Auflistung Universitätsbibliographie nach Autor "Synofzik, Matthis"

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Auflistung Universitätsbibliographie nach Autor "Synofzik, Matthis"

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  • De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
    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; Zuchner, Stephan; Kraegeloh-Mann, Ingeborg; Baets, Jonathan; de Jonghe, Peter; Bauer, Peter; Chen, S. R. Wayne; Schoels, Ludger; Schuele, Rebecca (2018)
  • De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
    Syrbe, Steffen; Hedrich, Ulrike B. S.; Riesch, Erik; Djemie, Tania; Mueller, Stephan; Moller, Rikke S.; Maher, Bridget; Hernandez-Hernandez, Laura; Synofzik, Matthis; Caglayan, Hande S.; Arslan, Mutluay; Serratosa, Jose M.; Nothnagel, Michael; May, Patrick; Krause, Roland; Loeffler, Heidrun; Detert, Katja; Dorn, Thomas; Vogt, Heinrich; Kraemer, Guenter; Schoels, Ludger; Mullis, Primus E.; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Sterbova, Katalin; Craiu, Dana C.; Hoffman-Zacharska, Dorota; Korff, Christian M.; Weber, Yvonne G.; Steinlin, Maja; Gallati, Sabina; Bertsche, Astrid; Bernhard, Matthias K.; Merkenschlager, Andreas; Kiess, Wieland; Gonzalez, Michael; Zuechner, Stephan; Palotie, Aarno; Suls, Arvid; De Jonghe, Peter; Helbig, Ingo; Biskup, Saskia; Wolff, Markus; Maljevic, Snezana; Schule, Rebecca; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Lerche, Holger; Lemke, Johannes R. (2015)
  • Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy
    Fischer, M. Dominik; Synofzik, Matthis; Kernstock, Christoph; Dietzsch, Janko; Heidlauf, Robert; Schicks, Julia; Srulijes, Karin; Wiethoff, Sarah; Menn, Oliver; Berg, Daniela; Schoels, Ludger; Schiefer, Ulrich (2013)
  • Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
    Pellerin, D.; Danzi, M. C.; Wilke, C.; Renaud, M.; Fazal, S.; Dicaire, M. -J; Scriba, C. K.; Ashton, C.; Yanick, C.; Beijer, D.; Rebelo, A.; Rocca, C.; Jaunmuktane, Z.; Sonnen, J. A.; Lariviere, R.; Genis, D.; Porcel, L. Molina; Choquet, K.; Sakalla, R.; Provost, S.; Robertson, R.; Allard-Chamard, X.; Tetreault, M.; Reiling, S. J.; Nagy, S.; Nishadham, V; Purushottam, M.; Vengalil, S.; Bardhan, M.; Nalini, A.; Chen, Z.; Mathieu, J.; Massie, R.; Chalk, C. H.; Lafontaine, A. -L; Evoy, F.; Rioux, M. -F; Ragoussis, J.; Boycott, K. M.; Dube, M. -P; Duquette, A.; Houlden, H.; Ravenscroft, G.; Laing, N. G.; Lamont, P. J.; Saporta, M. A.; Schuele, R.; Schoels, L.; La Piana, R.; Synofzik, M.; Zuchner, S.; Brais, B. (2023)
  • Delineating MT-ATP6-associated disease
    Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Shi Yuqing; Ganetzky, Rebecca D.; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schoels, Ludger; Distelmaier, Felix; Stettner, Georg M.; Buechner, Boriana; Falk, Marni J.; Mayr, Johannes A.; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B.; Prokisch, Holger; Wortmann, Saskia B.; Murayama, Kei; Fang, Fang; Klopstock, Thomas (2020)
  • Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
    Collier, Jack J.; Guissart, Claire; Olahova, Monika; Sasorith, Souphatta; Piron-Prunier, Florence; Suomi, Fumi; Zhang, David; Martinez-Lopez, Nuria; Leboucq, Nicolas; Bahr, Angela; Azzarello-Burri, Silvia; Reich, Selina; Schoels, Ludger; Polvikoski, Tuomo M.; Meyer, Pierre; Larrieu, Lise; Schaefer, Andrew M.; Alsaif, Hessa S.; Alyamani, Suad; Zuchner, Stephan; Barbosa, Ines A.; Deshpande, Charu; Pyle, Angela; Rauch, Anita; Synofzik, Matthis; Alkuraya, Fowzan S.; Rivier, Francois; Ryten, Mina; McFarland, Robert; Delahodde, Agnes; McWilliams, Thomas G.; Koenig, Michel; Taylor, Robert W. (2021)
