Výsledky vyhledávání - Harmuth, Florian

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

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Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation Autor 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

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Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia Autor 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.

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PLA2G6 MUTATIONS ASSOCIATED WITH A CONTINUOUS CLINICAL SPECTRUM FROM NEUROAXONAL DYSTROPHY TO HEREDITARY SPASTIC PARAPLEGIA Autor 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

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Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum Autor 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

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A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats Autor 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

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De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function Autor 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

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