Browsing Universitätsbibliographie by Author "Synofzik, Matthis"

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Browsing Universitätsbibliographie by Author "Synofzik, Matthis"

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  • Association of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With GRN Frontotemporal Dementia
    Borrego-Ecija, Sergi; Junca-Parella, Jordi; Vandebergh, Marijne; Millan, Agnes Perez; Balasa, Mircea; Llado, Albert; Bouzigues, Arabella; Russell, Lucy Louise; Foster, Phoebe H.; Ferry-Bolder, Eve; Van Swieten, John C.; Jiskoot, Lize Corrine; Seelaar, Harro; Laforce Jr, Robert; Graff, Caroline; Galimberti, Daniela; Vandenberghe, Rik; de Mendonca, Alexandre; Tiraboschi, Pietro; Santana, Isabel; Gerhard, Alexander; Levin, Johannes; Sorbi, Sandro; Otto, Markus; Pasquier, Florence; Ducharme, Simon; Butler, Christopher; Le Ber, Isabelle; Finger, Elizabeth; Tartaglia, Maria Carmela; Masellis, Mario; Rowe, James B.; Synofzik, Matthis; Moreno, Fermin; Borroni, Barbara; Rademakers, Rosa; Rohrer, Jonathan Daniel; Sanchez-Valle, Raquel (2024)
  • ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
    Caporali, Leonardo; Magri, Stefania; Legati, Andrea; Del Dotto, Valentina; Tagliavini, Francesca; Balistreri, Francesca; Nasca, Alessia; La Morgia, Chiara; Carbonelli, Michele; Valentino, Maria L.; Lamantea, Eleonora; Baratta, Silvia; Schoels, Ludger; Schuele, Rebecca; Barboni, Piero; Cascavilla, Maria L.; Maresca, Alessandra; Capristo, Mariantonietta; Ardissone, Anna; Pareyson, Davide; Cammarata, Gabriella; Melzi, Lisa; Zeviani, Massimo; Peverelli, Lorenzo; Lamperti, Costanza; Marzoli, Stefania B.; Fang, Mingyan; Synofzik, Matthis; Ghezzi, Daniele; Carelli, Valerio; Taroni, Franco (2020)
  • Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature
    Wilke, Carlo; Pomper, Joern K.; Biskup, Saskia; Puskas, Cornelia; Berg, Daniela; Synofzik, Matthis (2016)
  • Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies
    Synofzik, Matthis; Puccio, Helene; Mochel, Fanny; Schoels, Ludger (2019)
  • Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
    Synofzik, Matthis; Soehn, Anne S.; Gburek-Augustat, Janina; Schicks, Julia; Karle, Kathrin N.; Schuele, Rebecca; Haack, Tobias B.; Schoening, Martin; Biskup, Saskia; Rudnik-Schoeneborn, Sabine; Senderek, Jan; Hoffmann, Karl-Titus; MacLeod, Patrick; Schwarz, Johannes; Bender, Benjamin; Krueger, Stefan; Kreuz, Friedmar; Bauer, Peter; Schoels, Ludger (2013)
  • Beyond ALS and FTD : the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes
    Wilke, Carlo; Baets, Jonathan; De Bleecker, Jan L.; Deconinck, Tine; Biskup, Saskia; Hayer, Stefanie N.; Zuchner, Stephan; Schuele, Rebecca; De Jonghe, Peter; Synofzik, Matthis (2018)
  • Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease
    Cordts, Isabell; Semmler, Luisa; Prasuhn, Jannik; Seibt, Annette; Herebian, Diran; Navaratnarajah, Tharsini; Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Goericke, Sophia L.; Lingor, Paul; Brueggemann, Norbert; Muenchau, Alexander; Synofzik, Matthis; Timmann, Dagmar; Mayr, Johannes A.; Haack, Tobias B.; Distelmaier, Felix; Deschauer, Marcus (2022)
  • Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia
    Rebelo, Adriana P.; Eidhof, Ilse; Cintra, Vivian P.; Guillot-Noel, Lena; Pereira, Claudia, V; Timmann, Dagmar; Traschutz, Andreas; Schols, Ludger; Coarelli, Giulia; Durr, Alexandra; Anheim, Mathieu; Tranchant, Christine; van de Warrenburg, Bart; Guissart, Claire; Koenig, Michel; Howell, Jack; Moraes, Carlos T.; Schenck, Annette; Stevanin, Giovanni; Zuechner, Stephan; Synofzik, Matthis (2021)
  • Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
    Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P.; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J.; Bai, Yunhong; Bis-Brewer, Dana M.; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C.; Feely, Shawna M. E.; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A.; Isasi, Rosario; Khan, Alaa; Laura, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M.; Saveri, Paola; Sowden, Janet E.; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S.; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schuele, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A.; Hamed, Sherifa A.; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N.; Reilly, Mary M.; Shy, Michael E.; Zhai, R. Grace; Zuchner, Stephan (2020)
  • Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
    Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozgur; Dundar, Nihal; Uyanik, Gokhan; Schols, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry (2021)
  • Blood biomarkers confirm subjective cognitive decline (SCD) as a distinct molecular and clinical stage within the NIA-AA framework of Alzheimers disease
    Mengel, David; Soter, Ester; Ott, Julia Maren; Wacker, Madeleine; Leyva, Alejandra; Peters, Oliver; Hellmann-Regen, Julian; Schneider, Luisa-Sophie; Wang, Xiao; Priller, Josef; Spruth, Eike; Altenstein, Slawek; Schneider, Anja; Fliessbach, Klaus; Wiltfang, Jens; Hansen, Niels; Rostamzadeh, Ayda; Duezel, Emra; Glanz, Wenzel; Incesoy, Enise I.; Buerger, Katharina; Janowitz, Daniel; Ewers, Michael; Perneczky, Robert; Rauchmann, Boris; Teipel, Stefan; Kilimann, Ingo; Laske, Christoph; Sodenkamp, Sebastian; Spottke, Annika; Brustkern, Johanna; Brosseron, Frederic; Wagner, Michael; Stark, Melina; Kleineidam, Luca; Shao, Kai; Luesebrink, Falk; Yakupov, Renat; Schmid, Matthias; Hetzer, Stefan; Dechent, Peter; Scheffler, Klaus; Berron, David; Jessen, Frank; Synofzik, Matthis (2025)
  • Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3
    Mengel, David; Wellik, Isabel G.; Schuster, Kristen H.; Jarrah, Sabrina I.; Wacker, Madeleine; Ashraf, Naila S.; Oez, Gulin; Synofzik, Matthis; Costa, Maria do Carmo; Mcloughlin, Hayley S. (2023)
  • Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature
    Tarnutzer, A. A.; Gerth-Kahlert, C.; Timmann, D.; Chang, D. I.; Harmuth, F.; Bauer, P.; Straumann, D.; Synofzik, M. (2015)
  • Brain activation in frontotemporal and Alzheimer's dementia: a functional near-infrared spectroscopy study
    Metzger, Florian G.; Schopp, Betti; Haeussinger, Florian B. m; Dehnen, Katja; Synofzik, Matthis; Fallgatter, Andreas J.; Ehlis, Ann-Christine (2016)
  • Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia
    Tsvetanov, Kamen A.; Gazzina, Stefano; Jones, P. Simon; van Swieten, John; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert, Jr.; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Frisoni, Giovanni; Ghidoni, Roberta; Sorbi, Sandro; Rohrer, Jonathan D.; Rowe, James B. (2021)
  • C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers
    Rizzu, Patrizia; Blauwendraat, Cornelis; Heetveld, Sasja; Lynes, Emily M.; Castillo-Lizardo, Melissa; Dhingra, Ashutosh; Pyz, Elwira; Hobert, Markus; Synofzik, Matthis; Simon-Sanchez, Javier; Francescatto, Margherita; Heutink, Peter (2016)
  • Case Report: Deep brain stimulation improves tremor in FGF-14 associated spinocerebellar ataxia
    Loeffler, Moritz A. A.; Synofzik, Matthis; Cebi, Idil; Klocke, Philipp; Hormozi, Mohammad; Gasser, Thomas; Gharabaghi, Alireza; Weiss, Daniel (2022)
  • Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
    Habibzadeh, Parham; Tabatabaei, Zahra; Inaloo, Soroor; Nashatizadeh, Muhammad Mahdi; Synofzik, Matthis; Ostovan, Vahid Reza; Faghihi, Mohammad Ali (2020)
  • Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia
    Bussy, Aurelie P.; Levy, Jake P.; Best, Tristin; Patel, Raihaan; Cupo, Lani; Van Langenhove, Tim; Nielsen, Jorgen E.; Pijnenburg, Yolande; Waldo, Maria Landqvist M.; Remes, Anne M. L.; Schroeter, Matthias L.; Santana, Isabel; Pasquier, Florence; Otto, Markus; Danek, Adrian; Levin, Johannes; Le Ber, Isabelle; Vandenberghe, Rik; Synofzik, Matthis; Moreno, Fermin; de Mendonca, Alexandre; Sanchez-Valle, Raquel; Laforce, Robert; Langheinrich, Tobias; Gerhard, Alexander; Graff, Caroline R.; Butler, Chris R.; Sorbi, Sandro; Jiskoot, Lize; Seelaar, Harro C.; van Swieten, John C.; Finger, Elizabeth; Tartaglia, Maria Carmela; Masellis, Mario; Tiraboschi, Pietro; Galimberti, Daniela; Borroni, Barbara B.; Rowe, James B.; Bocchetta, Martina D.; Rohrer, Jonathan D. A.; Devenyi, Gabriel A.; Chakravarty, M. Mallar; Ducharme, Simon (2023)
  • Cerebellar Bottom of Fissure Hyperintensities in MT-ATP6-Associated Ataxia
    Roeben, Benjamin; Bueltmann, Eva; Stendel, Claudia; Synofzik, Matthis (2022)