檢索結果 - 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 由 Burkhard Gess, Jonathan Baets, Peter De Jonghe, Mary M. Reilly, Davide Pareyson, Peter Young

    出版 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 由 Lieve Claes, Liesbet Deprez, Arvid Suls, Jonathan Baets, Katrien Smets, Tine Van Dyck, Tine Deconinck, Albena Jordanova, Peter De Jonghe

    出版 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 由 Stefanie N. Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Lüdger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik

    出版 2017
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    Artigo
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  4. 4
    CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells

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

    出版 2019
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    Artigo
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  5. 5
    Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

    Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy 由 Danique Beijer, Tine Deconinck, Jan De Bleecker, Maria Teresa Dotti, Alessandro Malandrini, Jon Andoni Urtizberea, Miren Zulaica, Adolfo López de Munaín, Bob Asselbergh, Peter De Jonghe, Jonathan Baets

    出版 2019
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    Artigo
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  6. 6
    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 由 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

    出版 2015
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  7. 7
    <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 由 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

    出版 2022
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  8. 8
    Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

    Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation 由 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

    出版 2009
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    Artigo
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  9. 9
    EFNS guidelines on the molecular diagnosis of mitochondrial disorders

    EFNS guidelines on the molecular diagnosis of mitochondrial disorders 由 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

    出版 2009
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    Artigo
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  10. 10
    EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

    EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias 由 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

    出版 2009
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  11. 11
    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 由 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

    出版 2010
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  12. 12
    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 由 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

    出版 2024
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  13. 13
    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 由 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

    出版 2016
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    Carta
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  14. 14
    Complicated spastic paraplegia in patients with <i>AP5Z1</i> mutations (SPG48)

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

    出版 2016
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  15. 15
    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 由 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

    出版 2010
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  16. 16
    Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

    Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy 由 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

    出版 2009
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  17. 17
    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 由 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

    出版 2015
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  18. 18
    De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

    De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function 由 Matthis Synofzik, Katherine L. Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G. Bradley Schaefer, Janina Gburek‐Augustat, Stephan Züchner, Ingeborg Krägeloh‐Mann, Jonathan Baets, Peter De Jonghe, Peter Bauer, S.R. Wayne Chen, Lüdger Schöls, Rebecca Schüle

    出版 2018
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  19. 19
    Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease

    Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease 由 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

    出版 2021
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  20. 20
    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes

    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes 由 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

    出版 2011
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