Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease

by Yevgeniya Atiskova, Jan Wildner, Martin Stephan Spitzer, Charlotte Aries, Nicole Muschol, Simon Dulz
Published 2021-11-01

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

by Elsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, Nicole Muschol, Cara O’Neill, Suresh Vijayaraghavan
Published 2019-07-01

P004: Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE Registry

by Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann
Published 2023-01-01

O02: Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE Registry*

by Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann
Published 2023-01-01

Retinal hyperreflective foci in Fabry disease

by Yevgeniya Atiskova, Rahman Rassuli, Anja Friederike Koehn, Amir Golsari, Lars Wagenfeld, Marcel du Moulin, Nicole Muschol, Simon Dulz
Published 2019-12-01

Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2

by Charlotte Aries, Benjamin Lohmöller, Stephan Tiede, Stephan Tiede, Karolin Täuber, Karolin Täuber, Guido Hartmann, Cornelia Rudolph, Nicole Muschol
Published 2022-06-01

Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain

by Maxim Avanesov, Anahid Asgari, Nicole Muschol, Anja Friederike Köhn, Enver Tahir, Gerhard Adam, Paulus Kirchhof, Gunnar Lund, Ersin Cavus, Monica Patten
Published 2023-04-01

Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy

by Jefferson Loso, Natalie Lund, Maxim Avanesov, Nicole Muschol, Susanne Lezius, Kathrin Cordts, Kathrin Cordts, Edzard Schwedhelm, Edzard Schwedhelm, Monica Patten, Monica Patten
Published 2018-08-01

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach

by Sally Lanar, Samantha Parker, Cara O’Neill, Alexia Marrel, Benoit Arnould, Bénédicte Héron, Nicole Muschol, Frits A. Wijburg, Anupam Chakrapani, Sophie Olivier, Karen Aiach
Published 2022-02-01

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

by Amir Jahic, Sven Günther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz
Published 2019-09-01

Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI

by Rohit Nagpal, Gina Georgi, Sarah Knauth, Carmen Schmid-Herrmann, Nicole Muschol, Thomas Braulke, Bärbel Kahl-Nieke, Michael Amling, Thorsten Schinke, Till Koehne, Julian Petersen
Published 2022-09-01

A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany

by 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
Published 2024-04-01

Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related <i>GLA</i>-Variant p.A143T

by 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
Published 2020-11-01

Sanfilippo syndrome: consensus guidelines for clinical care

by 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
Published 2022-10-01

Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks

by Marsha Treadwell, Paul R. Harmatz, Barbara K. Burton, John J. Mitchell, Nicole Muschol, Simon A. Jones, Gregory M. Pastores, Heather A. Lau, Rebecca Sparkes, V. Reid Sutton, Bianca Meesen, Christine A. Haller, Adam J. Shaywitz, Jeffrey I. Gold
Published 2017-07-01

Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III

by Maria Escolar, Jessica Bradshaw, Valerie Tharp Byers, Roberto Giugliani, Lynn Golightly, Charles Marques Lourenço, Kimberly McDonald, Nicole Muschol, Imogen Newsom-Davis, Cara O’Neill, Holly L. Peay, Jennifer Siedman, Martha L. Solano, Tessa Wirt, Tim Wood, Lonnie Zwaigenbaum
Published 2020-06-01

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

by 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
Published 2023-01-01

P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

by 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
Published 2024-01-01

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

by 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
Published 2023-06-01