PD Dr.med. ID: 48191
Nicole Maria Muschol
Publications
- 2024
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
Pfrimmer, C., Smitka, M., Muschol, N., Husain, R. A., Huemer, M., Hennermann, J. B., Schuler, R. & Hahn, A., 2024, In: J NEUROMUSCULAR DIS. 11, 1, p. 167-177 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2023
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study
Guffon, N., Konstantopoulou, V., Hennermann, J. B., Muschol, N., Bruno, I., Tummolo, A., Ceravolo, F., Zardi, G., Ballabeni, A. & Lund, A., 07.2023, In: J INHERIT METAB DIS. 46, 4, p. 705-719 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
Ammer, L. S., Täuber, K., Perez, A., Dohrmann, T., Denecke, J., Santer, R., Blümlein, U., Ozga, A-K., Pohl, S. & Muschol, N. M., 18.06.2023, In: J CLIN MED. 12, 12, 4114.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy
Braun, F., Abed, A., Sellung, D., Rogg, M., Woidy, M., Eikrem, O., Wanner, N., Gambardella, J., Laufer, S. D., Haas, F., Wong, M. N., Dumoulin, B., Rischke, P., Mühlig, A. K., Sachs, W., von Cossel, K., Schulz, K., Muschol, N., Gersting, S. W., Muntau, A. C., Kretz, O., Hahn, O., Rinschen, M. M., Mauer, M., Bork, T., Grahammer, F., Liang, W., Eierhoff, T., Römer, W., Hansen, A., Meyer-Schwesinger, C., Iaccarino, G., Tøndel, C., Marti, H-P., Najafian, B., Puelles, V. G., Schell, C. & Huber, T. B., 01.06.2023, In: J CLIN INVEST. 133, 11, e157782.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain
Avanesov, M., Asgari, A., Muschol, N., Köhn, A. F., Tahir, E., Adam, G., Kirchhof, P., Lund, G., Cavus, E. & Patten, M., 10.04.2023, In: SCI REP-UK. 13, 1, p. 5809Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic
Niederau, C., Regenbogen, C., Fruehauf, H-M., Merkel, M., Ziagaki, A., Mengel, E., Baerwald, C., Muschol, N., Staufner, C., Lampe, C., Gillessen, A., Koehler, J. P. & Vom Dahl, S., 04.2023, In: Z GASTROENTEROL. 61, 4, p. 375-380 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Effects of Infantile Hypophosphatasia on Human Dental Tissue
Wölfel, E. M., von Kroge, S., Matthies, L., Köhne, T., Petz, K., Beikler, T., Schmid-Herrmann, C., Kahl-Nieke, B., Tsiakas, K., Santer, R., Muschol, N. M., Herrmann, J., Busse, B., Amling, M., Rolvien, T., Jandl, N. M. & Barvencik, F., 03.2023, In: CALCIFIED TISSUE INT. 112, 3, p. 308-319 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene
Förster, L., Tiede, S., Rudolph, C. & Muschol, N. M., 02.2023, In: MOL GENET METAB. 138, 2, 107104.Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B
Muschol, N., Koehn, A., von Cossel, K., Okur, I., Ezgu, F., Harmatz, P., de Castro Lopez, M. J., Couce, M. L., Lin, S-P., Batzios, S., Cleary, M., Solano, M., Nestrasil, I., Kaufman, B., Shaywitz, A. J., Maricich, S. M., Kuca, B., Kovalchin, J. & Zanelli, E., 17.01.2023, In: J CLIN INVEST. 133, 2, e165076.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2022
Sanfilippo syndrome: consensus guidelines for clinical care
Muschol, N., Giugliani, R., Jones, S. A., Muenzer, J., Smith, N. J. C., Whitley, C. B., Donnell, M., Drake, E., Elvidge, K., Melton, L., O'Neill, C. & MPS III Guideline Development Group, 27.10.2022, In: ORPHANET J RARE DIS. 17, 1, p. 391Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB
