检索结果 - Tine Deconinck

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  1. 1
    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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  2. 2
    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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  3. 3
    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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  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 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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  5. 5
    Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

    Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions 由 Paola S. Denora, Katrien Smets, Federica Zolfanelli, Chantal Ceuterick-de Groote, Carlo Casali, Tine Deconinck, Anne Sieben, Michael Gonzales, Stephan Züchner, Frédéric Darios, D. Peeters, Alexis Brice, Alessandro Malandrini, Peter De Jonghe, Filippo M. Santorelli, Giovanni Stévanin, Jean‐Jacques Martin, Khalid Hamid El Hachimi

    出版 2016
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  6. 6
    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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  7. 7
    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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  8. 8
    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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  9. 9
    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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  10. 10
    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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  11. 11
    Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

    Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia 由 Elodie Martin, Rebecca Schüle, Katrien Smets, Agnès Rastetter, Amir Boukhris, José L. Loureiro, Michael Gonzalez, Emeline Mundwiller, Tine Deconinck, Marc Wessner, Ludmila Jornéa, Andrés Caballero-Oteyza, Alexandra Dürr, Jean‐Jacques Martin, Lüdger Schöls, Chokri Mhiri, Foudil Lamari, Stephan Züchner, Peter De Jonghe, Edor Kabashi, Alexis Brice, Giovanni Stévanin

    出版 2013
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  12. 12
    Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

    Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline 由 Katia Hardies, Yiying Cai, Claude Jardel, Anna Jansen, Mian Cao, Patrick May, Tania Djémié, C. Hachon Le Camus, Kathelijn Keymolen, Tine Deconinck, Vikas Bhambhani, Catherine Long, Samin A. Sajan, Katherine L. Helbig, Arvid Suls, Rudi Balling, Ingo Helbig, Peter De Jonghe, Christel Depienne, Pietro De Camilli, Sarah Weckhuysen

    出版 2016
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  13. 13
    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 由 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

    出版 2014
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  14. 14
    Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

    Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4 由 Claudia Stendel, Andreas Roos, Tine Deconinck, Jorge A. Pereira, François Castagner, Axel Niemann, Janbernd Kirschner, Rudolf Korinthenberg, Uwe‐Peter Ketelsen, Esra Battaloğlu, Yeşim Parman, Garth A. Nicholson, Robert Ouvrier, Jürgen Seeger, Peter De Jonghe, Joachim Weis, Alexander Krüttgen, Sabine Rudnik–Schöneborn, Carsten Bergmann, Ueli Suter, Klaus Zerres, Vincent Timmerman, João B. Relvas, Jan Senderek

    出版 2007
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  15. 15
    Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

    Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 由 Gladys Montenegro, Adriana Rebelo, James W. Connell, Rachel Allison, Carla Babalini, M -A. D'Aloia, Pasqua Montieri, Rebecca Schüle, Hiroyuki Ishiura, Justin Price, Alleene V. Strickland, Michael Gonzalez, Lisa Baumbach‐Reardon, Tine Deconinck, Jia Huang, Giorgio Bernardi, Jeffery M. Vance, Mark T. Rogers, Shoji Tsuji, Peter De Jonghe, Margaret A. Pericak‐Vance, Lüdger Schöls, Antonio Orlacchio, Evan Reid, Stephan Züchner

    出版 2012
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  16. 16
    Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

    Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study 由 Ines Dierick, Jonathan Baets, Joy Irobi, An Jacobs, Els De Vriendt, Tine Deconinck, Luciano Merlini, Peter Van den Bergh, V. Milić Rašić, Wim Robberecht, Dirk Fischer, Raúl Juntas‐Morales, Zoran D‎. Mitrović, Pavel Seeman, Radim Mazanec, Andrzej Kochański, Albena Jordanova, Michaela Auer‐Grumbach, A.T.J.M. Helderman-van den Enden, J.H.J. Wokke, Eva Nelis, Peter De Jonghe, Vincent Timmerman

    出版 2007
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  17. 17
    Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

    Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia 由 Katia Hardies, Carolien G. F. de Kovel, Sarah Weckhuysen, Bob Asselbergh, Thomas Geuens, Tine Deconinck, Abdelkrim Azmi, Patrick May, Eva H. Brilstra, Felicitas Becker, Nina Barišić, Dana Craiu, Kees P. J. Braun, Dennis Lal, Hölger Thiele, Julian Schubert, Yvonne G. Weber, Ruben van ‘t Slot, Peter Nürnberg, Rudi Balling, Vincent Timmerman, Holger Lerche, Stuart Maudsley, Ingo Helbig, Arvid Suls, Bobby P. C. Koeleman

    出版 2015
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  18. 18
    SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

    SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study 由 Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa, Tine Deconinck, Tobias B. Haack, Stephan Züchner, Michael Gonzalez, Dagmar Timmann, Claudia Stendel, Thomas Klopstock, Alexandra Dürr, Christine Tranchant, Marc Sturm, Wahiba Hamza, Lorenzo Nanetti, Caterina Mariotti, Michel Kœnig, Lüdger Schöls, Rebecca Schüle, Peter De Jonghe, Mathieu Anheim, Franco Taroni, Peter Bauer

    出版 2016
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  19. 19
    Genetic spectrum of hereditary neuropathies with onset in the first year of life

    Genetic spectrum of hereditary neuropathies with onset in the first year of life 由 Jonathan Baets, Tine Deconinck, Els De Vriendt, M. Zimoń, Laetitia Yperzeele, Kim Van Hoorenbeeck, Kristien Peeters, Ronen Spiegel, Yeşim Parman, Berten Ceulemans, Patrick Van Bogaert, A Pou-Serradell, G. Bernert, Argyrios Dinopoulos, Michaela Auer‐Grumbach, Satu‐Leena Sallinen, Gian Maria Fabrizi, F. Pauly, Peter Van den Bergh, Birdal Bilir, Esra Battaloğlu, R. E. Madrid, Dagmara Kabzińska, Andrzej Kochański, Haluk Topaloğlu, G. Miller, Albena Jordanova, Vincent Timmerman, Peter De Jonghe

    出版 2011
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  20. 20
    FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

    FAHN/SPG35: a narrow phenotypic spectrum across disease classifications 由 Tim W. Rattay, Tobias Lindig, Jonathan Baets, Katrien Smets, Tine Deconinck, Anne S. Söhn, Konstanze Hörtnagel, Kathrin N. Eckstein, Sarah Wiethoff, Jennifer Reichbauer, Marion Döbler‐Neumann, Ingeborg Krägeloh‐Mann, Michaela Auer‐Grumbach, Barbara Plecko, Alexander Münchau, Bernd Wilken, Marc Janauschek, Anne‐Katrin Giese, Jan De Bleecker, Els Ortibus, Martine Debyser, Adolfo López de Munaín, Aurora Pujol, Maria Teresa Bassi, Maria Grazia D’Angelo, Peter De Jonghe, Stephan Züchner, Peter Bauer, Lüdger Schöls, Rebecca Schüle

    出版 2019
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