Auflistung Universitätsbibliographie nach Autor "Wiethoff, Sarah"

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Auflistung Universitätsbibliographie nach Autor "Wiethoff, Sarah"

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  • Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
    Mencacci, Niccolo E.; Brockmann, Marisa M.; Dai, Jinye; Pajusalu, Sander; Atasu, Burcu; Campos, Joaquin; Pino, Gabriela; Gonzalez-Latapi, Paulina; Patzke, Christopher; Schwake, Michael; Tucci, Arianna; Pittman, Alan; Simon-Sanchez, Javier; Carvill, Gemma L.; Balint, Bettina; Wiethoff, Sarah; Warner, Thomas T.; Papandreou, Apostolos; Soo, Audrey; Rein, Reet; Kadastik-Eerme, Liis; Puusepp, Sanna; Reinson, Karit; Tomberg, Tiiu; Hanagasi, Hasmet; Gasser, Thomas; Bhatia, Kailash P.; Kurian, Manju A.; Lohmann, Ebba; Ounap, Katrin; Rosenmund, Christian; Sudhof, Thomas C.; Wood, Nicholas W.; Krainc, Dimitri; Acuna, Claudio (2021)
  • De novo mutations in PDE1 0A cause childhood-onset chorea with bilateral striatal lesions
    Mencacci, Niccolo E.; Kamsteeg, Erik-Jan; Nakashima, Kosuke; R'Bibo, Lea; Lynch, David S.; Balint, Bettina; Willemsen, Michel A. A. P.; Adams, Matthew E.; Wiethoff, Sarah; Suzuki, Kazunori; Davies, Ceri H.; Ng, Joanne; Meyer, Esther; Veneziano, Liana; Giunti, Paola; Hughes, Deborah; Raymond, F. Lucy; Carecchio, Miryam; Zorzi, Giovanna; Nardocci, Nardo; Barzaghi, Chiara; Garavaglia, Barbara; Salpietro, Vincenzo; Hardy, John; Pittman, Alan M.; Houlden, Henry; Kurian, Manju A.; Kimura, Haruhide; Vissers, Lisenka E. L. M.; Wood, Nicholas W.; Bhatia, Kailash P. (2016)
  • 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)
  • DNA Repair Pathways Underlie a Common Genetic Mechanism Modulating Onset in Polyglutamine Diseases
    Bettencourt, Conceicao; Hensman-Moss, Davina; Flower, Michael; Wiethoff, Sarah; Brice, Alexis; Goizet, Cyril; Stevanin, Giovanni; Koutsis, Georgios; Karadima, Georgia; Panas, Marios; Yescas-Gomes, Petra; Esmeralda Garcia-Velazquez, Lizbeth; Elisa Alonso-Vilatela, Maria; Lima, Manuela; Raposo, Mafalda; Traynor, Bryan; Sweeney, Mary; Wood, Nicholas; Giunti, Paola; Durr, Alexandra; Holmans, Peter; Houlden, Henry; Tabrizi, Sarah J.; Jones, Lesley (2016)
  • FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications
    Rattay, Tim W.; Lindig, Tobias; Baets, Jonathan; Smets, Katrien; Deconinck, Tine; Soehn, Anne S.; Hoertnagel, Konstanze; Eckstein, Kathrin N.; Wiethoff, Sarah; Reichbauer, Jennifer; Doebler-Neumann, Marion; Kraegeloh-Mann, Ingeborg; Auer-Grumbach, Michaela; Plecko, Barbara; Muenchau, Alexander; Wilken, Bernd; Janauschek, Marc; Giese, Anne-Katrin; De Bleecker, Jan L.; Ortibus, Els; Debyser, Martine; Lopez de Munain, Adolfo; Pujol, Aurora; Bassi, Maria Teresa; D'Angelo, Maria Grazia; De Jonghe, Peter; Zuchner, Stephan; Bauer, Peter; Schoels, Ludger; Schuele, Rebecca (2019)
  • Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations
    Wiethoff, Sarah; Hersheson, Joshua; Bettencourt, Conceicao; Wood, Nicholas W.; Houlden, Henry (2016)
  • Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene
    Wiethoff, Sarah; Bettencourt, Conceicao; Paudel, Reema; Madon, Prochi; Liu, Yo-Tsen; Hersheson, Joshua; Wadia, Noshir; Desai, Joy; Houlden, Henry (2017)
  • Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes
    Wiethoff, Sarah; Zhour, Ahmad; Schoels, Ludger; Fischer, Manuel Dominik (2012)
  • The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findings
    Paterson, Ross W.; Brown, Rachel L.; Benjamin, Laura; Nortley, Ross; Wiethoff, Sarah; Bharucha, Tehmina; Jayaseelan, Dipa L.; Kumar, Guru; Raftopoulos, Rhian E.; Zambreanu, Laura; Vivekanandam, Vinojini; Khoo, Anthony; Geraldes, Ruth; Chinthapalli, Krishna; Boyd, Elena; Tuzlali, Hatice; Price, Gary; Christofi, Gerry; Morrow, Jasper; McNamara, Patricia; McLoughlin, Benjamin; Lim, Soon Tjin; Mehta, Puja R.; Levee, Viva; Keddie, Stephen; Yong, Wisdom; Trip, S. Anand; Foulkes, Alexander J. M.; Hotton, Gary; Miller, Thomas D.; Everitt, Alex D.; Carswell, Christopher; Davies, Nicholas W. S.; Yoong, Michael; Attwell, David; Sreedharan, Jemeen; Silber, Eli; Schott, Jonathan M.; Chandratheva, Arvind; Perry, Richard J.; Simister, Robert; Checkley, Anna; Longley, Nicky; Farmer, Simon F.; Carletti, Francesco; Houlihan, Catherine; Thom, Maria; Lunn, Michael P.; Spillane, Jennifer; Howard, Robin; Vincent, Angela; Werring, David J.; Hoskote, Chandrashekar; Jager, Hans Rolf; Manji, Hadi; Zandi, Michael S. (2020)