Okur, I., Ezgu, F., Giugliani, R., Muschol, N., Koehn, A., Amartino, H., Harmatz, P., de Castro Lopez, M. J., Couce, M. L., Lin, S-P., Batzios, S., Cleary, M., Solano, M., Peters, H., Lee, J., Nestrasil, I., Shaywitz, A. J., Maricich, S. M., Kuca, B., Kovalchin, J. & Zanelli, E., 10.2022, In: J PEDIATR-US. 249, p. 50-58.e2 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mandibular condyle morphology among patients with mucopolysaccharidosis: an observational study of panoramic radiographs
Schmid-Herrmann, C. U., Muschol, N., Fuhrmann, V., Koehn, A. F., Lezius, S., Kahl-Nieke, B. & Koehne, T., 09.2022, In: INT J PAEDIATR DENT. 32, 5, p. 737-744 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Spinal cord compression in patients with mucopolysaccharidosis
Pantel, T., Lindschau, M., Luebke, A. M., Kunkel, P., Dreimann, M., Muschol, N. & Eicker, S. O., 07.2022, In: EUR SPINE J. 31, 7, p. 1693-1699 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients
Ammer, L. S., Muschol, N. M., Santer, R., Lang, A., Breyer, S. R., Sasu, P. B., Petzoldt, M. & Dohrmann, T., 24.06.2022, In: J CLIN MED. 11, 13, 3650.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2
Aries, C., Lohmöller, B., Tiede, S., Täuber, K., Hartmann, G., Rudolph, C. & Muschol, N. M., 06.06.2022, In: FRONT NEUROL. 13, p. 907317Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS)
Lenders, M., Nordbeck, P., Kurschat, C., Eveslage, M., Karabul, N., Kaufeld, J., Hennermann, J. B., Patten, M., Cybulla, M., Müntze, J., Üçeyler, N., Liu, D., Das, A. M., Sommer, C., Pogoda, C., Reiermann, S., Duning, T., Gaedeke, J., von Cossel, K., Blaschke, D., Brand, S-M., Alexander Mann, W., Kampmann, C., Muschol, N., Canaan-Kühl, S. & Brand, E., 05.2022, In: EUR HEART J-CARD PHA. 8, 3, p. 272–281Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
Lanar, S., Parker, S., O'Neill, C., Marrel, A., Arnould, B., Héron, B., Muschol, N., Wijburg, F. A., Chakrapani, A., Olivier, S. & Aiach, K., 22.02.2022, In: ORPHANET J RARE DIS. 17, 1, p. 75Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
Wijburg, F. A., Aiach, K., Chakrapani, A., Eisengart, J. B., Giugliani, R., Héron, B., Muschol, N., O'Neill, C., Olivier, S. & Parker, S., 02.2022, In: MOL GENET METAB. 135, 2, p. 133-142 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
Holzwarth, J., Minopoli, N., Pfrimmer, C., Smitka, M., Borrel, S., Kirschner, J., Muschol, N., Hartmann, H., Hennermann, J. B., Neubauer, B. A., Hobbiebrunken, E., Husain, R. & Hahn, A., 02.2022, In: NEUROPEDIATRICS. 53, 1, p. 39-45 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Combination of high-dose ambroxol and ERT in Gaucher disease type 2: A nearly age-appropriate neurocognitive and motor development after three years of treatment
Aries, C., Lohmöller, B., Tiede, S., Täuber, K., Rudolph, C. & Muschol, N., 02.2022, In: MOL GENET METAB. 135, 2, S19.Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium
Ditters, I. A. M., Huidekoper, H. H., Kruijshaar, M. E., Rizopoulos, D., Hahn, A., Mongini, T. E., Labarthe, F., Tardieu, M., Chabrol, B., Brassier, A., Parini, R., Parenti, G., van der Beek, N. A. M. E., van der Ploeg, A. T., van den Hout, J. M. P. & European Pompe Consortium project group on classic infantile Pompe disease, 01.2022, In: LANCET CHILD ADOLESC. 6, 1, p. 28-37 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI
