檢索結果 - Peter De Jonghe

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  1. 1
    Molecular genetics of Dravet syndrome

    Molecular genetics of Dravet syndrome 由 Peter De Jonghe

    出版 2011
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  2. 2
    Treatment for Charcot-Marie-Tooth disease

    Treatment for Charcot-Marie-Tooth disease 由 Peter Young, Peter De Jonghe, Florian Stögbauer, Trude Butterfaß‐Bahloul

    出版 2008
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  3. 3
    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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  4. 4
    De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

    De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy 由 Lieve Claes, Jurgen Del‐Favero, Berten Ceulemans, Lieven Lagae, Christine Van Broeckhoven, Peter De Jonghe

    出版 2001
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  5. 5
    Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients

    Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients 由 Lawrence T. Reiter, Philip J. Hastings, Eva Nelis, Peter De Jonghe, Christine Van Broeckhoven, James R. Lupski

    出版 1998
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  6. 6
    Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation

    Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation 由 Nina Barišić, Kristl G. Claeys, Maja Sirotković-Skerlev, A. Löfgren, Eva Nelis, Peter De Jonghe, Vincent Timmerman

    出版 2008
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  7. 7
    Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

    Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. 由 Peter Raeymaekers, Vincent Timmerman, Eva Nelis, Wim Van Hul, Peter De Jonghe, Jean‐Jacques Martin, Christine Van Broeckhoven

    出版 1992
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  8. 8
    Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2

    Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2 由 Jennifer A. Kearney, Yan Yang, Barbara Beyer, Sarah K. Bergren, Lieve Claes, Peter DeJonghe, Wayne N. Frankel

    出版 2006
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  9. 9
    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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  10. 10
    novoSNP, a novel computational tool for sequence variation discovery

    novoSNP, a novel computational tool for sequence variation discovery 由 Stefan Weckx, Jurgen Del‐Favero, Rosa Rademakers, Lieve Claes, Marc Cruts, Peter De Jonghe, Christine Van Broeckhoven, Peter De Rijk

    出版 2005
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  11. 11
    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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  12. 12
    The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype

    The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype 由 Peter De Jonghe, Vincent Timmerman, C. Ceuterick, Eva Nelis, Els De Vriendt, A. Löfgren, Anina Vercruyssen, Christine Verellen, Lionel Van Maldergem, J. J. Martin, Christine Van Broeckhoven

    出版 1999
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  13. 13
    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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  14. 14
    Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10

    Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10 由 Kristien Verhoeven, Peter De Jonghe, Tom Van de Putte, Eva Nelis, An Zwijsen, Nathalie Verpoorten, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Annick Francis, C. Ceuterick, Danny Huylebroeck, Vincent Timmerman

    出版 2003
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  15. 15
    <i>SCN1A</i> testing for epilepsy: Application in clinical practice

    <i>SCN1A</i> testing for epilepsy: Application in clinical practice 由 Shinichi Hirose, Ingrid E. Scheffer, Carla Marini, Peter De Jonghe, Eva Andermann, Alica M. Goldman, Marcelo Kauffman, Nigel CK Tan, Daniel H. Lowenstein, Sanjay M. Sisodiya, Ruth Ottman, Samuel F. Berkovic

    出版 2013
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  16. 16
    Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

    Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy 由 Saul A. Mullen, Carla Marini, Arvid Suls, Davide Mei, Elvio Della Giustina, Daniela Buti, Todor Arsov, John A. Damiano, Kate Lawrence, Peter De Jonghe, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini

    出版 2011
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  17. 17
    Mutant HSPB8 causes motor neuron-specific neurite degeneration

    Mutant HSPB8 causes motor neuron-specific neurite degeneration 由 Joy Irobi, Leonardo Almeida‐Souza, Bob Asselbergh, Vicky De Winter, Sofie Goethals, Ines Dierick, Jyothsna Krishnan, Jean‐Pierre Timmermans, Wim Robberecht, Peter De Jonghe, Ludo Van Den Bosch, Sophie Janssens, Vincent Timmerman

    出版 2010
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  18. 18
    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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  19. 19
    A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

    A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome 由 Nanda A. Singh, Chris Pappas, E. Jill Dahle, Lieve Claes, Timothy H. Pruess, Peter De Jonghe, Joel A. Thompson, Missy Dixon, Christina A. Gurnett, Andy Peiffer, H. Steve White, Francis Filloux, Mark Leppert

    出版 2009
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  20. 20
    Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

    Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy 由 Kristien Verhoeven, Peter De Jonghe, Katrien Coen, Nathalie Verpoorten, Michaela Auer‐Grumbach, Jennifer M. Kwon, David Fitzpatrick, Eric Schmedding, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Klaus Wagner, Hans‐Peter Hartung, Vincent Timmerman

    出版 2003
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