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  1. Cossel, Katharina von [Author]; Muschol, Nicole [Author]; Friedrich, Reinhard E. [Author]; Glatzel, Markus [Author]; Ammer, Luise [Author]; Lohmöller, Benjamin [Author]; Bendszus, Martin [Author]; Mautner, Victor Felix [Author]; Godel, Tim [Author]

    Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y

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    2021

    Published in: Muscle & nerve ; 63(2021), 5, Seite 745-750

  2. Breyer, Sandra Rafaela; Vettorazzi, Eik; Schmitz, Leonie; Gulati, Amit; von Cossel, Katharina Maria; Spiro, Alexander; Rupprecht, Martin; Stuecker, Ralf; Muschol, Nicole Maria

    Hip pathologies in mucopolysaccharidosis type III

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    Springer Science and Business Media LLC, 2021

    Published in: Journal of Orthopaedic Surgery and Research

  3. Nicole Muschol; Anja Koehn; Katharina von Cossel; Ilyas Okur; Fatih Ezgu; Paul Harmatz; Maria J. de Castro Lopez; Maria Luz Couce; Shuan-Pei Lin; Spyros Batzios; Maureen Cleary; Martha Solano; Igor Nestrasil; Brian Kaufman; Adam J. Shaywitz; Stephen M. Maricich; Bernice Kuca; Joseph Kovalchin; Eric Zanelli

    A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

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    2023

    Published in: The Journal of Clinical Investigation

  4. Muschol, Nicole; Koehn, Anja; von Cossel, Katharina; Okur, Ilyas; Ezgu, Fatih; Harmatz, Paul; de Castro Lopez, Maria J.; Couce, Maria Luz; Lin, Shuan-Pei; Batzios, Spyros; Cleary, Maureen; Solano, Martha; Nestrasil, Igor; Kaufman, Brian; Shaywitz, Adam J.; Maricich, Stephen M.; Kuca, Bernice; Kovalchin, Joseph; Zanelli, Eric

    A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

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    American Society for Clinical Investigation, 2023

    Published in: Journal of Clinical Investigation

  5. Fabian Braun; Ahmed Abed; Dominik Sellung; Manuel Rogg; Mathias Woidy; Oysten Eikrem; Nicola Wanner; Jessica Gambardella; Sandra D. Laufer; Fabian Haas; Milagros N. Wong; Bernhard Dumoulin; Paula Rischke; Anne Mühlig; Wiebke Sachs; Katharina von Cossel; Kristina Schulz; Nicole Muschol; Sören W. Gersting; Ania C. Muntau; Oliver Kretz; Oliver Hahn; Markus M. Rinschen; Michael Mauer; [...]

    Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

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    2023

    Published in: The Journal of Clinical Investigation

  6. Braun, Fabian; Abed, Ahmed; Sellung, Dominik; Rogg, Manuel; Woidy, Mathias; Eikrem, Oysten; Wanner, Nicola; Gambardella, Jessica; Laufer, Sandra D.; Haas, Fabian; Wong, Milagros N.; Dumoulin, Bernhard; Rischke, Paula; Mühlig, Anne; Sachs, Wiebke; von Cossel, Katharina; Schulz, Kristina; Muschol, Nicole; Gersting, Sören W.; Muntau, Ania C.; Kretz, Oliver; Hahn, Oliver; Rinschen, Markus M.; Mauer, Michael; [...]

    Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

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    American Society for Clinical Investigation, 2023

    Published in: Journal of Clinical Investigation