Nagpal, R., Georgi, G., Knauth, S., Schmid-Herrmann, C., Muschol, N., Braulke, T., Kahl-Nieke, B., Amling, M., Schinke, T., Koehne, T. & Petersen, J., 2022, In: FRONT PHYSIOL. 13, 998039.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2021
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Di Lorenzo, G., Westermann, L. M., Schinke, T., Stürznickel, J., Ludwig, N. F., Ammer, L. S., Baranowsky, A., Ahmadi, S., Pourbarkhordariesfandabadi, E., Breyer, S. R., Board, T. N., Foster, A., Mercer, J., Tylee, K., Velho, R. V., Schweizer, M., Renné, T., Braulke, T., Randon, D. N., Sperb-Ludwig, F., de Camargo Pinto, L. L., Moreno, C. A., Cavalcanti, D. P., Amling, M., Kutsche, K., Winter, D., Muschol, N. M., Schwartz, I. V. D., Rolvien, T., Danyukova, T., Schinke, T. & Pohl, S., 12.2021, In: GENET MED. 23, 12, p. 2369-2377 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease
Atiskova, Y., Wildner, J., Spitzer, M. S., Aries, C., Muschol, N. & Dulz, S., 20.11.2021, In: ORPHANET J RARE DIS. 16, 1, 485.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications-A Retrospective Analysis of 99 Patients
Ammer, L. S., Dohrmann, T., Muschol, N. M., Lang, A., Breyer, S. R., Ozga, A-K. & Petzoldt, M., 10.08.2021, In: J CLIN MED. 10, 16, p. 3518Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
Wijburg, F. A., Whitley, C. B., Muenzer, J., Gasperini, S., Del Toro, M., Muschol, N., Cleary, M., Sevin, C., Shapiro, E. & Alexanderian, D., 13.07.2021, In: MOL GENET METAB. 134, 1-2, p. 175-181 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I
Giugliani, R., Muschol, N., Keenan, H. A., Dant, M. & Muenzer, J., 07.2021, In: ARCH DIS CHILD. 106, 7, p. 674-679 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mucolipidosis type II and type III: a systematic review of 843 published cases
Dogterom, E. J., Wagenmakers, M. A. E. M., Wilke, M., Demirdas, S., Muschol, N. M., Pohl, S., van der Meijden, J. C., Rizopoulos, D., van der Ploeg, A. T. & Oussoren, E., 25.06.2021, In: GENET MED. 23, 11, p. 2047-2056 10 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y
Cossel, K. V., Muschol, N., Friedrich, R. E., Glatzel, M., Ammer, L., Lohmöller, B., Bendszus, M., Mautner, V-F. & Godel, T., 05.2021, In: MUSCLE NERVE. 63, 5, p. 745-750 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hip pathologies in mucopolysaccharidosis type III
Breyer, S. R., Vettorazzi, E., Schmitz, L., Gulati, A., von Cossel, K. M., Spiro, A., Rupprecht, M., Stuecker, R. & Muschol, N. M., 19.03.2021, In: J ORTHOP SURG RES. 16, 1, 201.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
Ammer, L. S., Pohl, S., Breyer, S. R., Aries, C., Denecke, J., Perez, A., Petzoldt, M., Schrum, J., Müller, I. & Muschol, N. M., 03.2021, In: MOL GENET METAB REP. 26, 100704.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2020
Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
Kloth, K., Vater, I., Lindschau, R., Rau, I., Caliebe, A. & Muschol, N. M., 12.2020, In: MOL GENET METAB REP. 25, 100660.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related GLA-Variant p.A143T
Godel, T., V Cossel, K., Friedrich, R. E., Glatzel, M., Canaan-Kühl, S., Duning, T., Kronlage, M., Heiland, S., Bendszus, M., Muschol, N. & Mautner, V-F., 30.11.2020, In: DIAGNOSTICS. 10, 12Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
