PD Dr.med. ID: 48191
Nicole Maria Muschol
Publications
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
"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
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
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
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
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
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