Search Results - Synofzik, Matthis

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  1. 1

    Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3 by Elter, Tim (Author) , Sturm, Daniel (Author) , Santana, Magda M. (Author) , Schaprian, Tamara (Author) , Raposo, Mafalda (Author) , Melo, Ana Rosa Vieira (Author) , Lima, Manuela (Author) , Koyak, Berkan (Author) , Oender, Demet (Author) , Grobe-Einsler, Marcus (Author) , Lopes, Sara (Author) , Silva, Patrick (Author) , de Almeida, Luís Pereira (Author) , Giunti, Paola (Author) , Garcia-Moreno, Hector (Author) , Nethisinhe, Suran (Author) , de Vries, Jeroen (Author) , van de Warrenburg, Bart P. (Author) , van Gaalen, Judith (Author) , Synofzik, Matthis (Author) , Schöls, Ludger (Author) , Reetz, Kathrin (Author) , Erdlenbruch, Friedrich (Author) , Jacobi, Heike (Author) , Infante, Jon (Author) , Rieß, Olaf (Author) , Klockgether, Thomas (Author) , Timmann, Dagmar (Author) , Thieme, Andreas (Author) , Faber, Jennifer (Author) , Hübener-Schmid, Jeannette (Author) ,


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  2. 2

    Optimizing selectivity of the Cerebellar Cognitive Affective Syndrome Scale by use of correction formulas, and validation of its German version by Gustafsson Thieme, Andreas Günther (Author) , Rubarth, Kerstin (Author) , van der Veen, Raquel (Author) , Müller, Johanna (Author) , Faber, Jennifer (Author) , Barkhoff, Miriam (Author) , Minnerop, Martina (Author) , Elben, Saskia (Author) , Huvermann, Dana (Author) , Erdlenbruch, Friedrich (Author) , Berlijn, Adam M. (Author) , Sulzer, Patricia (Author) , Reetz, Kathrin (Author) , Dogan, Imis (Author) , Jacobi, Heike (Author) , Aktories, Julia-Elisabeth (Author) , Batsikadze, Giorgi (Author) , Liu, Qi (Author) , Frank, Benedikt (Author) , Köhrmann, Martin (Author) , Wondzinski, Elke (Author) , Siebler, Mario (Author) , Konczak, Jürgen (Author) , Synofzik, Matthis (Author) , Klockgether, Thomas (Author) , Konietschke, Frank (Author) , Röske, Sandra (Author) , Timmann, Dagmar (Author) ,


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  3. 3

    Stage-dependent biomarker changes in spinocerebellar ataxia type 3 by Faber, Jennifer (Author) , Berger, Moritz (Author) , Wilke, Carlo (Author) , Hubener-Schmid, Jeannette (Author) , Schaprian, Tamara (Author) , Santana, Magda M. (Author) , Grobe-Einsler, Marcus (Author) , Onder, Demet (Author) , Koyak, Berkan (Author) , Giunti, Paola (Author) , Garcia-Moreno, Hector (Author) , Gonzalez-Robles, Cristina (Author) , Lima, Manuela (Author) , Raposo, Mafalda (Author) , Melo, Ana Rosa Vieira (Author) , de Almeida, Luis Pereira (Author) , Silva, Patrick (Author) , Pinto, Maria M. (Author) , van de Warrenburg, Bart P. (Author) , van Gaalen, Judith (Author) , de Vries, Jeroen (Author) , Oz, Gulin (Author) , Joers, James M. (Author) , Synofzik, Matthis (Author) , Schols, Ludger (Author) , Riess, Olaf (Author) , Infante, Jon (Author) , Manrique, Leire (Author) , Timmann, Dagmar (Author) , Thieme, Andreas (Author) , Jacobi, Heike (Author) , Reetz, Kathrin (Author) , Dogan, Imis (Author) , Onyike, Chiadikaobi (Author) , Povazan, Michal (Author) , Schmahmann, Jeremy (Author) , Ratai, Eva-Maria (Author) , Schmid, Matthias (Author) , Klockgether, Thomas (Author) ,


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  4. 4

    An iPSC model for POLR3A-associated spastic ataxia: generation of three unrelated patient cell lines by Manibarathi, Kalaivani (Author) , Pham, Tam (Author) , Hengel, Holger (Author) , Synofzik, Matthis (Author) , Nagel, Maike (Author) , Schüle-Freyer, Rebecca (Author) ,