Hennermann, J. B., Guffon, N., Cattaneo, F., Ceravolo, F., Borgwardt, L., Lund, A. M., Gil-Campos, M., Tylki-Szymanska, A. & Muschol, N. M., 29.09.2020, In: ORPHANET J RARE DIS. 15, 1, p. 271Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints
van der Lee, J. H., Morton, J., Adams, H. R., Clarke, L., Eisengart, J. B., Escolar, M. L., Giugliani, R., Harmatz, P., Hogan, M., Kearney, S., Muenzer, J., Muschol, N., Rust, S., Saville, B. R., Semrud-Clikeman, M., Wang, R. & Shapiro, E., 13.09.2020, In: MOL GENET METAB. 131, 1-2, p. 181-196 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)
Lenders, M., Nordbeck, P., Kurschat, C., Karabul, N., Kaufeld, J., Hennermann, J. B., Patten, M., Cybulla, M., Müntze, J., Üçeyler, N., Liu, D., Das, A. M., Sommer, C., Pogoda, C., Reiermann, S., Duning, T., Gaedeke, J., Stumpfe, K., Blaschke, D., Brand, S-M., Mann, W. A., Kampmann, C., Muschol, N., Canaan-Kühl, S. & Brand, E., 08.2020, In: CLIN PHARMACOL THER. 108, 2, p. 326-337 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group
Köhn, A. F., Grigull, L., du Moulin, M., Kabisch, S., Ammer, L., Rudolph, C. & Muschol, N. M., 06.2020, In: MOL GENET METAB REP. 23, p. 100578Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Enzyme replacement therapy in mice lacking arylsulfatase B targets bone remodeling cells, but not chondrocytes
Hendrickx, G., Danyukova, T., Baranowsky, A., Rolvien, T., Angermann, A., Schweizer, M., Keller, J., Schröder, J., Meyer-Schwesinger, C., Muschol, N., Paganini, C., Rossi, A., Amling, M., Pohl, S. & Schinke, T., 27.03.2020, In: HUM MOL GENET. 29, 5, p. 803-816 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hip Morphology in Mucolipidosis Type II
Ammer, L. S., Oussoren, E., Muschol, N. M., Pohl, S., Rubio-Gozalbo, M. E., Santer, R., Stücker, R., Vettorazzi, E. & Breyer, S., 08.03.2020, In: J CLIN MED. 9, 3, p. E728Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Diagnosis and Care of Infants and Children with Pompe Disease
Hahn, A., Hennermann, J. B., Huemer, M., Kampmann, C., Marquardt, T., Mengel, E., Müller-Felber, W., Muschol, N. M., Rohrbach, M. & Stehling, F., 18.02.2020, In: KLIN PADIATR. 232, 02, p. 55-61 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: a retrospective cohort study
Dohrmann, T., Muschol, N. M., Sehner, S., Punke, M. A., Haas, S. A., Roeher, K., Breyer, S., Koehn, A. F., Ullrich, K., Zöllner, C. & Petzoldt, M., 02.2020, In: PEDIATR ANESTH. 30, 2, p. 181-190 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2019
Retinal hyperreflective foci in Fabry disease
Atiskova, Y., Rassuli, R., Koehn, A. F., Golsari, A., Wagenfeld, L., du Moulin, M., Muschol, N. & Dulz, S., 26.12.2019, In: ORPHANET J RARE DIS. 14, 1, p. 296Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation
Koehne, T., Müller-Stöver, S., Köhn, A., Stumpfe, K., Lezius, S., Schmid, C., Lukacs, Z., Kahl-Nieke, B. & Muschol, N., 12.2019, In: SLEEP BREATH. 23, 4, p. 1315-1321 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay
Jahic, A., Günther, S., Muschol, N., Fossøy Stadheim, B., Braaten, Ø., Kjensli Hyldebrandt, H., Kuiper, G-A., Tylee, K., Wijburg, F. A. & Beetz, C., 09.2019, In: MOL GENET GENOM MED. 7, 9, p. e00615Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data
