תוצאות חיפוש - Susanne T. de Bot

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  1. 1
    Hereditary spastic paraplegia caused by a mutation in the VCP gene

    Hereditary spastic paraplegia caused by a mutation in the VCP gene מאת Susanne T. de Bot, H. Jurgen Schelhaas, Erik‐Jan Kamsteeg, Bart P.C. van de Warrenburg

    יצא לאור 2012
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    Carta
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  2. 2
    Juvenile‐Onset Huntington Disease Pathophysiology and Neurodevelopment: A Review

    Juvenile‐Onset Huntington Disease Pathophysiology and Neurodevelopment: A Review מאת Hannah S. Bakels, Raymund A.C. Roos, Willeke M. C. van Roon‐Mom, Susanne T. de Bot

    יצא לאור 2021
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    Revisão
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  3. 3
    Child Neurology: Hereditary spastic paraplegia in children

    Child Neurology: Hereditary spastic paraplegia in children מאת Susanne T. de Bot, Bart P.C. van de Warrenburg, H.P.H. Kremer, Michèl A.A.P. Willemsen

    יצא לאור 2010
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    Revisão
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  4. 4
    Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

    Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders מאת Bart P.C. van de Warrenburg, Meyke Schouten, Susanne T. de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl AAP Willemsen, Hans Scheffer, Erik‐Jan Kamsteeg

    יצא לאור 2016
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    Artigo
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  5. 5
    StartReact Restores Reaction Time in HSP: Evidence for Subcortical Release of a Motor Program

    StartReact Restores Reaction Time in HSP: Evidence for Subcortical Release of a Motor Program מאת Jorik Nonnekes, Lars B. Oude Nijhuis, Mark de Niet, Susanne T. de Bot, Jacobus W. Pasman, Bart P.C. van de Warrenburg, Bastiaan R. Bloem, Vivian Weerdesteyn, Alexander C. H. Geurts

    יצא לאור 2013
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    Artigo
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  6. 6
    Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

    Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations מאת Susanne T. de Bot, R. T. M. van den Elzen, Arjen R. Mensenkamp, Helenius J. Schelhaas, Michèl A.A.P. Willemsen, Nine V.A.M. Knoers, H.P.H. Kremer, Bart P.C. van de Warrenburg, Hans Scheffer

    יצא לאור 2010
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    Artigo
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  7. 7
    Quality of life, health-related quality of life, and associated factors in Huntington’s disease: a systematic review

    Quality of life, health-related quality of life, and associated factors in Huntington’s disease: a systematic review מאת Pearl J. C. van Lonkhuizen, Wiebke Frank, Anne‐Wil Heemskerk, Erik van Duijn, Susanne T. de Bot, Alžbeta Mühlbäck, G. Bernhard Landwehrmeyer, Niels H. Chavannes, Eline Meijer, Niels H. Chavannes, Susanne T. de Bot, Pearl J. C. van Lonkhuizen, G. Bernhard Landwehrmeyer, Franziska Steck, Jiří Klempíř, Romama Konvalinková, Eva Bezuchová, Kristýna Dolečková, Olga Klempířová, Jan Roth, Olga Ulmanová, Ferdinando Squitieri, Sabrina Maffi, Eugenia Scaricamazza, Simone Migliore, Chiara Di Giorgio, Barbara D’Alessio, Melissa Casella, Jennifer Hoblyn, Muthukumaran Thangaramanujam, Tom Burke, Emer O’Malley, Stephen P. McKenna, Ian McKenna, Jeanette Thorpe, Anna Coffey, Ramona Moldovan, Peter Foley, Jacqueline Kerr

    יצא לאור 2023
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    Revisão
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  8. 8
    Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

    Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort מאת Koen L.I. van Gassen, Charlotte D.C.C. van der Heijden, Susanne T. de Bot, Wilfred F.A. den Dunnen, Leonard H. van den Berg, Corien C. Verschuuren‐Bemelmans, H.P.H. Kremer, Jan H. Veldink, Erik‐Jan Kamsteeg, Hans Scheffer, Bart P. van de Warrenburg

