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

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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... von 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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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications von Rattay, Tim W, Lindig, Tobias, Baets, Jonathan, Smets, Katrien, Deconinck, Tine, Söhn, Anne S, Hörtnagel, Konstanze, Eckstein, Kathrin N, Wiethoff, Sarah, Reichbauer, Jennifer, Döbler-Neumann, Marion, Krägeloh-Mann, Ingeborg, Auer-Grumbach, Michaela, Plecko, Barbara, Münchau, Alexander, Wilken, Bernd, Janauschek, Marc, Giese, Anne-Katrin, De Bleecker, Jan L, Ortibus, Els, Debyser, Martine, Lopez de Munain, Adolfo, Pujol, Aurora, Bassi, Maria Teresa, D'Angelo, Maria Grazia, De Jonghe, Peter, Züchner, Stephan, Bauer, Peter, Schöls, Ludger, Schüle, Rebecca

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Hereditary sensory neuropathy type I von Auer-Grumbach, Michaela

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Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia von Oates, Emily C., Rossor, Alexander M., Hafezparast, Majid, Gonzalez, Michael, Speziani, Fiorella, MacArthur, Daniel G., Lek, Monkol, Cottenie, Ellen, Scoto, Mariacristina, Foley, A. Reghan, Hurles, Matthew, Houlden, Henry, Greensmith, Linda, Auer-Grumbach, Michaela, Pieber, Thomas R., Strom, Tim M., Schule, Rebecca, Herrmann, David N., Sowden, Janet E., Acsadi, Gyula, Menezes, Manoj P., Clarke, Nigel F., Züchner, Stephan, Muntoni, Francesco, North, Kathryn N., Reilly, Mary M.

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Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2 von Rossor, Alexander M, Oates, Emily C, Salter, Hannah K, Liu, Yang, Murphy, Sinead M, Schule, Rebecca, Gonzalez, Michael A, Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A, Houlden, Henry, Jordanova, Albena, Tournev, Iyailo, Chamova, Teodora, Litvinenko, Ivan, Zuchner, Stephan, Herrmann, David N, Blake, Julian, Sowden, Janet E, Acsadi, Gyuda, Rodriguez, Michael L, Menezes, Manoj P, Clarke, Nigel F, Auer Grumbach, Michaela, Bullock, Simon L, Muntoni, Francesco, Reilly, Mary M, North, Kathryn N

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Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies von Klein, Andrea, Lillis, Suzanne, Munteanu, Iulia, Scoto, Mariacristina, Zhou, Haiyan, Quinlivan, Ros, Straub, Volker, Manzur, Adnan Y., Roper, Helen, Jeannet, Pierre-Yves, Rakowicz, Wojtek, Jones, David Hilton, Jensen, Uffe Birk, Wraige, Elizabeth, Trump, Natalie, Schara, Ulrike, Lochmuller, Hanns, Sarkozy, Anna, Kingston, Helen, Norwood, Fiona, Damian, Maxwell, Kirschner, Janbernd, Longman, Cheryl, Roberts, Mark, Auer-Grumbach, Michaela, Hughes, Imelda, Bushby, Kate, Sewry, Caroline, Robb, Stephanie, Abbs, Stephen, Jungbluth, Heinz, Muntoni, Francesco

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MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs von 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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Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C von Auer-Grumbach, Michaela, Olschewski, Andrea, Papi, 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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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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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy von Rebelo, Adriana P., Abrams, Alexander J., Cottenie, Ellen, Horga, Alejandro, Gonzalez, Michael, Bis, Dana M., Sanchez-Mejias, Avencia, Pinto, Milena, Buglo, Elena, Markel, Kasey, Prince, Jeffrey, Laura, Matilde, Houlden, Henry, Blake, Julian, Woodward, Cathy, Sweeney, Mary G., Holton, Janice L., Hanna, Michael, Dallman, Julia E., Auer-Grumbach, Michaela, Reilly, Mary M., Zuchner, Stephan

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Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I von 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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Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy von Evilä, Anni, Palmio, Johanna, Vihola, Anna, Savarese, Marco, Tasca, Giorgio, Penttilä, Sini, Lehtinen, Sara, Jonson, Per Harald, De Bleecker, Jan, Rainer, Peter, Auer-Grumbach, Michaela, Pouget, Jean, Salort-Campana, Emmanuelle, Vilchez, Juan J., Muelas, Nuria, Olive, Montse, Hackman, Peter, Udd, Bjarne

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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy von Evgrafov, Oleg V, Mersiyanova, Irena, Irobi, Joy, Van Den Bosch, Ludo, Dierick, Ines, Leung, Conrad L, Schagina, Olga, Verpoorten, Nathalie, Van Impe, Katrien, Fedotov, Valeriy, Dadali, Elena, Auer-Grumbach, Michaela, Windpassinger, Christian, Wagner, Klaus, Mitrovic, Zoran, Hilton-Jones, David, Talbot, Kevin, Martin, Jean-Jacques, Vasserman, Natalia, Tverskaya, Svetlana, Polyakov, Alexander, Liem, Ronald K H, Gettemans, Jan, Robberecht, Wim, De Jonghe, Peter, Timmerman, Vincent

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

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ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable von Brannagan, 3rd, Thomas H, Auer-Grumbach, Michaela, Berk, John L, Briani, Chiara, Bril, Vera, Coelho, Teresa, Damy, Thibaud, Dispenzieri, Angela, Drachman, Brian M, Fine, Nowell, Gaggin, Hanna K, Gertz, Morie, Gillmore, Julian D, Gonzalez, Esther, Hanna, Mazen, Hurwitz, David R, Khella, Sami L, Maurer, Mathew S, Nativi-Nicolau, Jose, Olugemo, Kemi, Quintana, Luis F, Rosen, Andrew M, Schmidt, Hartmut H, Shehata, Jacqueline, Waddington-Cruz, Marcia, Whelan, Carol, Ruberg, Frederick L

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Human Rab7 mutation mimics features of Charcot–Marie–Tooth neuropathy type 2B in Drosophila von Janssens, Katrien, Goethals, Sofie, Atkinson, Derek, Ermanoska, Biljana, Fransen, Erik, Jordanova, Albena, Auer-Grumbach, Michaela, Asselbergh, Bob, Timmerman, Vincent

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies von Zimoń, Magdalena, Baets, Jonathan, Auer-Grumbach, Michaela, Berciano, José, Garcia, Antonio, Lopez-Laso, Eduardo, Merlini, Luciano, Hilton-Jones, David, McEntagart, Meriel, Crosby, Andrew H., Barisic, Nina, Boltshauser, Eugen, Shaw, Christopher E., Landouré, Guida, Ludlow, Christy L., Gaudet, Rachelle, Houlden, Henry, Reilly, Mary M., Fischbeck, Kenneth H., Sumner, Charlotte J., Timmerman, Vincent, Jordanova, Albena, Jonghe, Peter De

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