Search Results - Jonathan Baets

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  1. 1
    Ascorbic acid for the treatment of Charcot-Marie-Tooth disease

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

    Published 2015
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  2. 2
    The<i>SCN1A</i>variant database: a novel research and diagnostic tool

    The<i>SCN1A</i>variant database: a novel research and diagnostic tool by Lieve Claes, Liesbet Deprez, Arvid Suls, Jonathan Baets, Katrien Smets, Tine Van Dyck, Tine Deconinck, Albena Jordanova, Peter De Jonghe

    Published 2009
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  3. 3
    STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

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

    Published 2017
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  4. 4
    First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

    First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy by Katrien Smets, Anna Duarri, Tine Deconinck, Berten Ceulemans, Bart P.C. van de Warrenburg, Stephan Züchner, Michael Gonzalez, Rebecca Schüle, Matthis Synofzik, Nathalie Van der Aa, Peter De Jonghe, Dineke S. Verbeek, Jonathan Baets

    Published 2015
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  5. 5
    <i>RFC1</i> repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

    <i>RFC1</i> repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia by Danique Beijer, Maike F. Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, Gorka Fernández‐Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, Matthis Synofzik, Peter De Jonghe, Stephan Züchner, Jonathan Baets

    Published 2022
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  6. 6
    Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

    Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation by Annelies Rotthier, Jonathan Baets, Els De Vriendt, Alice K. Jacobs, Michaela Auer‐Grumbach, Nicolas Lévy, Nathalie Bonello‐Palot, Sara Şebnem Kılıç, Joachim Weis, A. Nascimento, Mariëlle E.M. Swinkels, Moyo C. Kruyt, Albena Jordanova, Peter De Jonghe, Vincent Timmerman

    Published 2009
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  7. 7
    EFNS guidelines on the molecular diagnosis of mitochondrial disorders

    EFNS guidelines on the molecular diagnosis of mitochondrial disorders by Josef Finsterer, Hanne F. Harbo, Jonathan Baets, Christine Van Broeckhoven, Stefano Di Donato, Bertrand Fontaine, Peter De Jonghe, Alexander Lossos, Timothy Lynch, Caterina Mariotti, Lüdger Schöls, Antonella Spinazzola, Zoltán Szolnoki, Sarah J. Tabrizi, Chantal Tallaksen, Massimo Zeviani, J‐M. Burgunder, Thomas Gasser

    Published 2009
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  8. 8
    EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

    EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias by Thomas Gasser, Josef Finsterer, Jonathan Baets, Christine Van Broeckhoven, Stefano Di Donato, Bertrand Fontaine, Peter De Jonghe, Alexander Lossos, Timothy Lynch, Caterina Mariotti, Lüdger Schöls, Antonella Spinazzola, Zoltán Szolnoki, Sarah J. Tabrizi, Chantal Tallaksen, Massimo Zeviani, J‐M. Burgunder, H. F. Harbo

    Published 2009
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  9. 9
    Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

    Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I by Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens, Jonathan Baets, Anke Penno, Leonardo Almeida‐Souza, Kim van Hoof, An Jacobs, Els De Vriendt, Beate Schlotter‐Weigel, Wolfgang N. Löscher, Petr Vondráček, Pavel Seeman, Peter De Jonghe, Patrick Van Dijck, Albena Jordanova, Thorsten Hornemann, Vincent Timmerman

    Published 2010
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  10. 10
    Dominant <i>NARS1</i> mutations causing axonal Charcot–Marie–Tooth disease expand <i>NARS1</i>-associated diseases

    Dominant <i>NARS1</i> mutations causing axonal Charcot–Marie–Tooth disease expand <i>NARS1</i>-associated diseases by Danique Beijer, Sheila Marte, Jiaxin C Li, Willem De Ridder, Jessie Z Chen, Abigail L. D. Tadenev, Kathy E. Miers, Tine Deconinck, Richard Macdonell, Wilson Marques, Peter De Jonghe, S. L. Pratt, Rebecca Meyer‐Schuman, Stephan Züchner, Anthony Antonellis, Robert W. Burgess, Jonathan Baets

    Published 2024
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  11. 11
    Multisystemic<i>SYNE1</i>ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum

    Multisystemic<i>SYNE1</i>ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum by Inès Mademan, Florian Harmuth, Ilaria Giordano, Dagmar Timmann, Stefania Magri, Tine Deconinck, Jens Claaßen, Daniel Jokisch, Gençer Genç, Daniela Di Bella, Silvia Romito, Rebecca Schüle, Stephan Züchner, Franco Taroni, Thomas Klockgether, Lüdger Schöls, Peter De Jonghe, Peter Bauer, EOA Consortium, Jonathan Baets, Matthis Synofzik

    Published 2016
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  12. 12
    Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

    Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I by Christian Guelly, Peng-Peng Zhu, Lea Leonardis, Lea Papić, Janez Zidar, Maria Schabhüttl, Heimo Strohmaier, Joachim Weis, Tim M. Strom, Jonathan Baets, Jan C. Willems, Peter De Jonghe, Mary M. Reilly, Eleonore Fröhlich, Martina Hatz, Slave Trajanoski, Thomas R. Pieber, Andreas Janecke, Craig Blackstone, Michaela Auer‐Grumbach

