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Author/Creator Beetz, Christian

31. Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Issue 18 (5th May 2022)

Authors:
Riedhammer, Korbinian M; Burgemeister, Anna L; Cantagrel, Vincent; Amiel, Jeanne; Siquier-Pernet, Karine; Boddaert, Nathalie; Hertecant, Jozef; Kannouche, Patricia L; Pouvelle, Caroline; Htun, Stephanie; Slavotinek, Anne M; Beetz, Christian; Diego-Alvarez, Dan; Kampe, Kapil; Fleischer, Nicole; Aw...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 18(2022)
Page Start:
3083
Record Type:
Journal Article
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32. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. (15th December 2020)

Authors:
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, D...
Journal:
Neurology
Issue:
Volume 95:Number 24(2020)
Page Start:
Record Type:
Journal Article
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33. The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings. Issue 4 (14th December 2020)

Authors:
Skrahina, Volha; Gaber, Hanaa; Vollstedt, Eva‐Juliane; Förster, Toni M.; Usnich, Tatiana; Curado, Filipa; Brüggemann, Norbert; Paul, Jefri; Bogdanovic, Xenia; Zülbahar, Selen; Olmedillas, Maria; Skobalj, Snezana; Ameziane, Najim; Bauer, Peter; Csoti, Ilona; Koleva‐Alazeh, Natalia; Grittner, Ulrik...
Journal:
Movement disorders
Issue:
Volume 36:Issue 4(2021)
Page Start:
1005
Record Type:
Journal Article
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34. The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. Issue 1 (December 2015)

Authors:
Jahic, Amir; Khundadze, Mukhran; Jaenisch, Nadine; Schüle, Rebecca; Klimpe, Sven; Klebe, Stephan; Frahm, Christiane; Kassubek, Jan; Stevanin, Giovanni; Schöls, Ludger; Brice, Alexis; Hübner, Christian; Beetz, Christian
Journal:
Orphanet journal of rare diseases
Issue:
Volume 9:Issue 1(2014)
Page Start:
1
Record Type:
Journal Article
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35. The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. Issue 1 (December 2015)

Authors:
Jahic, Amir; Khundadze, Mukhran; Jaenisch, Nadine; Schüle, Rebecca; Klimpe, Sven; Klebe, Stephan; Frahm, Christiane; Kassubek, Jan; Stevanin, Giovanni; Schöls, Ludger; Brice, Alexis; Hübner, Christian; Beetz, Christian
Journal:
Orphanet journal of rare diseases
Issue:
Volume 9:Issue 1(2014)
Page Start:
1
Record Type:
Journal Article
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36. VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. Issue 4 (26th December 2019)

Authors:
Beetz, Christian; Ameziane, Najim; Kdissa, Ameni; Karageorgou, Vasiliki; Bauer, Peter; Suleiman, Jehan; Sutton, V. Reid; El‐Hattab, Ayman W.
Journal:
Clinical genetics
Issue:
Volume 97:Issue 4(2020)
Page Start:
644
Record Type:
Journal Article
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