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

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MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy von Baumann, Matthias, Schreiber, Herbert, Schlotter‐Weigel, Beate, Löscher, Wolfgang N., Stucka, Rolf, Karall, Daniela, Strom, Tim M., Bauer, Peter, Krabichler, Birgit, Fauth, Christine, Glaeser, Dieter, Senderek, Jan

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

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Bi-allelic truncating mutations in VWA1 cause neuromyopathy von Deschauer, Marcus, Hengel, Holger, Rupprich, Katrin, Kreiß, Martina, Schlotter-Weigel, Beate, Grimmel, Mona, Admard, Jakob, Schneider, Ilka, Alhaddad, Bader, Gazou, Anastasia, Sturm, Marc, Vorgerd, Matthias, Balousha, Ghassan, Balousha, Osama, Falna, Mohammed, Kirschke, Jan S, Kornblum, Cornelia, Jordan, Berit, Kraya, Torsten, Strom, Tim M, Weis, Joachim, Schöls, Ludger, Schara, Ulrike, Zierz, Stephan, Riess, Olaf, Meitinger, Thomas, Haack, Tobias B

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

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Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I von 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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Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation von Auer-Grumbach, Michaela, Schlotter-Weigel, Beate, Lochmüller, Hanns, Strobl-Wildemann, Gertrud, Auer-Grumbach, Piet, Fischer, Renate, Offenbacher, Hans, Zwick, Ernst Bernhard, Robl, Tanja, Hartl, Gerald, Hartung, Hans-Peter, Wagner, Klaus, Windpassinger, Christian

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

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Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients von Müller-Felber, Wolfgang, Horvath, Rita, Gempel, Klaus, Podskarbi, Teodor, Shin, Yoon, Pongratz, Dieter, Walter, Maggie C, Baethmann, Martina, Schlotter-Weigel, Beate, Lochmüller, Hanns, Schoser, Benedikt

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

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HIV-Associated Cerebellar Dysfunction and Improvement with Aminopyridine Therapy: A Case Report von Hoyer, Carolin, Alonso, Angelika, Schlotter-Weigel, Beate, Platten, Michael, Fatar, Marc

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

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

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

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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME von Senderek, Jan, Lassuthova, Petra, Kabzińska, Dagmara, Abreu, Lisa, Baets, Jonathan, Beetz, Christian, Braathen, Geir J., Brenner, David, Dalton, Joline, Dankwa, Lois, Deconinck, Tine, De Jonghe, Peter, Dräger, Bianca, Eggermann, Katja, Ellis, Melina, Fischer, Carina, Stojkovic, Tanya, Herrmann, David N., Horvath, Rita, Høyer, Helle, Iglseder, Stephan, Kennerson, Marina, Kinslechner, Katharina, Kohler, Jennefer N., Kurth, Ingo, Laing, Nigel G., Lamont, Phillipa J., N. Löscher, Wolfgang, Ludolph, Albert, Marques, Wilson, Nicholson, Garth, Ong, Royston, Petri, Susanne, Ravenscroft, Gianina, Rebelo, Adriana, Ricci, Giulia, Rudnik-Schöneborn, Sabine, Schirmacher, Anja, Schlotter-Weigel, Beate, Schoels, Ludger, Schüle, Rebecca, Synofzik, Matthis, Francou, Bruno, Strom, Tim M., Wagner, Johannes, Walk, David, Wanschitz, Julia, Weinmann, Daniela, Weishaupt, Jochen, Wiessner, Manuela, Windhager, Reinhard, Young, Peter, Züchner, Stephan, Toegel, Stefan, Seeman, Pavel, Kochański, Andrzej, Auer-Grumbach, Michaela

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The long-term outcome of anti-Jo-1-positive inflammatory myopathies von SPÄTH, Michael, SCHRÖDER, Mira, SCHLOTTER-WEIGEL, Beate, WALTER, Maggie C, HAUTMANN, Hubert, LEINSINGER, Gerda, PONGRATZ, Dieter, MÜLLER-FELBER, Wolfgang

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Intraepidermal nerve fibre density as biomarker in Charcot–Marie–Tooth disease type 1A von Hartmannsberger, Beate, Doppler, Kathrin, Stauber, Julia, Schlotter-Weigel, Beate, Young, Peter, Sereda, Michael W, Sommer, Claudia

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

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The clinical, histologic, and genotypic spectrum of SEPN1 -related myopathy von Villar-Quiles, Rocio, von Der Hagen, Maja, Métay, Corinne, Gonzalez, Victoria, Donkervoort, Sandra, Bertini, Enrico, Castiglioni, Claudia, Chaigne, Denys, Colomer, Jaume, Cuadrado, Maria Luz, de Visser, Marianne, Desguerre, Isabelle, Eymard, Bruno, Goemans, Nathalie, Kaindl, Angela, Lagrue, Emmanuelle, Lütschg, Jürg, Malfatti, Edoardo, Mayer, Michèle, Merlini, Luciano, Orlikowski, David, Reuner, Ulrike, Salih, Mustafa, Schlotter-Weigel, Beate, Stoetter, Mechthild, Straub, Volker, Topaloglu, Haluk, Urtizberea, J Andoni, van Der Kooi, Anneke, Wilichowski, Ekkehard, Romero, Norma, Fardeau, Michel, Bönnemann, Carsten, Estournet, Brigitte, Richard, Pascale, Quijano-Roy, Susana, Schara, Ulrike, Ferreiro, Ana

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Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery–Dreifuss muscular dystrophy von Walter, Maggie C., Witt, Thomas N., Weigel, Beate Schlotter, Reilich, Peter, Richard, Pascale, Pongratz, Dieter, Bonne, Gisèle, Wehnert, Manfred S., Lochmüller, Hanns

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