检索结果 - Harmuth, Florian

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