Zobrazeno 1 - 10
of 223
pro vyhledávání: '"Nicole Muschol"'
Autor:
Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, potentially fatal lysosomal storage disease that exhibits a broad spectrum of clinical phenotypes. There is a need to expand the knowledge of disease mortality and mo
Externí odkaz:
https://doaj.org/article/fcc6da70d48a42ef99aa9804b681ca4a
Autor:
Can Ficicioglu, Nicole Muschol, Barbara Burton, Martin Magner, Mercedes Gil-Campos, Monica Lopez Rodriguez, Parul Jayakar, Allan Lund, Galit Tal, Jose Elias Garcia-Ortiz, Karolina Stepien, Carolyn Ellaway, Walla Al-Hertani, Roberto Giugliani, Sara Cathey, Julia Hennermann, Christina Lampe, Markey McNutt, Florian Lagler, Maurizio Scarpa, Vernon Sutton, Nathalie Guffon
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101385- (2024)
Externí odkaz:
https://doaj.org/article/dc3764e5ff4e49c6bda982c9b948cc22
Autor:
Maxim Avanesov, Anahid Asgari, Nicole Muschol, Anja Friederike Köhn, Enver Tahir, Gerhard Adam, Paulus Kirchhof, Gunnar Lund, Ersin Cavus, Monica Patten
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Cardiac manifestation of classical Fabry disease (cFD) varies with sex and presence of left ventricular hypertrophy. p.D313Y/p.A143T variants (vFD) represent milder late-onset phenotypes, however, data on vFD are scarce. Patients with FD (cF
Externí odkaz:
https://doaj.org/article/753f8d0b14284110b820fe30a852107e
Autor:
Nicole Muschol, Roberto Giugliani, Simon A. Jones, Joseph Muenzer, Nicholas J. C. Smith, Chester B. Whitley, Megan Donnell, Elise Drake, Kristina Elvidge, Lisa Melton, Cara O’Neill, MPS III Guideline Development Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-23 (2022)
Abstract Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological decline and multisy
Externí odkaz:
https://doaj.org/article/a5ad5c79ef39448c83fadab522d1e902
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:
Sally Lanar, Samantha Parker, Cara O’Neill, Alexia Marrel, Benoit Arnould, Bénédicte Héron, Nicole Muschol, Frits A. Wijburg, Anupam Chakrapani, Sophie Olivier, Karen Aiach
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background MPS IIIA is a rare, degenerative pediatric genetic disease characterized by symptoms impacting cognition, mobility and behavior; the mean age of death is around 15 years of age. Currently, there are no approved therapies for MPS I
Externí odkaz:
https://doaj.org/article/13f5855d754b4424a5c8cc19369ada71
Autor:
Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100014- (2023)
Externí odkaz:
https://doaj.org/article/1bae87a6f6674e5dbe3f38584fe8b2dc
Autor:
Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100003- (2023)
Externí odkaz:
https://doaj.org/article/48842969715f4642b3ff6e32e3b9c66b
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:
Yevgeniya Atiskova, Jan Wildner, Martin Stephan Spitzer, Charlotte Aries, Nicole Muschol, Simon Dulz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Purpose The aim of this case control study was to evaluate the prognostic value of automatically quantified retinal vessel tortuosity from fundus images and vessel density from OCT-A in Fabry disease and to evaluate the correlation of these
Externí odkaz:
https://doaj.org/article/e30d04021ccf4b299d8990bb1dc3f90f