Search Results - Harmuth, Florian

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  1. 1
    Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al.

    Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux... by Park, Joohyun, Deininger, Natalie, Rautenberg, Maren, Saft, Carsten, Harmuth, Florian, Sturm, Marc, Riess, Olaf, Schöls, Ludger, Synofzik, Matthis, Haack, Tobias B.

    Published 2021
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  2. 2
    Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

    Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation by Tüngler, Victoria, Doebler-Neumann, Marion, Salandin, Michaela, Kaufmann, Peter, Wolf, Christine, Lucas, Nadja, Harmuth, Florian, Reichbauer, Jennifer, Krägeloh-Mann, Ingeborg, Schüle, Rebecca, Lee-Kirsch, Min Ae

    Published 2019
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  3. 3
    Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia

    Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia by Park, Joohyun, Reilaender, Annemarie, Petry-Schmelzer, Jan N., Stöbe, Petra, Cordts, Isabell, Harmuth, Florian, Rautenberg, Maren, Woerz, Sarah E., Demidov, German, Sturm, Marc, Ossowski, Stephan, Schwaibold, Eva M.C., Wunderlich, Gilbert, Paus, Sebastian, Saft, Carsten, Haack, Tobias B.

    Published 2021
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  4. 4
    PLA2G6 MUTATIONS ASSOCIATED WITH A CONTINUOUS CLINICAL SPECTRUM FROM NEUROAXONAL DYSTROPHY TO HEREDITARY SPASTIC PARAPLEGIA

    PLA2G6 MUTATIONS ASSOCIATED WITH A CONTINUOUS CLINICAL SPECTRUM FROM NEUROAXONAL DYSTROPHY TO HEREDITARY SPASTIC PARAPLEGIA by Ozes, Burcak, Karagoz, Nazan, Schüle, Rebecca, Rebelo, Adriana, Sobrido, María-Jesús, Harmuth, Florian, Synofzik, Matthis, Pascual, Samuel Ignacio Pascual, Colak, Melek, Ciftci-Kavaklioglu, Beyza, Kara, Batuhan, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Gonzalez, Michael A., Soysal, Aysun, Zuchner, Stephan, Battaloglu, Esra

    Published 2017
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  5. 5
    Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum

    Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum by Mademan, Inès, Harmuth, Florian, Giordano, Ilaria, Timmann, Dagmar, Magri, Stefania, Deconinck, Tine, Claaßen, Jens, Jokisch, Daniel, Genc, Gencer, Di Bella, Daniela, Romito, Silvia, Schüle, Rebecca, Züchner, Stephan, Taroni, Franco, Klockgether, Thomas, Schöls, Ludger, De Jonghe, Peter, Bauer, Peter, Consortium, EOA, Baets, Jonathan, Synofzik, Matthis

    Published 2016
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  6. 6
    A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats

    A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats by Nuber, Silke, Harmuth, Florian, Kohl, Zacharias, Adame, Anthony, Trejo, Margaritha, Schönig, Kai, Zimmermann, Frank, Bauer, Claudia, Casadei, Nicolas, Giel, Christiane, Calaminus, Carsten, Pichler, Bernd J., Jensen, Poul H., Müller, Christian P., Amato, Davide, Kornhuber, Johannes, Teismann, Peter, Yamakado, Hodaka, Takahashi, Ryosuke, Winkler, Juergen, Masliah, Eliezer, Riess, Olaf

    Published 2013
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  7. 7
    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 by Synofzik, Matthis, Helbig, Katherine L., Harmuth, Florian, Deconinck, Tine, Tanpaiboon, Pranoot, Sun, Bo, Guo, Wenting, Wang, Ruiwu, Palmaer, Erika, Tang, Sha, Schaefer, G. Bradley, Gburek-Augustat, Janina, Züchner, Stephan, Krägeloh-Mann, Ingeborg, Baets, Jonathan, de Jonghe, Peter, Bauer, Peter, Chen, S. R. Wayne, Schöls, Ludger, Schüle, Rebecca

    Published 2018
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