Nicole Muschol
Priv.-Doz. Dr. med.
Nicole Maria Muschol
  • Funktionsoberärztin
  • Facharzt für Kinder- und Jugendmedizin


O45 , 1. Etage
Deutsch (Muttersprache)





  • 2020
  • 2019
  • 2018
  • 2017
  • 2016
  • 2015
  • 2014
  • 2013
  • 2011
  • 2010
  • 2008
  • 2007
  • 2005
  • 2004
  • 2003
  • 2002

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
HUM MOL GENET. 2020;29(5):803-816.

Retinal hyperreflective foci in Fabry disease
Atiskova Y, Rassuli R, Koehn A, Golsari A, Wagenfeld L, du Moulin M, Muschol N, Dulz S
ORPHANET J RARE DIS. 2019;14(1):296.

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
Sleep Breath. 2019;23(4):1315-1321.

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
Muschol N, Pape D, Kossow K, Ullrich K, Arash-Kaps L, Hennermann J, Stücker R, Breyer S
ORPHANET J RARE DIS. 2019;14(1):93.

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations
Velho R, Harms F, Danyukova T, Ludwig N, Friez M, Cathey S, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee K, Brammeier K, Heptinstall L, Oussoren E, van der Ploeg A, Petersen C, Alves S, Saavedra G, Schwartz I, Muschol N, Kutsche K, Pohl S
HUM MUTAT. 2019;40(7):842-864.

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
Journal of orthopaedic case reports. 2018;8(5):50-53.

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, Burton B, Lewis G, Tarnopolsky M, Harmatz P, Mitchell J, Muschol N, Jones S, Sutton V, Pastores G, Lau H, Sparkes R, Shaywitz A
JIMD reports. 2018;42:9-17.

Hip Morphology in MPS-1H Patients: An MRI-based Study
Breyer S, Muschol N, Schmidt M, Rupprecht M, Babin K, Herrmann J, Stücker R
J PEDIATR ORTHOPED. 2018;38(9):478-483.

Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study
Koehne T, Köhn A, Friedrich R, Kordes U, Schinke T, Muschol N, Kahl-Nieke B
CLIN ORAL INVEST. 2018;22(3):1541-1549.

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
Front Cardiovasc Med. 2018;5:108.

The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover
Pohl S, Angermann A, Jeschke A, Hendrickx G, Yorgan T, Makrypidi-Fraune G, Steigert A, Kuehn S, Rolvien T, Schweizer M, Koehne T, Neven M, Winter O, Velho R, Albers J, Streichert T, Pestka J, Baldauf C, Breyer S, Stuecker R, Muschol N, Cox T, Saftig P, Paganini C, Rossi A, Amling M, Braulke T, Schinke T
J BONE MINER RES. 2018;33(12):2186-2201.

The mutation p.D313Y is associated with organ manifestation in Fabry disease
du Moulin M, Koehn A, Golsari A, Dulz S, Atiskova Y, Patten M, Münch J, Avanesov M, Ullrich K, Muschol N
CLIN GENET. 2017;92(5):528-533.

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
NEUROLOGY. 2017;89(12):1274-1282.

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study
Harmatz P, Mengel E, Geberhiwot T, Muschol N, Hendriksz C, Burton B, Jameson E, Berger K, Jester A, Treadwell M, Sisic Z, Decker C
AM J MED GENET A. 2017;173(2):375-383.

Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis
Bäumer T, Bühring N, Schelle T, Münchau A, Muschol N
DEV MED CHILD NEUROL. 2016;58(11):1172-1179.

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, Hagel C, Glatzel M, Kahl-Nieke B, Amling M, Schinke T, Braulke T
BBA-MOL BASIS DIS. 2016;1862(9):1570–1580.

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
ORPHANET J RARE DIS. 2016;11(1):93.

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, KI, B, GD L, M T, M T, JJ M, Muschol N, SA J, VR S, Pastores G, Lau H, R S, F G, AJ S, Harmatz P
AM J MED GENET A. 2015;167(10):2272-81.

