Search Results - Synofzik, Matthis
- Showing 1 - 20 results of 21
- Go to Next Page
-
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Editorial Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
8
Advancing ASO therapies from development to implementation by Schüle-Freyer, Rebecca (Author) , Synofzik, Matthis (Author) , Graessner, Holm (Author) , Aartsma-Rus, Annemieke (Author) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource -
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) ,
Call Number: Loading…
Located: Loading…
Article (Journal) Online Resource
Search Tools:
Related Subjects
ARSACS
SCA3
SPG7
ASO
ATXN3
Affect
Ataxia
CCAS
CCAS-Scale
Cerebellum
Cognition
Data aggregation
Data sharing
Diffusion tensor imaging
Drug development
Europe
Gene Mutation
Gene burden
Genetic association study
Genome sequencing
Genotype
Haplotypes
Huntington's disease
Lifestyle
Magnetic resonance imaging
Monogenic diseases
N = 1
Neurological disorders
Neuromuscular diseases
Non-motor symptoms