Search Results - Matthis Synofzik

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  1. 1
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    Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1 by Tobias Bonifert, Irene Gonzalez Menendez, Florian Battke, Yvonne Theurer, Matthis Synofzik, Ludger Schöls, Bernd Wissinger

    Published 2016
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  2. 2
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    Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports by Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh

    Published 2019
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  3. 3
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    Item performance of the scale for the assessment and rating of ataxia in rare and ultra‐rare genetic ataxias by Alzahra Hamdan, Andrew C. Hooker, Xiaomei Chen, Andreas Traschütz, Rebecca Schüle, ARCA Study Group, EVIDENCE‐RND consortium, Matthis Synofzik, Mats O. Karlsson

    Published 2024
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  4. 4
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    Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3 by David Mengel, Isabel G. Wellik, Kristen H. Schuster, Sabrina I. Jarrah, Madeleine Wacker, Naila S. Ashraf, Gülin Öz, Matthis Synofzik, Maria do Carmo Costa, Hayley S. McLoughlin

    Published 2023
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