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Korinthenberg, Rudolf [Author]; Panteliadis, Christos P. [Author]; Hagel, Christian [Author]; Dulz, Simon [Author]; Friedrich, Reinhard E. [Author]; Hornung, Dagmar [Author]; Kammler, Gertrud [Author]; Kohlschütter, Alfried [Author]; Kordes, Uwe [Author]; Linhart, Dieter [Author]; Löbel, Ulrike [Author]; Mautner, Victor Felix [Author]; Mehlan, Juliane [Author]; Muschol, Nicole [Author]; Rutkowski, Stefan [Author]; Schüller, Ulrich [Author]; Schüttauf, Frank [Author]; Spitzer, Martin [Author] ; Korinthenberg, Rudolf [Editor]; Panteliadis, Christos P. [Editor]; Hagel, Christian [Editor] Elsevier Urban & Fischer

Neuropädiatrie : evidenzbasierte Therapie - [3. Auflage]

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München: Elsevier, 2020
Pantel, Tobias [Author]; Lindschau, Mona [Author]; Luebke, Andreas M. [Author]; Kunkel, Philip Oskar Sean [Author]; Dreimann, Marc [Author]; Muschol, Nicole [Author]; Eicker, Sven O. [Author]

Spinal cord compression in patients with mucopolysaccharidosis

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https://link.springer.com/article/10.1007/s00586-022-07168-0

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10 March 2022

Published in: European spine journal ; 31(2022), 7, Seite 1693-1699
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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https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.27196

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2021

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

Die Grenzen der Enzymersatztherapien sprengen

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Springer Science and Business Media LLC, 2021

Published in: Pädiatrie
Muschol, Nicole; Aries, Charlotte

Neue Therapien bei lysosomalen Speicherkrankheiten : Die Grenzen der Enzymersatztherapien sprengen : Die Grenzen der Enzymersatztherapien sprengen

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Springer Science and Business Media LLC, 2021

Published in: Pädiatrie & Pädologie
Johannsen, Jessika; Muschol, Nicole; Schulz, Angela; Denecke, Jonas

EEG Scoring in Degenerative Brain Diseases of Childhood: The Pediatric Neurodegeneration EEG Scoring (PNES)

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Georg Thieme Verlag KG, 2019

Published in: Neuropediatrics
Bäumer, Tobias; Bühring, Nina; Schelle, Thomas; Münchau, Alexander; Muschol, Nicole

Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis

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Wiley, 2016

Published in: Developmental Medicine & Child Neurology
Aries, Charlotte; Lohmöller, Benjamin; Tiede, Stephan; Täuber, Karolin; Hartmann, Guido; Rudolph, Cornelia; Muschol, Nicole

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

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Frontiers Media SA, 2022

Published in: Frontiers in Neurology
Pantel, Tobias; Lindschau, Mona; Luebke, Andreas M.; Kunkel, Philip; Dreimann, Marc; Muschol, Nicole; Eicker, Sven O.

Spinal cord compression in patients with mucopolysaccharidosis

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Springer Science and Business Media LLC, 2022

Published in: European Spine Journal
Giugliani, Roberto; Muschol, Nicole; Keenan, Hillary A.; Dant, Mark; Muenzer, Joseph

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I

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BMJ, 2021

Published in: Archives of Disease in Childhood
Atiskova, Yevgeniya; Wildner, Jan; Spitzer, Martin Stephan; Aries, Charlotte; Muschol, Nicole; Dulz, Simon

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

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Springer Science and Business Media LLC, 2021

Published in: Orphanet Journal of Rare Diseases
Katja, Kloth; Inga, Vater; Ramona, Lindschau; Rau, Isabella; Almuth, Caliebe; Maria, Muschol Nicole

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

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Elsevier BV, 2020

Published in: Molecular Genetics and Metabolism Reports
Shapiro, Elsa; Lourenço, Charles Marques; Mungan, Neslihan Onenli; Muschol, Nicole; O’Neill, Cara; Vijayaraghavan, Suresh

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

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Springer Science and Business Media LLC, 2019

Published in: Orphanet Journal of Rare Diseases
Koehne, Till; Köhn, Anja; Friedrich, Reinhard E.; Kordes, Uwe; Schinke, Thorsten; Muschol, Nicole; Kahl-Nieke, Bärbel

Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study

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Springer Science and Business Media LLC, 2018

Published in: Clinical Oral Investigations
Breyer, Sandra R.; Muschol, Nicole; Schmidt, Mona; Rupprecht, Martin; Babin, Kornelia; Herrmann, Jochen; Stücker, Ralf

Hip Morphology in MPS-1H Patients: An MRI-based Study

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Ovid Technologies (Wolters Kluwer Health), 2018

Published in: Journal of Pediatric Orthopaedics
Loso, Jefferson; Lund, Natalie; Avanesov, Maxim; Muschol, Nicole; Lezius, Susanne; Cordts, Kathrin; Schwedhelm, Edzard; Patten, Monica

Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy

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Frontiers Media SA, 2018

Published in: Frontiers in Cardiovascular Medicine
Schmidt, Mona; Breyer, Sandra; Löbel, Ulrike; Yarar, Sinef; Stücker, Ralf; Ullrich, Kurt; Müller, Ingo; Muschol, Nicole

Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation

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Springer Science and Business Media LLC, 2016

Published in: Orphanet Journal of Rare Diseases
Muschol, Nicole; Pohl, Sandra; Meyer, Ann; Gal, Andreas; Ullrich, Kurt; Braulke, Thomas

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

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Wiley, 2011

Published in: American Journal of Medical Genetics Part A
Pohl, Sandra; Encarnacão, Marisa; Castrichini, Monica; Müller‐Loennies, Sven; Muschol, Nicole; Braulke, Thomas

Loss of N‐acetylglucosamine‐1‐phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics

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Wiley, 2010

Published in: American Journal of Medical Genetics Part A
Meyer, Ann; Kossow, Kai; Gal, Andreas; Steglich, Cordula; Mühlhausen, Chris; Ullrich, Kurt; Braulke, Thomas; Muschol, Nicole

The Mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A Syndrome)

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Hindawi Limited, 2008

Published in: Human Mutation

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