Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures von Van De Vondel, Liedewei, De Winter, Jonathan, Baets, Jonathan

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Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis von Ehnert, Sabrina, Hauser, Stefan, Hengel, Holger, Höflinger, Philip, Schüle, Rebecca, Lindig, Tobias, Baets, Jonathan, Deconinck, Tine, de Jonghe, Peter, Histing, Tina, Nüssler, Andreas K., Schöls, Ludger, Rattay, Tim W.

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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy von Tsai, Pei-Chien, Soong, Bing-Wen, Mademan, Inès, Huang, Yen-Hua, Liu, Chia-Rung, Hsiao, Cheng-Tsung, Wu, Hung-Ta, Liu, Tze-Tze, Liu, Yo-Tsen, Tseng, Yen-Ting, Lin, Kon-Ping, Yang, Ueng-Cheng, Chung, Ki Wha, Choi, Byung-Ok, Nicholson, Garth A, Kennerson, Marina L, Chan, Chih-Chiang, De Jonghe, Peter, Cheng, Tzu-Hao, Liao, Yi-Chu, Züchner, Stephan, Baets, Jonathan, Lee, Yi-Chung

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Mutations in FAM134B , encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy von Gal, Andreas, Huebner, Antje K, Baets, Jonathan, De Jonghe, Peter, Soehendra, Désirée, Nürnberg, Gudrun, Rotthier, Annelies, Senderek, Jan, Kaether, Christoph, Hübner, Christian A, Hennings, J Christopher, Timmerman, Vincent, Farrell, Sandra A, Pamminger, Torsten, Kurth, Ingo, Topaloglu, Haluk, Nürnberg, Peter

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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients von Perrone, Federica, Nguyen, Hung Phuoc, Van Mossevelde, Sara, Moisse, Matthieu, Sieben, Anne, Santens, Patrick, De Bleecker, Jan, Vandenbulcke, Mathieu, Engelborghs, Sebastiaan, Baets, Jonathan, Cras, Patrick, Vandenberghe, Rik, De Jonghe, Peter, De Deyn, Peter P, Martin, Jean-Jacques, Van Damme, Philip, Van Broeckhoven, Christine, van der Zee, Julie

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KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2 von Rivière, Jean-Baptiste, Ramalingam, Siriram, Lavastre, Valérie, Shekarabi, Masoud, Holbert, Sébastien, Lafontaine, Julie, Srour, Myriam, Merner, Nancy, Rochefort, Daniel, Hince, Pascale, Gaudet, Rébecca, Mes-Masson, Anne-Marie, Baets, Jonathan, Houlden, Henry, Brais, Bernard, Nicholson, Garth A., Van Esch, Hilde, Nafissi, Shahriar, De Jonghe, Peter, Reilly, Mary M., Timmerman, Vincent, Dion, Patrick A., Rouleau, Guy A.

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Defects of mutant DNMT1 are linked to a spectrum of neurological disorders von Baets, Jonathan, Duan, Xiaohui, Wu, Yanhong, Smith, Gordon, Seeley, William W, Mademan, Inès, McGrath, Nicole M, Beadell, Noah C, Khoury, Julie, Botuyan, Maria-Victoria, Mer, Georges, Worrell, Gregory A, Hojo, Kaori, DeLeon, Jessica, Laura, Matilde, Liu, Yo-Tsen, Senderek, Jan, Weis, Joachim, Van den Bergh, Peter, Merrill, Shana L, Reilly, Mary M, Houlden, Henry, Grossman, Murray, Scherer, Steven S, De Jonghe, Peter, Dyck, Peter J, Klein, Christopher J

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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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NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients von Nguyen, Hung Phuoc, Van Mossevelde, Sara, Dillen, Lubina, De Bleecker, Jan L., Moisse, Matthieu, Van Damme, Philip, Van Broeckhoven, Christine, van der Zee, Julie, Engelborghs, Sebastiaan, Crols, Roeland, De Deyn, Peter P., De Jonghe, Peter, Baets, Jonathan, Cras, Patrick, Mercelis, Rudy, Vandenberghe, Rik, Sieben, Anne, Santens, Patrick, Ivanoiu, Adrian, Deryck, Olivier, Vanopdenbosch, Ludo, Delbeck, Jean

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The expanding genetic landscape of hereditary motor neuropathies von Beijer, Danique, Baets, Jonathan

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GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia von Eidhof, Ilse, Baets, Jonathan, Kamsteeg, Erik-Jan, Deconinck, Tine, van Ninhuijs, Lisa, Martin, Jean-Jacques, Schüle, Rebecca, Züchner, Stephan, De Jonghe, Peter, Schenck, Annette, van de Warrenburg, Bart P

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Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis von van der Zee, Julie, Dillen, Lubina, Baradaran-Heravi, Yalda, Gossye, Helena, Koçoğlu, Cemile, Cuyt, Ivy, Dermaut, Bart, Sieben, Anne, Baets, Jonathan, De Jonghe, Peter, Vandenberghe, Rik, De Deyn, Peter, Cras, Patrick, Engelborghs, Sebastiaan, Van Broeckhoven, Christine

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HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling von Malcorps, Matilde, Amor-Barris, Silvia, Burnyte, Birute, Vilimiene, Ramune, Armirola-Ricaurte, Camila, Grigalioniene, Kristina, Ekshteyn, Alexandra, Morkuniene, Ausra, Vaitkevicius, Arunas, De Vriendt, Els, Baets, Jonathan, Scherer, Steven S, Ambrozaityte, Laima, Utkus, Algirdas, Jordanova, Albena, Peeters, Kristien

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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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Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy von Abbott, Jamie A., Meyer‐Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel‐Vanagaite, Lina, Züchner, Stephan, Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, Francklyn, Christopher

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Exertional rhabdomyolysis: Relevance of clinical and laboratory findings, and clues for investigation von Heytens, Karel, De Ridder, Willem, De Bleecker, Jan, Heytens, Luc, Baets, Jonathan

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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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Defects in Axonal Transport in Inherited Neuropathies von Beijer, Danique, Sisto, Angela, Van Lent, Jonas, Baets, Jonathan, Timmerman, Vincent

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Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients von Koch, Catherine, Buono, Suzie, Menuet, Alexia, Robé, Anne, Djeddi, Sarah, Kretz, Christine, Gomez-Oca, Raquel, Depla, Marion, Monseur, Arnaud, Thielemans, Leen, Servais, Laurent, Annoussamy, Mélanie, Seferian, Andreea, Baets, Jonathan, Voermans, Nicole, Behin, Antony, Schara, U., D’Amico, Adele, Hernandez, Arturo, de Lattre, Capucine, Arnal, Jean-Michel, Mayer, Michèle, Cuisset, Jean-Marie, Vuillerot, Carole, Fontaine, Stéphanie, Bellance, Rémy, Laporte, Jocelyn, Cowling, Belinda S.

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Autosomal Recessive Axonal Neuropathy With Neuromyotonia: A Rare Entity von Caetano, Joana Serra, MD, Costa, Carmen, MD, Baets, Jonathan, MD PhD, Zimon PhD, Madgalena, Venâncio PhD, Margarida, Saraiva PhD, Jorge, Negrão, Luís, MD, Fineza, Isabel, MD

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