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  5. 5

    An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study by Scaravilli, Alessandra (Author) , Gabusi, Ilaria (Author) , Mari, Gaia (Author) , Battocchio, Matteo (Author) , Bosticardo, Sara (Author) , Schiavi, Simona (Author) , Bender, Benjamin (Author) , Kessler, Christoph (Author) , Brais, Bernard (Author) , La Piana, Roberta (Author) , van de Warrenburg, Bart P. (Author) , Cosottini, Mirco (Author) , Timmann, Dagmar (Author) , Daducci, Alessandro (Author) , Schüle-Freyer, Rebecca (Author) , Synofzik, Matthis (Author) , Santorelli, Filippo Maria (Author) , Cocozza, Sirio (Author) ,


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  6. 6

    Digital gait outcomes for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): discriminative, convergent, and ecological validity in a multicenter study (PROSPAX) by Beichert, Lukas David (Author) , Ilg, Winfried (Author) , Kessler, Christoph (Author) , Traschütz, Andreas (Author) , Reich, Selina (Author) , Santorelli, Filippo M. (Author) , Başak, Ayşe Nazli (Author) , Gagnon, Cynthia (Author) , Schüle-Freyer, Rebecca (Author) , Synofzik, Matthis (Author) ,


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  7. 7

    MRI-ARSACS: an imaging index for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) identification based on the multicenter PROSPAX study by Scaravilli, Alessandra (Author) , Negroni, Davide (Author) , Senatore, Claudio (Author) , Ugga, Lorenzo (Author) , Cosottini, Mirco (Author) , Ricca, Ivana (Author) , Bender, Benjamin (Author) , Traschütz, Andreas (Author) , Başak, Ayşe Nazli (Author) , Vural, Atay (Author) , van de Warrenburg, Bart P. (Author) , Durr, Alexandra (Author) , La Piana, Roberta (Author) , Timmann, Dagmar (Author) , Consortium, Prospax (Author) , Schüle-Freyer, Rebecca (Author) , Synofzik, Matthis (Author) , Santorelli, Filippo Maria (Author) , Cocozza, Sirio (Author) ,


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  8. 8

    Advancing ASO therapies from development to implementation by Schüle-Freyer, Rebecca (Author) , Synofzik, Matthis (Author) , Graessner, Holm (Author) , Aartsma-Rus, Annemieke (Author) ,


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  9. 9

    Sacsin levels in PBMCs: a diagnostic assay for SACS variants in peripheral blood cells : a PROSPAX study by Tunca, Ceren (Author) , İşlek Camadan, Eylül Ece (Author) , Smolina, Natalia (Author) , Palvadeau, Robin J. (Author) , Öztop Çakmak, Özgür (Author) , Vural, Atay (Author) , Traschütz, Andreas (Author) , Santorelli, Filippo M. (Author) , Brais, Bernard (Author) , Schüle-Freyer, Rebecca (Author) , Synofzik, Matthis (Author) , Başak, A. Nazlı (Author) ,


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  10. 10

    Longitudinal analysis of natural history progression of rare and ultra-rare cerebellar ataxias using item response theory by Hamdan, Alzahra (Author) , Hendrickx, Niels (Author) , Hooker, Andrew C. (Author) , Chen, Xiaomei (Author) , Comets, Emmanuelle (Author) , Traschütz, Andreas (Author) , Schüle-Freyer, Rebecca (Author) , Mentré, France (Author) , Synofzik, Matthis (Author) , Karlsson, Mats O. (Author) ,


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  11. 11

    The GENESIS database and tools: A decade of discovery in Mendelian genomics by Danzi, Matt (Author) , Powell, Eric (Author) , Rebelo, Adriana P. (Author) , Dohrn, Maike F. (Author) , Beijer, Danique (Author) , Fazal, Sarah (Author) , Xu, Isaac R. L. (Author) , Medina, Jessica (Author) , Chen, Sitong (Author) , Arcia de Jesus, Yeisha (Author) , Schatzman, Jacquelyn (Author) , Hershberger, Ray E. (Author) , Saporta, Mario (Author) , Baets, Jonathan (Author) , Falk, Marni (Author) , Herrmann, David N. (Author) , Scherer, Steven S. (Author) , Reilly, Mary M. (Author) , Cortese, Andrea (Author) , Marques, Wilson (Author) , Cornejo-Olivas, Mario R. (Author) , Sanmaneechai, Oranee (Author) , Kennerson, Marina L. (Author) , Jordanova, Albena (Author) , Silva, Thiago Y. T. (Author) , Pedroso, Jose Luiz (Author) , Schierbaum, Luca (Author) , Ebrahimi-Fakhari, Darius (Author) , Peric, Stojan (Author) , Lee, Yi-Chung (Author) , Synofzik, Matthis (Author) , Tekin, Mustafa (Author) , Ravenscroft, Gianina (Author) , Shy, Mike (Author) , Basak, Nazli (Author) , Schüle-Freyer, Rebecca (Author) , Zuchner, Stephan (Author) ,