    Published 2010
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  13. 13
    Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

    Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy by Kristl G. Claeys, Stephan Züchner, Marina Kennerson, José Berciano, Abel Garcı́a Garcı́a, K. Verhoeven, Elsdon Storey, John Merory, H.M.E. Bienfait, Martin Lammens, Eva Nelis, Jonathan Baets, Els De Vriendt, Zwi Berneman, Ilse De Veuster, Jeffery M. Vance, Garth A. Nicholson, Vincent Timmerman, Peter De Jonghe

    Published 2009
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  14. 14
    Loss of function mutations in<i>HARS</i>cause a spectrum of inherited peripheral neuropathies

    Loss of function mutations in<i>HARS</i>cause a spectrum of inherited peripheral neuropathies by Dana Šafka Brožková, Tine Deconinck, Laurie B. Griffin, A. Ferbert, Jana Haberlová, Radim Mazanec, Petra Laššuthová, Christian Roth, Thanita Pilunthanakul, Bernd Rautenstrauß, Andreas Janecke, Petra Zavadáková, Roman Chrast, Carlo Rivolta, Stephan Züchner, Anthony Antonellis, Asim A. Beg, Peter De Jonghe, Jan Senderek, Pavel Seeman, Jonathan Baets

    Published 2015
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  15. 15
    Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease

    Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease by Evgeniia Prokhorova, Thomas Agnew, Anne R. Wondisford, Michael Tellier, Nicole Kaminski, Danique Beijer, James Holder, Joséphine Groslambert, Marcin J. Suskiewicz, Kang Zhu, Julia M. Reber, Sarah C. Krassnig, Luca Palazzo, Shona Murphy, Michael L. Nielsen, Aswin Mangerich, Dragana Ahel, Jonathan Baets, Roderick J. O’Sullivan, Ivan Ahel

    Published 2021
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  16. 16
    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes

    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes by M. Zimoń, Jonathan Baets, Gian Maria Fabrizi, E. Jaakkola, Dagmara Kabzińska, Jacek Pilch, Alice B. Schindler, David R. Cornblath, Kenneth H. Fischbeck, Michaela Auer‐Grumbach, Christian Guelly, Nina Huber, Els De Vriendt, Vincent Timmerman, Ueli Suter, I Hausmanowa-Pétrusewicz, Axel Niemann, Andrzej Kochański, Peter De Jonghe, Albena Jordanova

    Published 2011
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  17. 17
    Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients

    Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients by Laura Krumm, Tatyana Pozner, Naime Zagha, Roland Coras, Philipp Arnold, Thanos Tsaktanis, Kathryn P. Scherpelz, Marie Y. Davis, Johanna Kaindl, Iris Stolzer, Patrick Süß, Mukhran Khundadze, Christian A. Hübner, Markus J. Riemenschneider, Jonathan Baets, Claudia Günther, Suman Jayadev, Veit Rothhammer, Florian Krach, Jürgen Winkler, Beate Winner, Martin Regensburger

    Published 2024
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  18. 18
    Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

    Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 by Uwe Kornak, Inès Mademan, Marte Schinke, Martin Voigt, Peter Krawitz, Jochen Hecht, Florian Barvencik, Thorsten Schinke, Sebastian Gießelmann, Frank Timo Beil, A Pou-Serradell, Juan J. Vílchez, Christian Beetz, Tine Deconinck, Vincent Timmerman, Christoph Kaether, Peter De Jonghe, Christian A. Hübner, Andreas Gal, Michael Amling, Stefan Mundlos, Jonathan Baets, Ingo Kurth

    Published 2014
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  19. 19
    C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

    C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD by Pedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, Pontus LeBlanc, Lauren Versluys, Katie E. Copley, Jack D. Rubien, Christopher Altheimer, Myra Peetermans, Elke Debackere, Olivier Vanakker, Sandra Janssens, Jonathan Baets, Kristof Verhoeven, Martin Lammens, Sofie Symoens, Boél De Paepe, Sami J. Barmada, James Shorter, Jan De Bleecker, Elke Bogaert, Bart Dermaut

    Published 2023
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  20. 20
    Clinical features of<i>TBK1</i>carriers compared with<i>C9orf72</i>,<i>GRN</i>and non-mutation carriers in a Belgian cohort

    Clinical features of<i>TBK1</i>carriers compared with<i>C9orf72</i>,<i>GRN</i>and non-mutation carriers in a Belgian cohort by Sara Van Mossevelde, Julie van der Zee, Ilse Gijselinck, Sebastiaan Engelborghs, Anne Sieben, Tim Van Langenhove, Jan De Bleecker, Jonathan Baets, Mathieu Vandenbulcke, Koen Van Laere, Sarah Ceyssens, Marleen Van den Broeck, Karin Peeters, Maria Mattheijssens, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Jean‐Jacques Martin, Peter P. De Deyn, Marc Cruts, Christine Van Broeckhoven

    Published 2015
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