检索结果 - Baets, Jonathan

PhD survival guide: Some brief advice for PhD students 由 Almeida-Souza, Leonardo, Baets, Jonathan

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Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O 由 Raducu, Madalina, Baets, Jonathan, Fano, Oihane, Van Coster, Rudy, Cruces, Jesús

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Exertional rhabdomyolysis and heat stroke: Beware of volatile anesthetic sedation 由 Heytens, Karel, De Bleecker, Jan, Verbrugghe, Walter, Baets, Jonathan, Heytens, Luc

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

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Ascorbic acid for the treatment of Charcot‐Marie‐Tooth disease 由 Gess, Burkhard, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Pareyson, Davide, Young, Peter

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Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar at... 由 Eidhof, Ilse, Baets, Jonathan, Kamsteeg, Erik-Jan, Schenck, Annette, van de Warrenburg, Bart P

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Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis 由 Longo, Fabiana, De Ritis, Daniele, Miluzio, Annarita, Fraticelli, Davide, Baets, Jonathan, Scarlato, Marina, Santorelli, Filippo M., Biffo, Stefano, Maltecca, Francesca

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A novel AARS mutation in a family with dominant myeloneuropathy 由 Motley, William W., Griffin, Laurie B., Mademan, Inès, Baets, Jonathan, De Vriendt, Els, De Jonghe, Peter, Antonellis, Anthony, Jordanova, Albena, Scherer, Steven S.

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STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations 由 Hayer, Stefanie Nicole, Deconinck, Tine, Bender, Benjamin, Smets, Katrien, Züchner, Stephan, Reich, Selina, Schöls, Ludger, Schüle, Rebecca, De Jonghe, Peter, Baets, Jonathan, Synofzik, Matthis

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CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells 由 Blocquel, David, Sun, Litao, Matuszek, Zaneta, Li, Sheng, Weber, Thomas, Kuhle, Bernhard, Kooi, Grace, Wei, Na, Baets, Jonathan, Pan, Tao, Schimmel, Paul, Yang, Xiang-Lei

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Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response 由 Beijer, Danique, Agnew, Thomas, Rack, Johannes Gregor Matthias, Prokhorova, Evgeniia, Deconinck, Tine, Ceulemans, Berten, Peric, Stojan, Milic Rasic, Vedrana, De Jonghe, Peter, Ahel, Ivan, Baets, Jonathan

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GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia 由 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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First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy 由 Smets, Katrien, Duarri, Anna, Deconinck, Tine, Ceulemans, Berten, van de Warrenburg, Bart P., Züchner, Stephan, Gonzalez, Michael Anthony, Schüle, Rebecca, Synofzik, Matthis, Van der Aa, Nathalie, De Jonghe, Peter, Verbeek, Dineke S., Baets, Jonathan

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Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation 由 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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Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation 由 Tulli, Susanna, Del Bondio, Andrea, Baderna, Valentina, Mazza, Davide, Codazzi, Franca, Pierson, Tyler Mark, Ambrosi, Alessandro, Nolte, Dagmar, Goizet, Cyril, Toro, Camilo, Baets, Jonathan, Deconinck, Tine, DeJonghe, Peter, Mandich, Paola, Casari, Giorgio, Maltecca, Francesca

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Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I 由 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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Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum 由 Mademan, Inès, Harmuth, Florian, Giordano, Ilaria, Timmann, Dagmar, Magri, Stefania, Deconinck, Tine, Claaßen, Jens, Jokisch, Daniel, Genc, Gencer, Di Bella, Daniela, Romito, Silvia, Schüle, Rebecca, Züchner, Stephan, Taroni, Franco, Klockgether, Thomas, Schöls, Ludger, De Jonghe, Peter, Bauer, Peter, Consortium, EOA, Baets, Jonathan, Synofzik, Matthis

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Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48) 由 Hirst, Jennifer, Madeo, Marianna, Smets, Katrien, Edgar, James R., Schols, Ludger, Li, Jun, Yarrow, Anna, Deconinck, Tine, Baets, Jonathan, Van Aken, Elisabeth, De Bleecker, Jan, Datiles, Manuel B., Roda, Ricardo H., Liepert, Joachim, Züchner, Stephan, Mariotti, Caterina, De Jonghe, Peter, Blackstone, Craig, Kruer, Michael C.

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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy 由 Claeys, Kristl G., Züchner, Stephan, Kennerson, Marina, Berciano, José, Garcia, Antonio, Verhoeven, Kristien, Storey, Elsdon, Merory, John R., Bienfait, Henriette M. E., Lammens, Martin, Nelis, Eva, Baets, Jonathan, De Vriendt, Els, Berneman, Zwi N., De Veuster, Ilse, Vance, Jefferey M., Nicholson, Garth, Timmerman, Vincent, De Jonghe, Peter

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Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I 由 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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