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  12. 12

    Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations by Aartsma-Rus, Annemieke (Author) , Roon-Mom, Willeke van (Author) , Lauffer, Marlen (Author) , Siezen, Christine (Author) , Duijndam, Britt (Author) , Roo, Tineke Coenen-de (Author) , Schüle-Freyer, Rebecca (Author) , Synofzik, Matthis (Author) , Graessner, Holm (Author) ,


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  13. 13

    Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors by Hengel, Holger (Author) , Martus, Peter (Author) , Faber, Jennifer (Author) , Giunti, Paola (Author) , Garcia-Moreno, Hector (Author) , Solanky, Nita (Author) , Klockgether, Thomas (Author) , Reetz, Kathrin (Author) , van de Warrenburg, Bart P. (Author) , Santana, Magda M. (Author) , Silva, Patrick (Author) , Cunha, Inês (Author) , de Almeida, Luís Pereira (Author) , Timmann-Braun, Dagmar (Author) , Infante, Jon (Author) , de Vries, Jeroen (Author) , Lima, Manuela (Author) , Pires, Paula (Author) , Bushara, Khalaf (Author) , Jacobi, Heike (Author) , Onyike, Chiadi (Author) , Schmahmann, Jeremy D. (Author) , Hübener-Schmid, Jeannette (Author) , Synofzik, Matthis (Author) , Schöls, Ludger (Author) ,


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  14. 14

    Levels of neurofilament light at the preataxic and ataxic stages of spinocerebellar ataxia type 1 by Wilke, Carlo (Author) , Mengel, David (Author) , Schöls, Ludger (Author) , Hengel, Holger (Author) , Rakowicz, Maria (Author) , Klockgether, Thomas (Author) , Durr, Alexandra (Author) , Filla, Alessandro (Author) , Melegh, Bela (Author) , Schüle-Freyer, Rebecca (Author) , Reetz, Kathrin (Author) , Jacobi, Heike (Author) , Synofzik, Matthis (Author) ,


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  15. 15

    Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy by Park, Joohyun (Author) , Tucci, Arianna (Author) , Cipriani, Valentina (Author) , Demidov, German (Author) , Rocca, Clarissa (Author) , Senderek, Jan (Author) , Butryn, Michaela (Author) , Velic, Ana (Author) , Lam, Tanya (Author) , Galanaki, Evangelia (Author) , Cali, Elisa (Author) , Vestito, Letizia (Author) , Maroofian, Reza (Author) , Deininger, Natalie (Author) , Rautenberg, Maren (Author) , Admard, Jakob (Author) , Hahn, Gesa-Astrid (Author) , Bartels, Claudius (Author) , Os, Nienke J. H. van (Author) , Horvath, Rita (Author) , Chinnery, Patrick F. (Author) , Tiet, May Yung (Author) , Hewamadduma, Channa (Author) , Hadjivassiliou, Marios (Author) , Tofaris, George K. (Author) , Wood, Nicholas (Author) , Hayer, Stefanie Nicole (Author) , Bender, Friedemann (Author) , Menden, Benita (Author) , Cordts, Isabell (Author) , Klein, Katrin (Author) , Nguyen, Huu Phuc (Author) , Krauss, Joachim K. (Author) , Blahak, Christian (Author) , Strom, Tim M. (Author) , Sturm, Marc (Author) , Warrenburg, Bart Petrus Christoffel van de (Author) , Lerche, Holger (Author) , Maček, Boris (Author) , Synofzik, Matthis (Author) , Ossowski, Stephan (Author) , Timmann-Braun, Dagmar (Author) , Wolf, Marc (Author) , Smedley, Damian (Author) , Rieß, Olaf (Author) , Schöls, Ludger (Author) , Houlden, Henry (Author) , Haack, Tobias (Author) , Hengel, Holger (Author) ,


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  16. 16

    Differential temporal dynamics of axial and appendicular ataxia in SCA3 by Maas, Roderick (Author) , Teerenstra, Steven (Author) , Lima, Manuela (Author) , Pires, Paula (Author) , Pereira de Almeida, Luís (Author) , Gaalen, Judith van (Author) , Timmann, Dagmar (Author) , Infante, Jon (Author) , Onyike, Chiadi (Author) , Bushara, Khalaf (Author) , Jacobi, Heike (Author) , Reetz, Kathrin (Author) , Santana, Magda M. (Author) , Afonso Ribeiro, Joana (Author) , Hübener-Schmid, Jeannette (Author) , Vries, Jeroen J. de (Author) , Synofzik, Matthis (Author) , Schöls, Ludger (Author) , Garcia-Moreno, Hector (Author) , Giunti, Paola (Author) , Faber, Jennifer (Author) , Klockgether, Thomas (Author) , Warrenburg, Bart P. C. van de (Author) ,