Shapiro, E., Lourenço, C. M., Mungan, N. O., Muschol, N., O'Neill, C. & Vijayaraghavan, S., 08.07.2019, In: ORPHANET J RARE DIS. 14, 1, p. 168Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations
Velho, R. V., Harms, F. L., Danyukova, T., Ludwig, N. F., Friez, M. J., Cathey, S. S., Filocamo, M., Tappino, B., Güneş, N., Tüysüz, B., Tylee, K. L., Brammeier, K. L., Heptinstall, L., Oussoren, E., van der Ploeg, A. T., Petersen, C., Alves, S., Saavedra, G. D., Schwartz, I. V., Muschol, N., Kutsche, K. & Pohl, S., 07.2019, In: HUM MUTAT. 40, 7, p. 842-864 23 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y
Godel, T., Bäumer, P., Stumpfe, K., Muschol, N., Kronlage, M., Brunnée, M., Kollmer, J., Heiland, S., Bendszus, M. & Mautner, V-F., 06.2019, In: J NEUROL. 266, 6, p. 1332-1339 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
Muschol, N. M., Pape, D., Kossow, K., Ullrich, K., Arash-Kaps, L., Hennermann, J. B., Stücker, R. & Breyer, S., 02.05.2019, In: ORPHANET J RARE DIS. 14, 1, p. 93Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial
Wijburg, F. A., Whitley, C. B., Muenzer, J., Gasperini, S., Del Toro, M., Muschol, N., Cleary, M., Sevin, C., Shapiro, E., Bhargava, P., Kerr, D. & Alexanderian, D., 02.2019, In: MOL GENET METAB. 126, 2, p. 121-130 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2018
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover
Pohl, S., Angermann, A., Jeschke, A., Hendrickx, G., Yorgan, T. A., Makrypidi-Fraune, G., Steigert, A., Kuehn, S. C., Rolvien, T., Schweizer, M., Koehne, T., Neven, M., Winter, O., Velho, R. V., Albers, J., Streichert, T., Pestka, J. M., Baldauf, C., Breyer, S., Stuecker, R., Muschol, N., Cox, T. M., Saftig, P., Paganini, C., Rossi, A., Amling, M., Braulke, T. & Schinke, T., 12.2018, In: J BONE MINER RES. 33, 12, p. 2186-2201 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis
Lund, A. M., Borgwardt, L., Cattaneo, F., Ardigò, D., Geraci, S., Gil-Campos, M., De Meirleir, L., Laroche, C., Dolhem, P., Cole, D., Tylki-Szymanska, A., Lopez-Rodriguez, M., Guillén-Navarro, E., Dali, C. I., Héron, B., Fogh, J., Muschol, N., Phillips, D., Van den Hout, J. M. H., Jones, S. A., Amraoui, Y., Harmatz, P. & Guffon, N., 11.2018, In: J INHERIT METAB DIS. 41, 6, p. 1225-1233 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease
Godel, T., Köhn, A., Muschol, N., Kronlage, M., Schwarz, D., Kollmer, J., Heiland, S., Bendszus, M., Mautner, V-F. & Bäumer, P., 11.2018, In: J NEUROL. 265, 11, p. 2723-2729 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hip Morphology in MPS-1H Patients: An MRI-based Study
Breyer, S., Muschol, N. M., Schmidt, M., Rupprecht, M., Babin, K., Herrmann, J. & Stücker, R., 10.2018, In: J PEDIATR ORTHOPED. 38, 9, p. 478-483 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report
Berger-Groch, J., Rupprecht, M., Stuecker, R., Muschol, N. & Breyer, S. R., 09.2018, In: J Orthop Case Rep. 8, 5, p. 50-53 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
p.D313Y is more than just a polymorphism in Fabry disease
du Moulin, M. & Muschol, N., 06.2018, In: CLIN GENET. 93, 6, p. 1258Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study
Koehne, T., Köhn, A., Friedrich, R. E., Kordes, U., Schinke, T., Muschol, N. & Kahl-Nieke, B., 04.2018, In: CLIN ORAL INVEST. 22, 3, p. 1541-1549 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa
Berger, K. I., Burton, B. K., Lewis, G. D., Tarnopolsky, M., Harmatz, P. R., Mitchell, J. J., Muschol, N., Jones, S. A., Sutton, V. R., Pastores, G. M., Lau, H., Sparkes, R. & Shaywitz, A. J., 01.2018, In: JIMD reports. 42, p. 9-17 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy
Loso, J., Lund, N., Avanesov, M., Muschol, N., Lezius, S., Cordts, K., Schwedhelm, E. & Patten, M., 2018, In: FRONT CARDIOVASC MED. 5, p. 108Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2017
The mutation p.D313Y is associated with organ manifestation in Fabry disease
du Moulin, M., Koehn, A. F., Golsari, A., Dulz, S., Atiskova, Y., Patten, M., Münch, J., Avanesov, M., Ullrich, K. & Muschol, N., 11.2017, In: CLIN GENET. 92, 5, p. 528-533 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy
Godel, T., Bäumer, P., Pham, M., Köhn, A., Muschol, N., Kronlage, M., Kollmer, J., Heiland, S., Bendszus, M. & Mautner, V-F., 19.09.2017, In: NEUROLOGY. 89, 12, p. 1274-1282 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study
Harmatz, P. R., Mengel, E., Geberhiwot, T., Muschol, N. M., Hendriksz, C. J., Burton, B. K., Jameson, E., Berger, K. I., Jester, A., Treadwell, M., Sisic, Z. & Decker, C., 02.2017, In: AM J MED GENET A. 173, 2, p. 375-383Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2016
Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis
Bäumer, T., Bühring, N., Schelle, T., Münchau, A. & Muschol, N., 11.2016, In: DEV MED CHILD NEUROL. 58, 11, p. 1172-1179 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development
Koehne, T., Markmann, S., Schweizer, M., Muschol, N., Friedrich, R. E., Hagel, C., Glatzel, M., Kahl-Nieke, B., Amling, M., Schinke, T. & Braulke, T., 09.2016, In: BBA-MOL BASIS DIS. 1862, 9, p. 1570–1580Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
Schmidt, M., Breyer, S., Löbel, U., Yarar, S., Stücker, R., Ullrich, K., Müller, I. & Muschol, N., 10.07.2016, In: ORPHANET J RARE DIS. 11, 1, p. 93Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2015
Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I
Kühn, S. C., Koehne, T., Cornils, K., Markmann, S., Riedel, C., Pestka, J. M., Schweizer, M., Baldauf, C., Yorgan, T. A., Krause, M., Keller, J., Neven, M., Breyer, S., Stücker, R., Muschol, N., Busse, B., Braulke, T., Fehse, B., Amling, M. & Schinke, T., 15.12.2015, In: HUM MOL GENET. 24, 24, p. 7075-7086Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A Case of a Bilateral Cicatricial Upper Eyelid Entropion After Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type I
Dulz, S., Wagenfeld, L., Richard, G., Schrum, J., Muschol, N. & Keserü, M., 19.11.2015, In: OPHTHAL PLAST RECONS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study
Burton, B. K., Berger, K. I., Lewis, G. D., Tarnopolsky, M., Treadwell, M., Mitchell, J. J., Muschol, N., Jones, S. A., Sutton, V. R., Pastores, G. M., Lau, H., Sparkes, R., Genter, F., Shaywitz, A. J. & Harmatz, P., 10.2015, In: AM J MED GENET A. 167A, 10, p. 2272-2281 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial