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
Ophthal Plast Reconstr Surg. 2015.

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, Smitka M, Santer R, Muschol N, Meyer A, Marquardt T, Huemer M, Thiels C, Rohrbach M, Seyfullah G, Mengel E
JIMD reports. 2015;20:65-75.

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial
Hendriksz C, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores G, Lau H, Al-Sayed M, Raiman J, Yang K, Mealiffe M, Haller C
MOL GENET METAB. 2015;114(2):178-85.

Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I
Kühn S, Koehne T, Cornils K, Markmann S, Riedel C, Pestka J, Schweizer M, Baldauf C, Yorgan T, Krause M, Keller J, Neven M, Breyer S, Stücker R, Muschol N, Busse B, Braulke T, Fehse B, Amling M, Schinke T
HUM MOL GENET. 2015;24(24):7075-7086.

Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions
Otomo T, Schweizer M, Kollmann K, Schumacher V, Muschol N, Tolosa E, Mittrücker H, Braulke T
J CELL BIOL. 2015;208(2):171-80.

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
Lampe C, Bosserhoff A, Burton B, Giugliani R, de Souza C, Bittar C, Muschol N, Olson R, Mendelsohn N
J INHERIT METAB DIS. 2014;37(5):823-829.

Neurometabolische und Neurodegenerative Krankheiten: Mukopolysaccharidosen (MPS)
Muschol N
2014. Neuropädiatrie: Evidenzbasierte Therapie. Korinthenberg R, Panteliadis C, Hagel C (Hrsg.). 2. Aufl. München: Urban & Fischer, .

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome
Cohn G, Morin I, Whiteman D
EUR J PEDIATR. 2013;172(7):965-70.

The effect of idursulfase on growth in patients with Hunter Syndrome: data from the Hunter Outcome Survey (HOS)
Jones S, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn N
MOL GENET METAB. 2013;109(1):41-8.

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, Whiteman D, , Muschol N
MOL GENET METAB. 2011;103(2):113-20.

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
AM J MED GENET A. 2011;155A(7):1634-1639.

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey
Burton B, Guffon N, Roberts J, van der Ploeg A, Jones S, , Muschol N
MOL GENET METAB. 2010;101(2-3):123-9.

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey
Mendelsohn N, Harmatz P, Bodamer O, Burton B, Giugliani R, Jones S, Lampe C, Malm G, Steiner R, Parini R, , Muschol N
GENET MED. 2010;12(12):816-22.

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
AM J MED GENET A. 2010;152(1):124-132.

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
J BIOL CHEM. 2010;285(31):23936-23944.

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, Muschol N, Herdering W, Thiem J, Goodman S, Koeller D, Ullrich K, Braulke T, Mühlhausen C
BBA-MOL BASIS DIS. 2008;1782(6):385-390.

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
HUM MOL GENET. 2008;17(24):3854-3863.

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
HUM MUTAT. 2008;29(5):770.

Initial report from the Hunter Outcome Survey
Wraith J, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J, , Muschol N
GENET MED. 2008;10(7):508-16.

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Haas D, Garbade S, Vohwinkel C, Muschol N, Trefz F, Penzien J, Zschocke J, Hoffmann G, Burgard P
J INHERIT METAB DIS. 2007;30(3):375-387.

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
PEDIATRICS. 2007;120(5):1255-1261.

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
J INHERIT METAB DIS. 2005;28(6):945-50.

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
J INHERIT METAB DIS. 2005;28(6):945-950.

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
AM J MED GENET A. 2005;137(3):235-240.

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, Gal A, Ullrich K, Hopwood J, Winchester B, Braulke T
HUM MUTAT. 2004;23(6):559-566.

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
HUM MUTAT. 2004;24(6):535.

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
J INHERIT METAB DIS. 2003;26(7):713-4.

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
J INHERIT METAB DIS. 2003;26(7):713-714.

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
BIOCHEM J. 2002;368(3):845-853.

Letzte Aktualisierung aus dem FIS: 24.09.2020 - 00:45 Uhr