Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Katharina, von Cossel"'
Autor:
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, Tillmann Bork, Florian Grahammer, Wei Liang, Thorsten Eierhoff, Winfried Römer, Arne Hansen, Catherine Meyer-Schwesinger, Guido Iaccarino, Camilla Tøndel, Hans-Peter Marti, Behzad Najafian, Victor G. Puelles, Christoph Schell, Tobias B. Huber
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 11 (2023)
Current therapies for Fabry disease are based on reversing intracellular accumulation of globotriaosylceramide (Gb3) by enzyme replacement therapy (ERT) or chaperone-mediated stabilization of the defective enzyme, thereby alleviating lysosomal dysfun
Externí odkaz:
https://doaj.org/article/c82d0427278d4ae092a98644e9de535c
Autor:
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
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 2 (2023)
Background Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding alfa-N-acetyl-glucosaminidase. Enzyme replacement therap
Externí odkaz:
https://doaj.org/article/3ded75f715844309990af3452c9afcb6
Autor:
Tim Godel, Katharina von Cossel, Reinhard E. Friedrich, Markus Glatzel, Sima Canaan-Kühl, Thomas Duning, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Nicole Muschol, Victor-Felix Mautner
Publikováno v:
Diagnostics, Vol 10, Iss 12, p 1027 (2020)
The purpose of this study is to examine alterations of the peripheral nervous system (PNS) in oligo-symptomatic patients carrying the Fabry related GLA-gene variant p.A143T by Magnetic Resonance Neurography (MRN) and skin biopsy. This prospective stu
Externí odkaz:
https://doaj.org/article/37ba789758d7418cbfe7ad32ca85c46e
Autor:
Nicole, Muschol, Anja, Koehn, Katharina, von Cossel, Ilyas, Okur, Fatih, Ezgu, Paul, Harmatz, Maria Jose, de Castro Lopez, Maria Luz, Couce, Shuan-Pei, Lin, Spyros, Batzios, Maureen, Cleary, Martha, Solano, Igor, Nestrasil, Brian D, Kaufman, Adam J, Shaywitz, Stephen M, Maricich, Bernice, Kuca, Joseph, Kovalchin, Eric H, Zanelli
Publikováno v:
The Journal of clinical investigation.
Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding for alfa-N-acetyl-glucosaminidase. Enzyme replacement therapy for n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ba973441d24cec11806948a9a8f39f70
https://pubmed.ncbi.nlm.nih.gov/36413418
https://pubmed.ncbi.nlm.nih.gov/36413418
Autor:
Benjamin Lohmöller, Tim Godel, Reinhard E Friedrich, Katharina von Cossel, Martin Bendszus, Nicole Muschol, Markus Glatzel, Luise Ammer, Victor-Felix Mautner
Publikováno v:
Muscle & Nerve. 63:745-750
Introduction The pathophysiological significance of the Fabry-related, non-classical variant p.D313Y still remains to be solved. This study assesses the involvement of the peripheral nervous system with respect to small fiber neuropathy and neuropath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f79cc51c048deebb2a128a9dd4d48f87
https://doi.org/10.1002/mus.27196
https://doi.org/10.1002/mus.27196
Autor:
Sandra Breyer, Eik Vettorazzi, Katharina von Cossel, Alexander S Spiro, Leonie Schmitz, Ralf Stuecker, Amit Gulati, Martin Rupprecht, Nicole Muschol
Publikováno v:
Journal of Orthopaedic Surgery and Research
Journal of Orthopaedic Surgery and Research, Vol 16, Iss 1, Pp 1-8 (2021)
Journal of Orthopaedic Surgery and Research, Vol 16, Iss 1, Pp 1-8 (2021)
Background Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although musculoskeletal symptoms are less pronounced than in other MPS subtypes, pathologies of hip and spine have been reported in MPS III pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e8dbb8986541e06cdf4729ccd1c2b44
https://doi.org/10.1186/s13018-021-02340-6
https://doi.org/10.1186/s13018-021-02340-6
Autor:
María L. Couce, Spyros Batzios, Joseph Kovalchin, Joy Lee, İlyas Okur, Heidi Peters, Paul Harmatz, Hernan Amartino, Shaun-Pei Lin, Fatih Süheyl Ezgü, Katharina von Cossel, Eric Zanelli, Roberto Giugliani, Stephen M. Maricich, Maureen Cleary, Maria Jose de Castro Lopez, Martha Solano, Nicole Muschol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb612a9b1266af785f0636ee94ab5d24
https://avesis.gazi.edu.tr/publication/details/4b19acca-0fdf-4f93-aafe-7b580220604e/oai
https://avesis.gazi.edu.tr/publication/details/4b19acca-0fdf-4f93-aafe-7b580220604e/oai
Autor:
Moritz Kronlage, Tim Godel, Sima Canaan-Kühl, Thomas Duning, Sabine Heiland, Martin Bendszus, Markus Glatzel, Victor-Felix Mautner, Nicole Muschol, Reinhard E Friedrich, Katharina von Cossel
Publikováno v:
Diagnostics, Vol 10, Iss 1027, p 1027 (2020)
Diagnostics; Volume 10; Issue 12; Pages: 1027
Diagnostics; Volume 10; Issue 12; Pages: 1027
Background The purpose of this study is to examine alterations of the peripheral nervous system (PNS) in oligo-symptomatic patients carrying the Fabry related GLA-gene variant p.A143T by Magnetic Resonance Neurography (MRN) and skin biopsy. This pros
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48d2a2652e6a04ac469351a5280eaeb6
https://doi.org/10.3390/diagnostics10121027
https://doi.org/10.3390/diagnostics10121027