Auflistung Universitätsbibliographie nach Autor "Schüle-Freyer, Rebecca"

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Correlations between serum and CSF pNfH levels in ALS, FTD and controls: a comparison of three analytical approaches

Wilke, Carlo; Pujol-Calderon, Fani; Barro, Christian; Stransky, Elke; Blennow, Kaj; Michalak, Zuzanna; Deuschle, Christian; Jeromin, Andreas; Zetterberg, Henrik; Schuele, Rebecca; Hoglund, Kina; Kuhle, Jens; Synofzik, Matthis (2019)
CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia

Kariminejad, A.; Schoels, L.; Schuele, R.; Tonekaboni, S. H.; Abolhassani, A.; Fadaee, M.; Rosti, R. O.; Gleeson, J. G. (2016)
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

Van de Vondel, Liedewei; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot-Noel, Lena; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Brice, Alexis; Durr, Alexandra; Klebe, Stephan; Stock, Friedrich; Bischoff, Almut Turid; Rattay, Tim W.; Sobrido, Maria-Jesus; De Michele, Giovanna; De Jonghe, Peter; Klopstock, Thomas; Lohmann, Katja; Zanni, Ginevra; Santorelli, Filippo M.; Timmerman, Vincent; Haack, Tobias B.; Zuchner, Stephan; Schuele, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Basak, A. Nazli; Baets, Jonathan (2022)
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)
De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)

Karle, Kathrin N.; Biskup, Saskia; Schuele, Rebecca; Schweitzer, Katherine J.; Krueger, Rejko; Bauer, Peter; Bender, Benjamin; Naegele, Thomas; Schoels, Ludger (2013)
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)
Disease severity affects quality of life of hereditary spastic paraplegia patients

Klimpe, S.; Schuele, R.; Kassubek, J.; Otto, S.; Kohl, Z.; Klebe, S.; Klopstock, T.; Ratzka, S.; Karle, K.; Schoels, L. (2012)
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

Schmidt, Wolfgang M.; Rutledge, S. Lane; Schuele, Rebecca; Mayerhofer, Benjamin; Zuechner, Stephan; Boltshauser, Eugen; Bittner, Reginald E. (2015)
Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

Varga, Rita-Eva; Schuele, Rebecca; Fadel, Hicham; Valenzuela, Irene; Speziani, Fiorella; Gonzalez, Michael; Rudenskaia, Galina; Nuernberg, Gudrun; Thiele, Holger; Altmueller, Janine; Alvarez, Victoria; Gamez, Josep; Garbern, James Y.; Nuernberg, Peter; Zuchner, Stephan; Beetz, Christian (2013)
Dopamine and intertemporal choice in humans

Muente, Thomas F.; Ye, Zheng; Marco-Pallares, Josep; Kraemer, Ulrike M.; Schuele, Rebecca; Schoels, Ludger; Rojo-Fite, Nuria; Camara, Estela; Cunillera, Toni; Cucurell, David; Rodriguez-Fornells, Antoni (2018)
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)

Karle, Kathrin N.; Schuele, Rebecca; Klebe, Stephan; Otto, Susanne; Frischholz, Christian; Liepelt-Scarfone, Inga; Schoels, Ludger (2013)
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders

Gilley, Jonathan; Jackson, Oscar; Pipis, Menelaos; Estiar, Mehrdad A.; Al-Chalabi, Ammar; Danzi, Matt C.; van Eijk, Kristel R.; Goutman, Stephen A.; Harms, Matthew B.; Houlden, Henry; Iacoangeli, Alfredo; Kaye, Julia; Lima, Leandro; Genomics, Queen Square; Ravits, John; Rouleau, Guy A.; Schuele, Rebecca; Xu, Jishu; Zuchner, Stephan; Cooper-Knock, Johnathan; Gan-Or, Ziv; Reilly, Mary M.; Coleman, Michael P. (2021)
Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient

Hauser, Stefan; Erzler, Melanie; Theurer, Yvonne; Schuster, Stefanie; Schuele, Rebecca; Schoels, Ludger (2016)
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Farhan, Sali M. K.; Howrigan, Daniel P.; Abbott, Liam E.; Klim, Joseph R.; Topp, Simon D.; Byrnes, Andrea E.; Churchhouse, Claire; Phatnani, Hemali; Smith, Bradley N.; Rampersaud, Evadnie; Wu, Gang; Wuu, Joanne; Shatunov, Aleksey; Iacoangeli, Alfredo; Al Khleifat, Ahmad; Mordes, Daniel A.; Ghosh, Sulagna; Eggan, Kevin; Rademakers, Rosa; McCauley, Jacob L.; Schuele, Rebecca; Zuchner, Stephan; Benatar, Michael; Taylor, J. Paul; Nalls, Michael; Gotkine, Marc; Shaw, Pamela J.; Morrison, Karen E.; Al-Chalabi, Ammar; Traynor, Bryan; Shaw, Christopher E.; Goldstein, David B.; Harms, Matthew B.; Daly, Mark J.; Neale, Benjamin M. (2019)
Factor XIII Val34Leu polymorphism is associated with increased factor XIII activation and decreased transcutaneous oxygen readings in patients with diabetic foot ulcers

Kueper, M. A.; Schuele, R.; Mayer, P.; Koenigsrainer, A.; Beckert, S. (2012)
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)
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varon syndrome

Zimmermann, Milan; Schuster, Stefanie; Boesch, Sylvia; Korenke, G. Christoph; Mohr, Julia; Reichbauer, Jennifer; Kernstock, Christoph; Kotzot, Dieter; Spahlinger, Veronika; Schuele-Freyer, Rebecca; Schoels, Ludger (2020)
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

Smets, Katrien; Duarri, Anna; Deconinck, Tine; Ceulemans, Berten; van de Warrenburg, Bart P.; Zuechner, Stephan; Gonzalez, Michael Anthony; Schuele, Rebecca; Synofzik, Matthis; Van der Aa, Nathalie; De Jonghe, Peter; Verbeek, Dineke S.; Baets, Jonathan (2015)
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

Eidhof, Ilse; Baets, Jonathan; Kamsteeg, Erik-Jan; Deconinck, Tine; van Ninhuijs, Lisa; Martin, Jean-Jacques; Schuele, Rebecca; Zuchner, Stephan; De Jonghe, Peter; Schenck, Annette; van de Warrenburg, Bart P. (2018)

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