  • Differential early subcortical involvement in genetic FTD within the GENFI cohort
    Bocchetta, Martina; Todd, Emily G.; Peakman, Georgia; Cash, David M.; Convery, Rhian S.; Russell, Lucy L.; Thomas, David L.; Iglesias, Juan Eugenio; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, Harro; Borroni, Barbara; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; de Mendonca, Alexandre; Santana, Isabel; Butler, Chris R.; Ducharme, Simon; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence; Rohrer, Jonathan D. (2021)
  • Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia
    Sogorb-Esteve, Aitana; Nilsson, Johanna; Swift, Imogen J.; Heller, Carolin; Bocchetta, Martina; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; van Swieten, John C.; Seelaar, Harro; Borroni, Barbara; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert, Jr.; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; Santana, Isabel; Butler, Chris R.; Ducharme, Simon; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence; Gobom, Johan; Brinkmalm, Ann; Blennow, Kaj; Zetterberg, Henrik; Rohrer, Jonathan D. (2022)
  • Digital Gait Biomarkers Allow to Capture 1-Year Longitudinal Change in Spinocerebellar Ataxia Type 3
    Ilg, Winfried; Mueller, Bjoern; Faber, Jennifer; van Gaalen, Judith; Hengel, Holger; Vogt, Ina R.; Hennes, Guido; van de Warrenburg, Bart; Klockgether, Thomas; Schoels, Ludger; Synofzik, Matthis (2022)
  • Disease-related cortical thinning in presymptomatic granulin mutation carriers
    Borrego-Ecija, Sergi; Sala-Llonch, Roser; van Swieten, John; Borroni, Barbara; Moreno, Fermin; Masellis, Mario; Tartaglia, Carmela; Graff, Caroline; Galimberti, Daniela; Laforce, Robert, Jr.; Rowe, James B.; Finger, Elizabeth; Vandenberghe, Rik; Tagliavini, Fabrizio; de Mendonca, Alexandre; Santana, Isabel; Synofzik, Matthis; Ducharme, Simon; Levin, Johannes; Danek, Adrian; Gerhard, Alex; Otto, Markus; Butler, Chris; Frisoni, Giovanni; Sorbi, Sandro; Heller, Carolin; Bocchetta, Martina; Cash, David M.; Convery, Rhian S.; Moore, Katrina M.; Rohrer, Jonathan D.; Sanchez-Valle, Raquel (2021)
  • Disentangling brain functional network remodeling in corticobasal syndrome - A multimodal MRI study
    Ballarini, Tommaso; Albrecht, Franziska; Mueller, Karsten; Jech, Robert; Diehl-Schmid, Janine; Fliessbach, Klaus; Kassubek, Jan; Lauer, Martin; Fassbender, Klaus; Schneider, Anja; Synofzik, Matthis; Wiltfang, Jens; Otto, Markus; Schroeter, Matthias L. (2020)
  • Dissemination in time and space in presymptomatic granulin mutation carriers: a GENFI spatial chronnectome study
    Premi, Enrico; Giunta, Marcello; Iraji, Armin; Rachakonda, Srinivas; Calhoun, Vince D.; Gazzina, Stefano; Benussi, Alberto; Gasparotti, Roberto; Archetti, Silvana; Bocchetta, Martina; Cash, Dave; Todd, Emily; Peakman, Georgia; Convery, Rhian; van Swieten, John C.; Jiskoot, Lize; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Tartaglia, Carmela; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Butler, Chris R.; Santana, Isabel; Gerhard, Alexander; Le Ber, Isabelle; Pasquier, Florence; Ducharme, Simon; Levin, Johannes; Danek, Adrian; Sorbi, Sandro; Otto, Markus; Rohrer, Jonathan D.; Borroni, Barbara (2021)
  • Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
    Bourcier, Dax; Belanger, Mathieu; Cote, Isabelle; Brais, Bernard; Synofzik, Matthis; Brisson, Jean-Denis; Rodrigue, Xavier; Gagnon, Maude-Marie; Mathieu, Jean; Gagnon, Cynthia (2020)
  • Doing good or bad: How interactions between action and emotion expectations shape the sense of agency
    Gentsch, Antje; Weiss, Carmen; Spengler, Stephanie; Synofzik, Matthis; Schuetz-Bosbach, Simone (2015)
  • Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study
    Premi, Enrico; Pengo, Marta; Mattioli, Irene; Cantoni, Valentina; Dukart, Juergen; Gasparotti, Roberto; Buratti, Emanuele; Padovani, Alessandro; Bocchetta, Martina; Todd, Emily G.; Bouzigues, Arabella; Cash, David M.; Convery, Rhian S.; Russell, Lucy L.; Foster, Phoebe; Thomas, David L.; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, Harro; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce Jr, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Tsvetanov, Kamen A.; Vandenberghe, Rik; Finger, Elizabeth; Tiraboschi, Pietro; de Mendonca, Alexandre; Santana, Isabel; Butler, Chris R.; Ducharme, Simon; Gerhard, Alexander; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence; Rohrer, Jonathan D.; Borroni, Barbara (2023)
  • Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration
    Tavares, Tamara Paulo; Mitchell, Derek G., V; Coleman, Kristy K. L.; Coleman, Brenda L.; Shoesmith, Christen L.; Butler, Christopher R.; Santana, Isabel; Danek, Adrian; Gerhard, Alexander; de Mendonca, Alexandre; Borroni, Barbara; Tartaglia, Maria Carmela; Graff, Caroline; Galimberti, Daniela; Tagliavini, Fabrizio; Moreno, Fermin; Frisoni, Giovanni; Rowe, James Benedict; Levin, Johannes; Van Swieten, John Cornelis; Otto, Markus; Synofzik, Matthis; Sanchez-Valle, Raquel; Vandenberghe, Rik; Laforce, Robert, Jr.; Ghidoni, Roberta; Sorbi, Sandro; Ducharme, Simon; Masellis, Mario; Rohrer, Jonathan; Finger, Elizabeth (2020)
  • Education modulates brain maintenance in presymptomatic frontotemporal dementia
    Gazzina, Stefano; Grassi, Mario; Premi, Enrico; Cosseddu, Maura; Alberici, Antonella; Archetti, Silvana; Gasparotti, Roberto; Van Swieten, John; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert Jr; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; de Mendonca, Alexandre; Santana, Isabel; Butler, Christopher R.; Ducharme, Simon; Gerhard, Alex; Danek, Adrian; Levin, Johannes; Otto, Markus; Frisoni, Giovanni; Sorbi, Sandro; Padovani, Alessandro; Rohrer, Jonathan D.; Borroni, Barbara (2019)
  • Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients
    Keskin, Isil; Forsgren, Elin; Lange, Dale J.; Weber, Markus; Birve, Anna; Synofzik, Matthis; Gilthorpe, Jonathan D.; Andersen, Peter M.; Marklund, Stefan L. (2016)
  • Effects of exergaming on attentional deficits and dual-tasking in Parkinson's disease
    Schaeffer, Eva; Busch, Jan-Hinrich; Roeben, Benjamin; Otterbein, Sascha; Saraykin, Pavel; Leks, Edyta; Liepelt-Scarfone, Inga; Synofzik, Matthis; Elshehabi, Morad; Maetzler, Walter; Hansen, Clint; Andris, Sarah; Berg, Daniela (2019)
  • Effects of exergaming on hippocampal volume and brain-derived neurotrophic factor levels in Parkinson's disease
    Schaeffer, Eva; Roeben, Benjamin; Granert, Oliver; Hanert, Annika; Liepelt-Scarfone, Inga; Leks, Edyta; Otterbein, Sascha; Saraykin, Pavel; Busch, Jan-Hinrich; Synofzik, Matthis; Stransky, Elke; Bartsch, Thorsten; Berg, Daniela (2022)