    יצא לאור 2012
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    Artigo
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  9. 9
    “Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

    “Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia מאת Belén Pascual, Susanne T. de Bot, Michlene Daniels, Marcondes C. França, Camilo Toro, Mario Riverol, Peter Hedera, Maria Teresa Bassi, Nereo Bresolin, Bart P.C. van de Warrenburg, B. Kremer, Joost Nicolai, Perrine Charles, Jiaqiong Xu, SanjeetKumar Singh, Nicholas J. Patronas, Steve H. Fung, Michael D. Gregory, Joseph C. Masdeu

    יצא לאור 2019
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    Artigo
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  10. 10
    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia מאת Maartje Pennings, Meyke Schouten, Judith van Gaalen, Rowdy Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck‐Zwarts, Christine de Die‐Smulders, Eva H. Brilstra, Corien Verschuuren, Bert B.A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A.M. Duijkers, Bregje Jaeger, Jolanda Schieving, Bart P.C. van de Warrenburg, Erik-Jan Kamsteeg

    יצא לאור 2019
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    Artigo
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  11. 11
    Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

    Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia מאת Janneke Schuurs-Hoeijmakers, Michael T. Geraghty, Erik‐Jan Kamsteeg, Salma Ben‐Salem, Susanne T. de Bot, Bonnie Nijhof, Ilse I.G.M. van de Vondervoort, Marinette van der Graaf, Anna Castells‐Nobau, Irene Otte‐Höller, Sascha Vermeer, Amanda Smith, Peter Humphreys, Jeremy Schwartzentruber, Bassam R. Ali, Saeed Al‐Yahyaee, Said Tariq, Thachillath Pramathan, Riad Bayoumi, H.P.H. Kremer, Bart P. van de Warrenburg, Willem M.R. van den Akker, Christian Gilissen, Joris A. Veltman, Irene M. Janssen, Anneke T. Vulto-van Silfhout, Saskia van der Velde-Visser, Dirk Lefeber, Adinda Diekstra, Corrie E. Erasmus, Michèl A.A.P. Willemsen, Lisenka E.L.M. Vissers, Martin Lammens, Hans van Bokhoven, Han G. Brunner, Ron A. Wevers, Annette Schenck, Lihadh Al‐Gazali, Bert B.A. de Vries, Arjan P.M. de Brouwer

    יצא לאור 2012
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    Artigo
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  12. 12
    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias מאת Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, Judith Van Gaalen, Joana Damásio, Zofia Fleszar, Michele Tosi, Clarissa Rocca, Giovanna De Michele, Martina Minnerop, Claire Ewenczyk, Filippo M. Santorelli, Anna Heinzmann, Thomas D. Bird, Matthias Amprosi, Elisabetta Indelicato, Alberto Benussi, Perrine Charles, Claudia Stendel, Silvia Romano, Marina Scarlato, Isabelle Le Ber, Maria Teresa Bassi, Mercedes Serrano, Tanja Schmitz‐Hübsch, Sarah Doss, Gijs A.J. Van Velzen, Quentin Thomas, Antonio Trabacca, Juan Darío Ortigoza‐Escobar, Stefano D’Arrigo, Dagmar Timmann, Chiara Pantaleoni, Andrea Martinuzzi, Elsa Besse-Pinot, Luca Marsili, Ettore Cioffi, Francesco Nicita, Alejandro Giorgetti, Isabella Moroni, Romina Romaniello, Carlo Casali, Penina Ponger, Giorgio Casari, Susanne T. de Bot, Giovanni Ristori, Lubov Blumkin, Barbara Borroni, Cyril Goizet, Cécilia Marelli, Sylvia Boesch, Mathieu Anheim, Alessandro Filla, Henry Houlden, Enrico Bertini, Thomas Klopstock, Matthis Synofzik, Florence Riant, Ginevra Zanni, Stefania Magri, Daniela Di Bella, Lorenzo Nanetti, Jorge Sequeiros, Jorge Oliveira, Bart van de Warrenburg, Lüdger Schöls, Franco Taroni, Alexis Brice, Alexandra Dürr

    יצא לאור 2023
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    Artigo
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