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Schrey, Michael; Codina, Carolina; Kraft, Robert; Beetz, Christian; Kalff, Rolf; Wölfl, Stefan; Patt, Stephan

Molecular characterization of voltage-gated sodium channels in human gliomas

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Ovid Technologies (Wolters Kluwer Health), 2002

Published in: NeuroReport
Beetz, Christian; Bergner, Sven; Brodoehl, Stefan; Brodhun, Michael; Ewald, Christian; Kalff, Rolf; Krüger, Jutta; Patt, Stephan; Kiehntopf, Michael; Deufel, Thomas

Outcome-based profiling of astrocytic tumours identifies prognostic gene expression signatures which link molecular and morphology-based pathology

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Spandidos Publications, 2006

Published in: International Journal of Oncology
Jahic, Amir; Khundadze, Mukhran; Jaenisch, Nadine; Schüle, Rebecca; Klimpe, Sven; Klebe, Stephan; Frahm, Christiane; Kassubek, Jan; Stevanin, Giovanni; Schöls, Ludger; Brice, Alexis; Hübner, Christian A.; Beetz, Christian

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

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Springer Science and Business Media LLC, 2015

Published in: Orphanet Journal of Rare Diseases
Schüle, Rebecca; Brandt, Elisabeth; Karle, Kathrin N.; Tsaousidou, Maria; Klebe, Stephan; Klimpe, Sven; Auer-Grumbach, Michaela; Crosby, Andrew H.; Hübner, Christian A.; Schöls, Ludger; Deufel, Thomas; Beetz, Christian

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

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Springer Science and Business Media LLC, 2009

Published in: neurogenetics
Pressler, Carsten A.; Heinzinger, Jolanta; Jeck, Nikola; Waldegger, Petra; Pechmann, Ulla; Reinalter, Stephan; Konrad, Martin; Beetz, Rolf; Seyberth, Hannsjo[Combining Diaeresis]rg W.; Waldegger, Siegfried

Late-Onset Manifestation of Antenatal Bartter Syndrome as a Result of Residual Function of the Mutated Renal Na+-K+-2Cl− Co-Transporter

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Ovid Technologies (Wolters Kluwer Health), 2006

Published in: Journal of the American Society of Nephrology
Beetz, Christian; Skrahina, Volha; Förster, Toni M.; Gaber, Hanaa; Paul, Jefri J.; Curado, Filipa; Rolfs, Arndt; Bauer, Peter; Schäfer, Stephan; Weckesser, Volkmar; Lieu, Vivi; Radefeldt, Mandy; Pöppel, Claudia; Krake, Susann; Kandaswamy, Krishna K.; Bruesehafer, Katja; Vogel, Florian

Rapid Large-Scale COVID-19 Testing during Shortages

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MDPI AG, 2020

Published in: Diagnostics
Varga, Rita-Eva; Schüle, Rebecca; Fadel, Hicham; Valenzuela, Irene; Speziani, Fiorella; Gonzalez, Michael; Rudenskaia, Galina; Nürnberg, Gudrun; Thiele, Holger; Altmüller, Janine; Alvarez, Victoria; Gamez, Josep; Garbern, James Y.; Nürnberg, Peter; Zuchner, Stephan; Beetz, Christian

Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot inATL1Blurs Autosomal Dominant Inheritance of Spastic Paraplegia : HUMAN MUTATION

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Hindawi Limited, 2013

Published in: Human Mutation
Schlipf, Nina A; Beetz, Christian; Schüle, Rebecca; Stevanin, Giovanni; Erichsen, Anne Kjersti; Forlani, Sylvie; Zaros, Cécile; Karle, Kathrin; Klebe, Stephan; Klimpe, Sven; Durr, Alexandra; Otto, Susanne; Tallaksen, Chantal M E; Riess, Olaf; Brice, Alexis; Bauer, Peter; Schöls, Ludger

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

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Springer Science and Business Media LLC, 2010

Published in: European Journal of Human Genetics
Skrahina, Volha; Grittner, Ulrike; Beetz, Christian; Skripuletz, Thomas; Juenemann, Martin; Krämer, Heidrun H.; Hahn, Katrin; Rieth, Andreas; Schaechinger, Volker; Patten, Monica; Tanislav, Christian; Achenbach, Stephan; Assmus, Birgit; Knebel, Fabian; Gingele, Stefan; Skrahin, Aliaksandr; Hartkamp, Jörg; Förster, Toni M.; Roesner, Sabine; Pereira, Catarina; Rolfs, Arndt