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  17. 17

    Utility of the repeat and point test for subtyping patients with primary progressive aphasia by Seckin, Mustafa (Author) , Ricard, Ingrid (Author) , Raiser, Theresa (Author) , Heitkamp, Nari (Author) , Ebert, Anne (Author) , Prix, Catharina (Author) , Levin, Johannes (Author) , Diehl-Schmid, Janine (Author) , Riedl, Lina (Author) , Roßmeier, Carola (Author) , Hoen, Nora (Author) , Schroeter, Matthias L. (Author) , Marschhauser, Anke (Author) , Obrig, Hellmuth (Author) , Benke, Thomas (Author) , Kornhuber, Johannes (Author) , Fliessbach, Klaus (Author) , Schneider, Anja (Author) , Wiltfang, Jens (Author) , Jahn, Holger (Author) , Fassbender, Klaus (Author) , Prudlo, Johannes (Author) , Lauer, Martin (Author) , Duning, Thomas (Author) , Wilke, Carlo (Author) , Synofzik, Matthis (Author) , Anderl-Straub, Sarah (Author) , Semler, Elisa (Author) , Lombardi, Jolina (Author) , Landwehrmeyer, Bernard (Author) , Ludolph, Albert (Author) , Otto, Markus (Author) , Danek, Adrian (Author) ,


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  18. 18

    The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors by Hengel, Holger (Author) , Martus, Peter (Author) , Faber, Jennifer (Author) , Giunti, Paola (Author) , Garcia-Moreno, Hector (Author) , Solanky, Nita (Author) , Klockgether, Thomas (Author) , Reetz, Kathrin (Author) , van de Warrenburg, Bart P. (Author) , Santana, Magda M. (Author) , Silva, Patrick (Author) , Cunha, Inês (Author) , de Almeida, Luís Pereira (Author) , Timmann-Braun, Dagmar (Author) , Infante, Jon (Author) , de Vries, Jeroen (Author) , Lima, Manuela (Author) , Pires, Paula (Author) , Bushara, Khalaf (Author) , Jacobi, Heike (Author) , Onyike, Chiadi (Author) , Schmahmann, Jeremy D. (Author) , Hübener-Schmid, Jeannette (Author) , Synofzik, Matthis (Author) , Schöls, Ludger (Author) ,


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  19. 19

    Invasive brain stimulation in the treatment of psychiatric illness: proposed indications and approaches = Invasive Hirnstimulation zur Behandlung von psychiatrischen Erkrankungen :... by Schläpfer, Thomas (Author) , Meyer-Lindenberg, Andreas (Author) , Synofzik, Matthis (Author) , Visser-Vandewalle, Veerle (Author) , Voges, Jürgen (Author) , Coenen, Volker Arnd (Author) ,


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  20. 20

    The ARCA Registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias by Traschütz, Andreas (Author) , Reich, Selina (Author) , Adarmes, Astrid D. (Author) , Anheim, Mathieu (Author) , Ashrafi, Mahmoud Reza (Author) , Baets, Jonathan (Author) , Basak, A. Nazli (Author) , Bertini, Enrico (Author) , Brais, Bernard (Author) , Gagnon, Cynthia (Author) , Gburek-Augustat, Janina (Author) , Hanagasi, Hasmet A. (Author) , Heinzmann, Anna Constanze (Author) , Horvath, Rita (Author) , Jonghe, Peter de (Author) , Kamm, Christoph (Author) , Klivenyi, Peter (Author) , Klopstock, Thomas (Author) , Minnerop, Martina (Author) , Münchau, Alexander (Author) , Renaud, Mathilde (Author) , Roxburgh, Richard H. (Author) , Santorelli, Filippo M. (Author) , Schirinzi, Tommaso (Author) , Sival, Deborah A. (Author) , Timmann-Braun, Dagmar (Author) , Vielhaber, Stefan (Author) , Wallner, Michael (Author) , Warrenburg, Bart Petrus Christoffel van de (Author) , Zanni, Ginevra (Author) , Züchner, Stephan (Author) , Klockgether, Thomas (Author) , Schüle-Freyer, Rebecca (Author) , Schöls, Ludger (Author) , Synofzik, Matthis (Author) ,


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