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Author/Creator Kohlschmidt, Nicolai

1. Clinical presentation and proteomic signature of patients with TANGO2 mutations. Issue 2 (13th August 2019)

Authors:
Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angel...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 2(2020)
Page Start:
297
Record Type:
Journal Article
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3. Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease. Issue 4 (16th February 2022)

Authors:
Gangfuß, Andrea; Hentschel, Andreas; Rademacher, Nina; Sickmann, Albert; Stüve, Burkhard; Horvath, Rita; Gross, Claudia; Kohlschmidt, Nicolai; Förster, Fabian; Abicht, Angela; Schänzer, Anne; Schara‐Schmidt, Ulrike; Roos, Andreas; Della Marina, Adela
Journal:
Human mutation
Issue:
Volume 43:Issue 4(2022)
Page Start:
477
Record Type:
Journal Article
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4. Molecular pathophysiology of human MICU1 deficiency. (22nd February 2021)

Authors:
Kohlschmidt, Nicolai; Elbracht, Miriam; Czech, Artur; Häusler, Martin; Phan, Vietxuan; Töpf, Ana; Huang, Kai‐Ting; Bartok, Adam; Eggermann, Katja; Zippel, Stephanie; Eggermann, Thomas; Freier, Erik; Groß, Claudia; Lochmüller, Hanns; Horvath, Rita; Hajnóczky, György; Weis, Joachim; Roos, Andreas
Journal:
Neuropathology & applied neurobiology
Issue:
Volume 47:Number 6(2021)
Page Start:
840
Record Type:
Journal Article
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