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, Tahir E, Adam G, Kirchhof P, Lund G, Cavus E, Patten M
SCI REP-UK. 2023;13(1):5809.

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, Couce M, Lin S, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz A, Maricich S, Kuca B, Kovalchin J, Zanelli E
J CLIN INVEST. 2023;133(2):.

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, Couce M, Lin S, Batzios S, Cleary M, Solano M, Peters H, Lee J, Nestrasil I, Shaywitz A, Maricich S, Kuca B, Kovalchin J, Zanelli E
J PEDIATR-US. 2022;249:50-58.e2.

Mandibular condyle morphology among patients with mucopolysaccharidosis: an observational study of panoramic radiographs
Schmid-Herrmann C, Muschol N, Fuhrmann V, Koehn A, Lezius S, Kahl-Nieke B, Koehne T
INT J PAEDIATR DENT. 2022;32(5):737-744.

Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: a retrospective cohort study
Dohrmann T, Muschol N, Sehner S, Punke M, Haas S, Roeher K, Breyer S, Koehn A, Ullrich K, Zöllner C, Petzoldt M
PEDIATR ANESTH. 2020;30(2):181-190.

Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group
Köhn A, Grigull L, du Moulin M, Kabisch S, Ammer L, Rudolph C, Muschol N
MOL GENET METAB REP. 2020;23:100578.

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.

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, Bäumer P
J NEUROL. 2018;265(11):2723-2729.

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.

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.

Letzte Aktualisierung aus dem FIS: 20.12.2024 - 23:35 Uhr