Search Results - "BAETS, Jonathan"

Mechanisms of disease in hereditary sensory and autonomic neuropathies by Rotthier, Annelies, Baets, Jonathan, Timmerman, Vincent, Janssens, Katrien

“…Understanding the genetic mutations that cause hereditary sensory and autonomic neuropathies (HSANs) is crucial to identify new therapeutic targets for…”
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Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures by Van De Vondel, Liedewei, De Winter, Jonathan, Baets, Jonathan

“…[...]the variant filtering strategy used with a Minor Allele Frequency (MAF) cut-off of 1% in the healthy population is not in accordance with the severity and…”
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Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis by 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.

“…Hereditary spastic paraplegia type 5 (SPG5) is an autosomal recessively inherited movement disorder characterized by progressive spastic gait disturbance and…”
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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy by 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

“…Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterized by distal limb muscle weakness and atrophy. Although at…”
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Mutations in FAM134B , encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy by 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

“…Hereditary sensory and autonomic neuropathy type II (HSAN II) leads to severe mutilations because of impaired nociception and autonomic dysfunction. Here we…”
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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients by 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

“…Abstract Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis–(ALS) and frontotemporal dementia–(FTD) associated genes, CHCHD10 and…”
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KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2 by 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.

“…Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare autosomal-recessive disorder characterized by peripheral nerve degeneration resulting in…”
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Defects of mutant DNMT1 are linked to a spectrum of neurological disorders by 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

“…We report a broader than previously appreciated clinical spectrum for hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and a potential pathogenic…”
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Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I by 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

“…Hereditary sensory and autonomic neuropathy type I (HSAN-I) is an axonal peripheral neuropathy associated with progressive distal sensory loss and severe…”
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NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients by 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

“…We evaluated the genetic impact of the amyotrophic lateral sclerosis (ALS) risk gene never in mitosis gene a–related kinase 1 (NEK1) in a Belgian cohort of 278…”
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GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia by 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

“…Eidhof et al. report a new subtype of autosomal recessive cerebellar ataxia caused by mutations in GDAP2, and show that Gdap2 knockdown in Drosophila…”
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Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis by 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

“…Neurodegenerative disorders like frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are pathologically characterized by toxic protein…”
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HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling by 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

“…Recessive loss-of-function variations in HINT1 cause a peculiar subtype of Charcot-Marie-Tooth disease: neuromyotonia and axonal neuropathy (NMAN;…”
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Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I by 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

“…Hereditary sensory neuropathy type I (HSN I) is an axonal form of autosomal-dominant hereditary motor and sensory neuropathy distinguished by prominent sensory…”
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Limb girdle muscular dystrophy due to mutations in POMT2 by Østergaard, Sofie Thurø, Johnson, Katherine, Stojkovic, Tanya, Krag, Thomas, De Ridder, Willem, De Jonghe, Peter, Baets, Jonathan, Claeys, Kristl G, Fernández-Torrón, Roberto, Phillips, Lauren, Topf, Ana, Colomer, Jaume, Nafissi, Shahriar, Jamal-Omidi, Shirin, Bouchet-Seraphin, Celine, Leturcq, France, MacArthur, Daniel G, Lek, Monkol, Xu, Liwen, Nelson, Isabelle, Straub, Volker, Vissing, John

“…BackgroundMutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently,…”
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Exertional rhabdomyolysis: Relevance of clinical and laboratory findings, and clues for investigation by Heytens, Karel, De Ridder, Willem, De Bleecker, Jan, Heytens, Luc, Baets, Jonathan

“…Some degree of exertional rhabdomyolysis (ER), striated muscle breakdown associated with strenuous exercise, is a well-known phenomenon associated with…”
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Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy by 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

“…Histidyl‐tRNA synthetase (HARS) ligates histidine to cognate tRNA molecules, which is required for protein translation. Mutations in HARS cause the dominant…”
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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies by 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

“…Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date. Recently, dominant mutations in…”
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Defects in Axonal Transport in Inherited Neuropathies by Beijer, Danique, Sisto, Angela, Van Lent, Jonas, Baets, Jonathan, Timmerman, Vincent

“…Axonal transport is a highly complex process essential for sustaining proper neuronal functioning. Disturbances can result in an altered neuronal homeostasis,…”
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Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients by 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.

“…Myotubular myopathy, also called X-linked centronuclear myopathy (XL-CNM), is a severe congenital disease targeted for therapeutic trials. To date, biomarkers…”
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