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Author/Creator Biskup, Saskia

1. 3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism. Issue 6 (5th July 2021)

Authors:
Meyer, Melanie; Hollenbeck, Jana C.; Reunert, Janine; Seelhöfer, Anja; Rust, Stephan; Fobker, Manfred; Biskup, Saskia; Och, Ulrike; Linden, Mechthild; Sass, Jörn Oliver; Marquardt, Thorsten
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 6(2021)
Page Start:
1323
Record Type:
Journal Article
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4. A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3′UTR‐encoded, aggregation‐inducing motif. Issue 2 (27th November 2017)

Authors:
Bock, Andrea S.; Günther, Sven; Mohr, Julia; Goldberg, Lisa V.; Jahic, Amir; Klisch, Cornelia; Hübner, Christian A.; Biskup, Saskia; Beetz, Christian
Journal:
Human mutation
Issue:
Volume 39:Issue 2(2018)
Page Start:
193
Record Type:
Journal Article
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5. A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns. Issue 12 (30th July 2021)

Authors:
Heide, Ev‐Christin; Puk, Oliver; Biskup, Saskia; Krahn, Arne; Rauf, Erik; Kreilkamp, Barbara A. K.; Paulus, Walter; Focke, Niels K.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 12(2021)
Page Start:
3838
Record Type:
Journal Article
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6. A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. Issue 12 (14th September 2016)

Authors:
Hogrebe, Max; Murakami, Yoshiko; Wild, Martin; Ahlmann, Martina; Biskup, Saskia; Hörtnagel, Konstanze; Grüneberg, Marianne; Reunert, Janine; Linden, Tobias; Kinoshita, Taroh; Marquardt, Thorsten
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 12(2016)
Page Start:
3319
Record Type:
Journal Article
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7. Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus. Issue 1 (11th November 2020)

Authors:
Rad, Aboulfazl; Schade‐Mann, Thore; Gamerdinger, Philipp; Yanus, Grigoriy A.; Schulte, Björn; Müller, Marcus; Imyanitov, Evgeny N.; Biskup, Saskia; Löwenheim, Hubert; Tropitzsch, Anke; Vona, Barbara
Journal:
Human mutation
Issue:
Volume 42:Issue 1(2021)
Page Start:
25
Record Type:
Journal Article
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9. Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin. Issue 8 (14th June 2022)

Authors:
Cordts, Isabell; Önder, Demet; Traschütz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiß, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Raut...
Journal:
Movement disorders
Issue:
Volume 37:Issue 8(2022)
Page Start:
1707
Record Type:
Journal Article
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10. ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response. (February 2020)

Authors:
Gasser, Marius; Boonsimma, Ponghatai; Netbaramee, Wiracha; Wechapinan, Thanin; Srichomthomg, Chalurmpon; Ittiwut, Chupong; Krenn, Martin; Zimprich, Fritz; Milenkovic, Ivan; Abicht, Angela; Biskup, Saskia; Roser, Timo; Shotelersuk, Vorasuk; Tacke, Moritz; Kuersten, Marianne; Wagner, Matias; Borggr...
Journal:
Journal of clinical neuroscience
Issue:
Volume 72(2020)
Page Start:
31
Record Type:
Journal Article
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