Research ExplorerScientific StaffNicole Maria Muschol Publications

PD Dr.med. ID: 48191

Nicole Maria Muschol

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Publications

  1. 2024

  2. 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

  3. 2023

  4. 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

  5. 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

  6. 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

  7. 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. 5809

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. 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

  9. 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

  10. 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

  11. 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

  12. 2022

  13. 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. 391

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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. 907317

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. 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. 272–281

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. 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. 75

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 2021

  27. 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

  28. 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

  29. 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. 3518

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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

  35. 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

  36. 2020

  37. 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

  38. 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, 12

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. 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. 271

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. 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

  41. 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

  42. 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. 100578

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. 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

  44. 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. E728

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  45. 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

  46. 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

  47. 2019

  48. 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. 296

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  49. 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

  50. "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. e00615

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  51. 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. 168

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  52. 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

  53. 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

  54. 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. 93

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  55. 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

  56. 2018

  57. 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

  58. 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

  59. 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

  60. 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

  61. 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

  62. p.D313Y is more than just a polymorphism in Fabry disease

    du Moulin, M. & Muschol, N., 06.2018, In: CLIN GENET. 93, 6, p. 1258

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  63. 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

  64. 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

  65. 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. 108

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  66. 2017

  67. 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

  68. 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

  69. 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. 375-383

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  70. 2016

  71. 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

  72. 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. 1570–1580

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  73. 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. 93

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  74. 2015

  75. 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. 7075-7086

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  76. 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

  77. 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

  78. 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

  79. 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

  80. 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

  81. 2014

  82. 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 & Fischer

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review

  83. 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. 823-829

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  84. 2013

  85. 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

  86. 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

  87. 2011

  88. 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

  89. 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

  90. 2010

  91. 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

  92. 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

  93. 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

  94. 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

  95. 2009

  96. 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

  97. 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

  98. 2008

  99. 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

  100. 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

  101. 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

  102. 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

  103. 2007

  104. 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

  105. 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

  106. 2005

  107. 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

  108. 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

  109. 2004

  110. 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

  111. 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

  112. 2003

  113. 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

  114. 2002

  115. 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