Výsledky vyhledávání - Franco Laccone

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  1. 1
    Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

    Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions Autor Franco Laccone, Peter Huppke, F. Hanefeld, Moritz Meins

    Vydáno 2001
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  2. 2
    Optical Genome Mapping in Routine Human Genetic Diagnostics—Its Advantages and Limitations

    Optical Genome Mapping in Routine Human Genetic Diagnostics—Its Advantages and Limitations Autor Paul Dremsek, Thomas Schwarz, Beatrix Weil, Alina Malashka, Franco Laccone, Jürgen Neesen

    Vydáno 2021
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  3. 3
    MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin

    MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin Autor Ralf Ulrich Trappe, Franco Laccone, Joana Cobilanschi, Moritz Meins, Peter Huppke, F. Hanefeld, Wolfgang Engel

    Vydáno 2001
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  4. 4
    Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

    Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome Autor Franco Laccone, Ivonne Jünemann, Sharon D. Whatley, Rhian Morgan, Rachel Butler, Peter Huppke, David Ravine

    Vydáno 2004
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  5. 5
    Autosomal dominant cerebellar ataxia type I Clinical features and MRI in families with SCA1, SCA2 and SCA3

    Autosomal dominant cerebellar ataxia type I Clinical features and MRI in families with SCA1, SCA2 and SCA3 Autor Katrin Bürk, Michael Abele, M. Fetter, J. Dichgans, Martin Skalej, Franco Laccone, Olivier Didierjean, Alexis Brice, Thomas Klockgether

    Vydáno 1996
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  6. 6
    Efficacy and safety of Everolimus in children with TSC - associated epilepsy – Pilot data from an open single-center prospective study

    Efficacy and safety of Everolimus in children with TSC - associated epilepsy – Pilot data from an open single-center prospective study Autor Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Gröppel, Angelika Mühlebner, Theresa O. Scholl, Gregor Kasprian, Franco Laccone, Martha Feucht

    Vydáno 2016
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  7. 7
    An Isoform of Ataxin‐3 Accumulates in the Nucleus of Neuronal Cells in Affected Brain Regions of SCA3 Patients

    An Isoform of Ataxin‐3 Accumulates in the Nucleus of Neuronal Cells in Affected Brain Regions of SCA3 Patients Autor Thorsten Schmidt, G. Bernhard Landwehrmeyer, Ina Schmitt, Yvon Trottier, Georg Auburger, Franco Laccone, Thomas Klockgether, Michael Völpel, Jörg T. Epplen, Lüdger Schöls, Olaf Rieß

    Vydáno 1998
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  8. 8
    Nuclear Localization of Ataxin-3 Is Required for the Manifestation of Symptoms in SCA3:<i>In Vivo</i>Evidence

    Nuclear Localization of Ataxin-3 Is Required for the Manifestation of Symptoms in SCA3:<i>In Vivo</i>Evidence Autor Ulrike Bichelmeier, Thorsten Schmidt, Jeannette Hübener‐Schmid, Jana Boy, Lukas Rüttiger, Karina Häbig, Sven Poths, Michael Bonin, Marlies Knipper, Werner Schmidt, Johannes Wilbertz, Hartwig Wolburg, Franco Laccone, Olaf Rieß

    Vydáno 2007
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  9. 9
    The natural history of degenerative ataxia: a retrospective study in 466 patients

    The natural history of degenerative ataxia: a retrospective study in 466 patients Autor Thomas Klockgether, Rainer Lüdtke, B. Krämer, Michael Abele, Katrin Bürk, Lüdger Schöls, Olaf Rieß, Franco Laccone, Sylvia Boesch, Íscia Lopes‐Cendes, Alexis Brice, Rivka Inzelberg, Nelly Zilber, J. Dichgans

    Vydáno 1998
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  10. 10
    Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

    Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome Autor Isabella Borg, Kristine Freude, Sabine Kübart, Kirsten Hoffmann, Corinna Menzel, Franco Laccone, Helen V. Firth, M.A. Ferguson‐Smith, Niels Tommerup, Hans‐Hilger Ropers, David R. Sargan, Vera M. Kalscheuer

    Vydáno 2005
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  11. 11
    Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

    Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia Autor Michael Zech, Sylvia Boesch, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Franco Laccone, Veronika Pilshofer, Andrés Ceballos-Baumann, Bader Alhaddad, Riccardo Berutti, Werner Poewe, Tobias B. Haack, Bernhard Haslinger, Tim M. Strom, Juliane Winkelmann

    Vydáno 2016
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  12. 12
    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome Autor Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders, Natalie Hauser, Rebecca L. Belmonte, G. R. Wilson, Daniëlle G.M. Bosch, Paula A. Bubulya, Vandana Shashi, Slavé Petrovski, Joshua K. Stone, Eun Young Park, Joris A. Veltman, Margje Sinnema, Connie T. R. M. Stumpel, Jos Draaisma, Joost Nicolai, Helger G. Yntema, Kristin Lindstrom, Bert B.A. de Vries, Tamison Jewett, Stephanie L. Santoro, Julie Vogt, Kristine Bachman, Andrea Seeley, Alyson Krokosky, Clesson Turner, Luis Rohena, Maja Hempel, Fanny Kortüm, Davor Lessel, Axel Neu, Tim M. Strom, Dagmar Wieczorek, Nuria C. Bramswig, Franco Laccone, Jana Behunova, Helga Rehder, Christopher T. Gordon, Marlène Rio, Serge Romana, Sha Tang, Dima El‐Khechen, Megan T. Cho, Kirsty McWalter, Ganka Douglas, Berivan Baskin, Amber Begtrup, Tara Funari, Kelly Schoch, Alexander P.A. Stegmann, Servi J.C. Stevens, Dong‐Er Zhang, David Traver, Xu Yao, Daniel G. MacArthur, Han G. Brunner, Grazia M.S. Mancini, R Myers, Laurie B. Owen, Ssang‐Taek Lim, David L. Stachura, Lisenka E.L.M. Vissers, E. Ahn

    Vydáno 2016
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  13. 13
    Monogenic variants in dystonia: an exome-wide sequencing study

    Monogenic variants in dystonia: an exome-wide sequencing study Autor Michael Zech, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer, Katharina Vill, Felix Distelmaier, Malgorzata Stoklosa, Martin Krenn, Stephan Grunwald, Tobias Bock-Bierbaum, Anna Fečíková, Petra Havránková, Jan Roth, Iva Příhodová, Miriam Adamovičová, Olga Ulmanová, Karel Bechyně, Pavlína Danhofer, Branislav Veselý, Vladimír Haň, Petra Pavelekova, Zuzana Gdovinová, Tobias Mantel, Tobias Meindl, Alexandra Sitzberger, Sebastian Schröder, Astrid Blaschek, Timo Roser, Michaela Bonfert, Edda Haberlandt, Barbara Plecko, Birgit Leineweber, Steffen Berweck, T. Herberhold, Berthold Langguth, Jana Švantnerová, Michal Minár, Gonzalo Alonso Ramos-Rivera, Monica H. Wojcik, Sander Pajusalu, Katrin Õunap, Ulrich A. Schatz, Laura Pölsler, Ivan Milenković, Franco Laccone, Veronika Pilshofer, Roberto Colombo, Steffi Patzer, Arcangela Iuso, Julia Vera, M. Troncoso, Fang Fang, Holger Prokisch, Friederike Wilbert, Matthias Eckenweiler, Elisabeth Graf, Dominik S. Westphal, Korbinian M. Riedhammer, Theresa Brunet, Bader Alhaddad, Riccardo Berutti, Tim M. Strom, Martin Hecht, Matthias Baumann, Marc E. Wolf, Aida Telegrafi, Richard Person, Francisca Millan Zamora, Lindsay B. Henderson, David Weise, Thomas Musacchio, Jens Volkmann, Anna Szuto, Jessica Becker, Kirsten Cremer, Thomas Sycha, Fritz Zimprich, Verena Kraus, Christine Makowski, Pedro Gonzalez‐Alegre, Tanya Bardakjian, Laurie J. Ozelius, Annalisa Vetro, Renzo Guerrini, Esther M. Maier, Ingo Borggraefe, Alice Kuster, Saskia B. Wortmann, Annette Hackenberg, Robert Steinfeld, Birgit Assmann, Christian Staufner, Thomas Opladen, Evžen Růžička

    Vydáno 2020
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