Auflistung Universitätsbibliographie nach Autor "Wiethoff, Sarah"

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Auflistung Universitätsbibliographie nach Autor "Wiethoff, Sarah"

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  • Assessment of functional and morphometric endpoints in patients with non-arteritic anterior ischemic optic neuropathy (NAION)
    Kernstock, Christoph; Beisse, Flemming; Wiethoff, Sarah; Mast, Andrea; Krapp, Elke; Grund, Regine; Dietzsch, Janko; Lagreze, Wolf; Fischer, Dominik; Schiefer, Ulrich (2014)
  • Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
    Efthymiou, Stephanie; Salpietro, Vincenzo; Malintan, Nancy; Poncelet, Mallory; Kriouile, Yamna; Fortuna, Sara; De Zorzi, Rita; Payne, Katelyn; Henderson, Lindsay B.; Cortese, Andrea; Maddirevula, Sateesh; Alhashmi, Nadia; Wiethoff, Sarah; Ryten, Mina; Botia, Juan A.; Provitera, Vincenzo; Schuelke, Markus; Vandrovcova, Jana; Groppa, Stanislav; Karashova, Blagovesta Marinova; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Perez-Duenas, Belen; Goraya, Jatinder S.; Sultan, Tipu; Mine, Jun; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Pineda-Marfa, Mercedes; Veggiotti, Pierangelo; Ferrari, Michel D.; van den Maagdenberg, Arn M. J. M.; Verrotti, Alberto; Marseglia, Giangluigi; Savasta, Salvatore; Garcia-Silva, Mayte; Ruiz, Alfons Macaya; Garavaglia, Barbara; Borgione, Eugenia; Portaro, Simona; Sanchez, Benigno Monteagudo; Boles, Richard; Papacostas, Savvas; Vikelis, Michail; Rothman, James; Kullmann, Dimitri; Papanicolaou, Eleni Zamba; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama; Lim, Shen-Yang; Shaikh, Farooq; Koutsis, George; Breza, Marianthi; Mangano, Salvatore; Scuderi, Carmela; Borgione, Eugenia; Morello, Giovanna; Stojkovic, Tanya; Zollo, Massimo; Heimer, Gali; Dauvilliers, Yves A.; Minetti, Carlo; Al-Khawaja, Issam; Al-Mutairi, Fuad; Hamed, Sherifa; Pipis, Menelaos; Bettencourt, Conceicao; Rinaldi, Simon; Walsh, Laurence; Torti, Erin; Iodice, Valeria; Najafi, Maryam; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Siquier-Pernet, Karine; Boddaert, Nathalie; De Lonlay, Pascale; Cantagrel, Vincent; Aguennouz, Mhammed; El Khorassani, Mohamed; Schmidts, Miriam; Alkuraya, Fowzan S.; Edvardson, Simon; Nolano, Maria; Devaux, Jerome; Houlden, Henry (2019)
  • 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)
  • Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families
    Oktay, Yavuz; Gungor, Serdal; Zeltner, Lena; Wiethoff, Sarah; Schoels, Ludger; Sonmezler, Ece; Yilmaz, Elmasnur; Munro, Benjamin; Bender, Benjamin; Kernstock, Christoph; Kaemereit, Sofie; Liepelt, Inga; Topf, Ana; Yis, Uluc; Laurie, Steven; Yaramis, Ahmet; Zuchner, Stephan; Hiz, Semra; Lochmueller, Hanns; Schuele, Rebecca; Horvath, Rita (2020)
  • CSF NFL in a Longitudinally Assessed PD Cohort: Age Effects and Cognitive Trajectories
    Lerche, Stefanie; Wurster, Isabel; Roeben, Benjamin; Zimmermann, Milan; Machetanz, Gerrit; Wiethoff, Sarah; Dehnert, Monique; Rietschel, Lea; Riebenbauer, Benjamin; Deuschle, Christian; Stransky, Elke; Lieplt-Scarfone, Inga; Gasser, Thomas; Brockmann, Kathrin (2020)
  • 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)
  • Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans
    Wang, Yubin; Hersheson, Joshua; Lopez, Dulce; Hammer, Monia; Liu, Yan; Lee, Ka-Hung; Pinto, Vanessa; Seinfeld, Jeff; Wiethoff, Sarah; Sun, Jiandong; Amouri, Rim; Hentati, Faycal; Baudry, Neema; Tran, Jennifer; Singleton, Andrew B.; Coutelier, Marie; Brice, Alexis; Stevanin, Giovanni; Durr, Alexandra; Bi, Xiaoning; Houlden, Henry; Baudry, Michel (2016)
  • Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy
    Rattay, Tim W.; Rautenberg, Maren; Soehn, Anne S.; Hengel, Holger; Traschuetz, Andreas; Roeben, Benjamin; Hayer, Stefanie N.; Schuele, Rebecca; Wiethoff, Sarah; Zeltner, Lena; Haack, Tobias B.; Cegan, Alexander; Schoels, Ludger; Schleicher, Erwin; Peter, Andreas (2020)
  • 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)
  • Functional responses and structural connections of cortical areas for processing faces and voices in the superior temporal sulcus
    Ethofer, Thomas; Bretscher, Johannes; Wiethoff, Sarah; Bisch, Jeanne; Schlipf, Sarah; Wildgruber, Dirk; Kreifelts, Benjamin (2013)
  • Gene co-expression networks shed light into diseases of brain iron accumulation
    Bettencourt, Conceicao; Forabosco, Paola; Wiethoff, Sarah; Heidari, Moones; Johnstone, Daniel M.; Botia, Juan A.; Collingwood, Joanna F.; Hardy, John; Milward, Elizabeth A.; Ryten, Mina; Houlden, Henry (2016)
  • Genotype-Phenotype Correlations, Dystonia and Disease Progression in Spinocerebellar Ataxia Type 14
    Chelban, Viorica; Wiethoff, Sarah; Fabian-Jessing, Bjorn K.; Haridy, Nourelhoda A.; Khan, Alaa; Efthymiou, Stephanie; Becker, Esther B. E.; O'Connor, Emer; Hersheson, Joshua; Newland, Katrina; Hojland, Allan Thomas; Gregersen, Pernille A.; Lindquist, Suzanne G.; Petersen, Michael B.; Nielsen, Jorgen E.; Nielsen, Michael; Wood, Nicholas W.; Giunti, Paola; Houlden, Henry (2018)
  • Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
    Schuele, Rebecca; Wiethoff, Sarah; Martus, Peter; Karle, Kathrin N.; Otto, Susanne; Klebe, Stephan; Klimpe, Sven; Gallenmueller, Constanze; Kurzwelly, Delia; Henkel, Dorothea; Rimmele, Florian; Stolze, Henning; Kohl, Zacharias; Kassubek, Jan; Klockgether, Thomas; Vielhaber, Stefan; Kamm, Christoph; Klopstock, Thomas; Bauer, Peter; Zuechner, Stephan; Liepelt-Scarfone, Inga; Schoels, Ludger (2016)
  • Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations
    Wiethoff, Sarah; Hersheson, Joshua; Bettencourt, Conceicao; Wood, Nicholas W.; Houlden, Henry (2016)
  • Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
    Steel, Dora; Zech, Michael; Zhao, Chen; Barwick, Katy E. S.; Burke, Derek; Demailly, Diane; Kumar, Kishore R.; Zorzi, Giovanna; Nardocci, Nardo; Kaiyrzhanov, Rauan; Wagner, Matias; Iuso, Arcangela; Berutti, Riccardo; Skorvanek, Matej; Necpal, Jan; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Sudhakar, Sniya; Ferrini, Arianna; Sharma, Suvasini; Kamsteeg, Erik-Jan; Tijssen, Marina A.; Verschuuren, Corien; van Egmond, Martje E.; Flowers, Joanna M.; McEntagart, Meriel; Tucci, Arianna; Coubes, Philippe; Bustos, Bernabe I.; Gonzalez-Latapi, Paulina; Tisch, Stephen; Darveniza, Paul; Gorman, Kathleen M.; Peall, Kathryn J.; Boetzel, Kai; Koch, Jan C.; Kmiec, Tomasz; Plecko, Barbara; Boesch, Sylvia; Haslinger, Bernhard; Jech, Robert; Garavaglia, Barbara; Wood, Nick; Houlden, Henry; Gissen, Paul; Lubbe, Steven J.; Sue, Carolyn M.; Cif, Laura; Mencacci, Niccolo E.; Anderson, Glenn; Kurian, Manju A.; Winkelmann, Juliane (2020)
  • Neural Conversion and Patterning of Human Pluripotent Stem Cells: A Developmental Perspective
    Zirra, Alexandra; Wiethoff, Sarah; Patani, Rickie (2016)
  • Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4)
    Rattay, Tim W.; Boldt, Andreas; Voelker, Maximilian; Wiethoff, Sarah; Hengel, Holger; Schuele, Rebecca; Schoels, Ludger (2020)
  • 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)