Hendriksz, C. J., Giugliani, R., Harmatz, P., Mengel, E., Guffon, N., Valayannopoulos, V., Parini, R., Hughes, D., Pastores, G. M., Lau, H. A., Al-Sayed, M. D., Raiman, J., Yang, K., Mealiffe, M., Haller, C. & STRIVE Investigators, 02.2015, In: MOL GENET METAB. 114, 2, p. 178-85 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions
Otomo, T., Schweizer, M., Kollmann, K., Schumacher, V., Muschol, N., Tolosa, E., Mittrücker, H-W. & Braulke, T., 19.01.2015, In: J CELL BIOL. 208, 2, p. 171-80 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany
Hahn, A., Praetorius, S., Karabul, N., Dießel, J., Schmidt, D., Motz, R., Haase, C., Baethmann, M., Hennermann, J. B., Smitka, M., Santer, R., Muschol, N., Meyer, A., Marquardt, T., Huemer, M., Thiels, C., Rohrbach, M., Seyfullah, G. & Mengel, E., 2015, In: JIMD reports. 20, p. 65-75 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2014
Neurometabolische und Neurodegenerative Krankheiten: Mukopolysaccharidosen (MPS)
Muschol, N. M., 18.08.2014, Neuropädiatrie: Evidenzbasierte Therapie. Korinthenberg, R., Panteliadis, C. P. & Hagel, C. (eds.). 2 ed. München: Urban & FischerResearch output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review
Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
Lampe, C., Bosserhoff, A-K., Burton, B. K., Giugliani, R., de Souza, C. F., Bittar, C., Muschol, N., Olson, R. & Mendelsohn, N. J., 05.03.2014, In: J INHERIT METAB DIS. 37, 5, p. 823-829Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2013
Development of a mnemonic screening tool for identifying subjects with Hunter syndrome
Cohn, G. M., Morin, I., Whiteman, D. A. H. & Hunter Outcome Survey Investigators, 01.07.2013, In: EUR J PEDIATR. 172, 7, p. 965-70 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The effect of idursulfase on growth in patients with Hunter Syndrome: data from the Hunter Outcome Survey (HOS)
Jones, S. A., Parini, R., Harmatz, P., Giugliani, R., Fang, J., Mendelsohn, N. J. & HOS Natural History Working Group on behalf of HOS Investigators, 01.05.2013, In: MOL GENET METAB. 109, 1, p. 41-8 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2011
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome
Muschol, N., Pohl, S., Meyer, A., Gal, A., Ullrich, K. & Braulke, T., 07.2011, In: AM J MED GENET A. 155A, 7, p. 1634-1639 6 p., 7.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS)
Burton, B. K., Whiteman, D. A. H., HOS Investigators & Muschol, N. M., 01.06.2011, In: MOL GENET METAB. 103, 2, p. 113-20 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2010
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey
Mendelsohn, N. J., Harmatz, P., Bodamer, O., Burton, B. K., Giugliani, R., Jones, S. A., Lampe, C., Malm, G., Steiner, R. D., Parini, R., Hunter Outcome Survey Investigators & Muschol, N. M., 01.12.2010, In: GENET MED. 12, 12, p. 816-22 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages
Pohl, S., Tiede, S., Marschner, K., Encarnação, M., Castrichini, M., Kollmann, K., Muschol, N., Ullrich, K., Müller-Loennies, S. & Braulke, T., 30.07.2010, In: J BIOL CHEM. 285, 31, p. 23936-23944 9 p., 31.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey
Burton, B. K., Guffon, N., Roberts, J., van der Ploeg, A. T., Jones, S. A., HOS Investigators & Muschol, N. M., 20.07.2010, In: MOL GENET METAB. 101, 2-3, p. 123-9 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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.
