albrecht, Gerhard, Weirich-Schwaiger, Helga, Zoller, Heinz, Utermann, Gerd, Auer-Grumbach, Michaela, Janecke, Andreas R

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MORC2 Mutations Cause Axonal Charcot–Marie–Tooth Disease With Pyramidal Signs 著者: Albulym, Obaid M., Kennerson, Marina L., Harms, Matthew B., Drew, Alexander P., Siddell, Anna H., Auer-Grumbach, Michaela, Pestronk, Alan, Connolly, Anne, Baloh, Robert H., Zuchner, Stephan, Reddel, Stephen W., Nicholson, Garth A.

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

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Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation 著者: Rotthier, Annelies, Baets, Jonathan, Vriendt, Els De, Jacobs, An, Auer-Grumbach, Michaela, Lévy, Nicolas, Bonello-Palot, Nathalie, Kilic, Sara Sebnem, Weis, Joachim, Nascimento, Andrés, Swinkels, Marielle, Kruyt, Moyo C., Jordanova, Albena, De Jonghe, Peter, Timmerman, Vincent

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

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SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease 著者: Fischer, Carina, Trajanoski, Slave, Papić, Lea, Windpassinger, Christian, Bernert, Günther, Freilinger, Michael, Schabhüttl, Maria, Arslan-Kirchner, Mine, Javaher-Haghighi, Poupak, Plecko, Barbara, Senderek, Jan, Rauscher, Christian, Löscher, Wolfgang N., Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela

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Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Aus... 著者: Dohrn, Maike F., Auer-Grumbach, Michaela, Baron, Ralf, Birklein, Frank, Escolano-Lozano, Fabiola, Geber, Christian, Grether, Nicolai, Hagenacker, Tim, Hund, Ernst, Sachau, Juliane, Schilling, Matthias, Schmidt, Jens, Schulte-Mattler, Wilhelm, Sommer, Claudia, Weiler, Markus, Wunderlich, Gilbert, Hahn, Katrin

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

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Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy 著者: Liu, Yo-Tsen, Laurá, Matilde, Hersheson, Joshua, Horga, Alejandro, Jaunmuktane, Zane, Brandner, Sebastian, Pittman, Alan, Hughes, Deborah, Polke, James M., Sweeney, Mary G., Proukakis, Christos, Janssen, John C., Auer-Grumbach, Michaela, Zuchner, Stephan, Shields, Kevin G., Reilly, Mary M., Houlden, Henry

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

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Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome 著者: Rohkamm, Barbara, Reilly, Mary M., Lochmüller, Hanns, Schlotter-Weigel, Beate, Barisic, Nina, Schöls, Ludger, Nicholson, Garth, Pareyson, Davide, Laurà, Matilde, Janecke, Andreas R., Miltenberger-Miltenyi, Gabriel, John, Elisabeth, Fischer, Carina, Grill, Franz, Wakeling, William, Davis, Mary, Pieber, Thomas R., Auer-Grumbach, Michaela

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Convolutional Neural Networks for Fully Automated Diagnosis of Cardiac Amyloidosis by Cardiac Magnetic Resonance Imaging 著者: Agibetov, Asan, Kammerlander, Andreas, Duca, Franz, Nitsche, Christian, Koschutnik, Matthias, Donà, Carolina, Dachs, Theresa-Marie, Rettl, René, Stria, Alessa, Schrutka, Lore, Binder, Christina, Kastner, Johannes, Agis, Hermine, Kain, Renate, Auer-Grumbach, Michaela, Samwald, Matthias, Hengstenberg, Christian, Dorffner, Georg, Mascherbauer, Julia, Bonderman, Diana

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

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

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