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

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Informa UK Limited, 2021

Published in: Annals of Medicine
Tiemeyer, Bärbel; Albiac Borraz, Elisa; Augustin, Jürgen; Bechtold, Michel; Beetz, Sascha; Beyer, Colja; Drösler, Matthias; Ebli, Martin; Eickenscheidt, Tim; Fiedler, Sabine; Förster, Christoph; Freibauer, Annette; Giebels, Michael; Glatzel, Stephan; Heinichen, Jan; Hoffmann, Mathias; Höper, Heinrich; Jurasinski, Gerald; Leiber‐Sauheitl, Katharina; Peichl‐Brak, Mandy; Roßkopf, Niko; Sommer, Michael; Zeitz, Jutta

High emissions of greenhouse gases from grasslands on peat and other organic soils

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Wiley, 2016

Published in: Global Change Biology
Beetz, Christian; Zuchner, Stephan; Ashley-Koch, Allison; Auer-Grumbach, Michaela; Byrne, Paula; Chinnery, Patrick F.; Hutchinson, Michael; McDermott, Christopher J.; Meijer, Inge A.; Nygren, Anders O.H.; Pericak-Vance, Margaret; Pyle, Angela; Rouleau, Guy A.; Schickel, Jörg; Shaw, Pamela J.; Deufel, Thomas

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

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Hindawi Limited, 2007

Published in: Human Mutation
Auer-Grumbach, Michaela; Toegel, Stefan; Schabhüttl, Maria; Weinmann, Daniela; Chiari, Catharina; Bennett, David L.H.; Beetz, Christian; Klein, Dennis; Andersen, Peter M.; Böhme, Ilka; Fink-Puches, Regina; Gonzalez, Michael; Harms, Matthew B.; Motley, William; Reilly, Mary M.; Renner, Wilfried; Rudnik-Schöneborn, Sabine; Schlotter-Weigel, Beate; Themistocleous, Andreas C.; Weishaupt, Jochen H.; Ludolph, Albert C.; Wieland, Thomas; Tao, Feifei; Abreu, Lisa; [...]

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

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Elsevier BV, 2016

Published in: The American Journal of Human Genetics
Beetz, Christian; Schüle, Rebecca; Deconinck, Tine; Tran-Viet, Khanh-Nhat; Zhu, Hui; Kremer, Berry P.H.; Frints, Suzanna G.M.; van Zelst-Stams, Wendy A.G.; Byrne, Paula; Otto, Susanne; Nygren, Anders O.H.; Baets, Jonathan; Smets, Katrien; Ceulemans, Berten; Dan, Bernard; Nagan, Narasimhan; Kassubek, Jan; Klimpe, Sven; Klopstock, Thomas; Stolze, Henning; Smeets, Hubert J.M.; Schrander-Stumpel, Constance T.R.M.; Hutchinson, Michael; van de Warrenburg, Bart P.; [...]

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

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Oxford University Press (OUP), 2008

Published in: Brain
Senderek, Jan; Lassuthova, Petra; Kabzińska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Dräger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N.; Horvath, Rita; Høyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N.; [...]

The genetic landscape of axonal neuropathies in the middle-aged and elderly : Focus on MME Focus on <i>MME</i>

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Ovid Technologies (Wolters Kluwer Health), 2020

Published in: Neurology
van der Knoop, Marieke M; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de França, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A L; Eaton, Alison J; Morneau-Jacob, Francois D; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J; Peeters-Scholte, Cacha M P C D; Kurul, Semra Hiz; [...]

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

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Oxford University Press (OUP), 2022

Published in: Brain
Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M; Alfares, Ahmed A; Zhu, Changlian; Uhrova Meszarosova, Anna; 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; [...]

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

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Oxford University Press (OUP), 2021

Published in: Brain
Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M; Alfares, Ahmed A; Zhu, Changlian; Uhrova Meszarosova, Anna; 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; [...]

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

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Oxford University Press (OUP), 2021

Published in: Brain
Bauer, Axel; Sappler, Nikolay; von Stülpnagel, Lukas; Klemm, Mathias; Schreinlechner, Michael; Wenner, Felix; Schier, Johannes; Al Tawil, Amani; Dolejsi, Theresa; Krasniqi, Aresa; Eiffener, Elodie; Bongarth, Christa; Stühlinger, Markus; Huemer, Martin; Gori, Tommaso; Wakili, Reza; Sahin, Riza; Schwinger, Robert; Lutz, Matthias; Luik, Armin; Gessler, Nele; Clemmensen, Peter; Linke, Axel; Maier, Lars S; [...]

Telemedical cardiac risk assessment by implantable cardiac monitors in patients after myocardial infarction with autonomic dysfunction (SMART-MI-DZHK9): a prospective investigator-initiated, randomised, multicentre, open-label, diagnostic trial

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Elsevier BV, 2022

Published in: The Lancet Digital Health
Kaskel, Stefan [Editor]

The chemistry of metal-organic frameworks : synthesis, characterization, and applications

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Weinheim: Wiley-VCH, 2016

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