Pohl, S., Encarnação, M., Castrichini, M., Müller-Loennies, S., Muschol, N. & Braulke, T., 01.2010, In: AM J MED GENET A. 152, 1, p. 124-132 9 p., 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2009
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
Mehta, A., Beck, M., Elliott, P., Giugliani, R., Linhart, A., Sunder-Plassmann, G., Schiffmann, R., Barbey, F., Ries, M. & Fabry Outcome Survey investigators, 12.12.2009, In: LANCET. 374, 9706, p. 1986-1996 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Kidney transplantation in patients with Fabry disease
Cybulla, M., Walter, K. N., Schwarting, A., Divito, R., Feriozzi, S., Sunder-Plassmann, G. & European FOS Investigators Group, 04.2009, In: TRANSPL INT. 22, 4, p. 475-481 7 p., 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2008
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)
Keyser, B., Mühlhausen, C., Dickmanns, A., Christensen, E., Muschol, N., Ullrich, K. & Braulke, T., 15.12.2008, In: HUM MOL GENET. 17, 24, p. 3854-3863 10 p., 24.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Initial report from the Hunter Outcome Survey
Wraith, J. E., Beck, M., Giugliani, R., Clarke, J., Martin, R., Muenzer, J., HOS Investigators & Muschol, N. M., 01.07.2008, In: GENET MED. 10, 7, p. 508-16 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1
Keyser, B., Glatzel, M., Stellmer, F., Kortmann, B., Lukacs, Z., Kölker, S., Sauer, S. W., Muschol, N., Herdering, W., Thiem, J., Goodman, S. I., Koeller, D. M., Ullrich, K., Braulke, T. & Mühlhausen, C., 06.2008, In: BBA-MOL BASIS DIS. 1782, 6, p. 385-390 6 p., 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
Meyer, A., Kossow, K., Gal, A., Steglich, C., Mühlhausen, C., Ullrich, K., Braulke, T. & Muschol, N., 05.2008, In: HUM MUTAT. 29, 5, p. 770 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2007
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Haas, D., Garbade, S. F., Vohwinkel, C., Muschol, N., Trefz, F. K., Penzien, J. M., Zschocke, J., Hoffmann, G. F. & Burgard, P., 2007, In: J INHERIT METAB DIS. 30, 3, p. 375-387 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
Meyer, A., Kossow, K., Gal, A., Mühlhausen, C., Ullrich, K., Braulke, T. & Muschol, N., 2007, In: PEDIATRICS. 120, 5, p. 1255-1261 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2005
Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia
Mühlhausen, C., Schneppenheim, R., Budde, U., Merkel, M., Muschol, N., Ullrich, K. & Santer, R., 2005, In: J INHERIT METAB DIS. 28, 6, p. 945-950 6 p., 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
Stephan, T., Muschol, N., Reutter, G., Cantz, M., Ullrich, K. & Braulke, T., 2005, In: AM J MED GENET A. 137, 3, p. 235-240 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2004
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.
Stephan, T., Cantz, M., Raas-Rothschild, A., Muschol, N., Bürger, F., Ullrich, K. & Braulke, T., 2004, In: HUM MUTAT. 24, 6, p. 535 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Muschol, N., Storch, S., Ballhausen, D., Beesley, C., Westermann, J-C., Gal, A., Ullrich, K., Hopwood, J. J., Winchester, B. & Braulke, T., 2004, In: HUM MUTAT. 23, 6, p. 559-566 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2003
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
Mühlhausen, C., Christensen, E., Schwartz, M., Muschol, N., Ullrich, K. & Lukacs, Z., 2003, In: J INHERIT METAB DIS. 26, 7, p. 713-714 2 p., 7.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2002
Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages.
Muschol, N., Matzner, U., Stephan, T., Gieselmann, V., Ullrich, K. & Braulke, T., 2002, In: BIOCHEM J. 368, 3, p. 845-853 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review