Search Results - Synofzik, Matthis

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  1. 1
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    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
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    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
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    An investigation of corticospinal tract microstructural integrity in ARSACS using a profilometry MRI analysis: results from the PROSPAX study by Scaravilli, Alessandra (Author) , Mari, Gaia (Author) , Gabusi, Ilaria (Author) , Battocchio, Matteo (Author) , Bosticardo, Sara (Author) , Schiavi, Simona (Author) , Bender, Benjamin (Author) , Kessler, Christoph (Author) , La Piana, Roberta (Author) , van de Warrenburg, Bart P. (Author) , Cosottini, Mirco (Author) , Timmann, Dagmar (Author) , Consortium, Prospax (Author) , Daducci, Alessandro (Author) , Schüle-Freyer, Rebecca (Author) , Synofzik, Matthis (Author) , Santorelli, Filippo Maria (Author) , Cocozza, Sirio (Author) ,


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  4. 4
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    Integrated modeling of digital-motor and clinician-reported outcomes using item response theory: towards powerful trials for rare neurological diseases by Hamdan, Alzahra (Author) , Traschütz, Andreas (Author) , Beichert, Lukas (Author) , Chen, Xiaomei (Author) , Gagnon, Cynthia (Author) , van de Warrenburg, Bart P. (Author) , Santorelli, Filippo M. (Author) , Başak, Nazlı (Author) , Coarelli, Giulia (Author) , Horvath, Rita (Author) , Klebe, Stephan (Author) , Schüle-Freyer, Rebecca (Author) , Hooker, Andrew C. (Author) , Synofzik, Matthis (Author) , Karlsson, Mats O. (Author) ,


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  5. 5
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    Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort by Berger, Moritz (Author) , Garcia-Moreno, Hector (Author) , Ferreira, Mónica (Author) , Hubener-Schmid, Jeannette (Author) , Schaprian, Tamara (Author) , Wegner, Philipp (Author) , Elter, Tim (Author) , Teichmann, Kennet M. (Author) , Santana, Magda M. (Author) , Grobe-Einsler, Marcus (Author) , Oender, Demet (Author) , Koyak, Berkan S. C. (Author) , Bernsen, Sarah (Author) , Pereira de Almeida, Luís (Author) , Silva, Patrick (Author) , Ribeiro, Joana Afonso (Author) , Cunha, Inês (Author) , Gonzalez-Robles, Cristina (Author) , Khan, Shamsher (Author) , Heslegrave, Amanda (Author) , Zetterberg, Henrik (Author) , Lima, Manuela (Author) , Raposo, Mafalda (Author) , Ferreira, Ana F. (Author) , Vasconcelos, João (Author) , van de Warrenburg, Bart P. (Author) , van Gaalen, Judith (Author) , van Prooije, Teije H. (Author) , de Vries, Jeroen (Author) , Schols, Ludger (Author) , Riess, Olaf (Author) , Synofzik, Matthis (Author) , Timmann, Dagmar (Author) , Thieme, Andreas (Author) , Erdlenbruch, Friedrich (Author) , Infante, Jon (Author) , Pelayo-Negro, Ana L. (Author) , Manrique, Leire (Author) , Reetz, Kathrin (Author) , Dogan, Imis (Author) , Oz, Gulin (Author) , Joers, James M. (Author) , Bushara, Khalafalla (Author) , Onyike, Chiadikaobi (Author) , Povazan, Michal (Author) , Jacobi, Heike (Author) , Schmahmann, Jeremy D. (Author) , Ratai, Eva-Maria (Author) , Schmid, Matthias (Author) , Giunti, Paola (Author) , Klockgether, Thomas (Author) , Faber, Jennifer (Author) ,


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  6. 6
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    A pharmacometrics-informed trial simulation framework for optimizing study designs for disease-modifying treatments in rare neurological disorders by Ryeznik, Yevgen (Author) , Hilgers, Ralf-Dieter (Author) , Heussen, Nicole (Author) , Comets, Emmanuelle (Author) , Mentré, France (Author) , Hendrickx, Niels (Author) , Karlsson, Mats O. (Author) , Hooker, Andrew C. (Author) , Hamdan, Alzahra (Author) , Chen, Xiaomei (Author) , Schüle-Freyer, Rebecca (Author) , Synofzik, Matthis (Author) , Sverdlov, Oleksandr (Author) ,


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  7. 7
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    Comparing randomized trial designs to estimate treatment effect in rare diseases with longitudinal models: a simulation study showcased by Autosomal Recessive Cerebellar Ataxias us... by Hendrickx, Niels (Author) , Mentré, France (Author) , Hamdan, Alzahra (Author) , Karlsson, Mats O. (Author) , Hooker, Andrew C. (Author) , Traschütz, Andreas (Author) , Gagnon, Cynthia (Author) , Schüle-Freyer, Rebecca (Author) , Synofzik, Matthis (Author) , Comets, Emmanuelle (Author) , Chen, Xiaomei (Author) , Heussen, Nicole Maria (Author) , Hilgers, Ralf-Dieter (Author) , Klockgether, Thomas (Author) , Ryeznik, Yevgen (Author) , Sverdlov, Oleksandr (Author) ,


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  8. 8
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    Tailored antisense oligonucleotides for ultrarare CNS diseases: an experience-based best practice framework for individual patient evaluation by Schüle-Freyer, Rebecca (Author) , Graessner, Holm (Author) , Aartsma-Rus, Annemieke (Author) , van Roon-Mom, Willeke M. C. (Author) , Synofzik, Matthis (Author) ,


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  9. 9
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    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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  10. 10
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    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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  11. 11
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    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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  12. 12
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    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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  13. 13
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    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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  14. 14
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    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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  15. 15
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    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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  16. 16
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    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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  17. 17
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    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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  18. 18
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    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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  19. 19
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    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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  20. 20
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    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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