Erdmute Kunstmann
Overview
Explore the profile of Erdmute Kunstmann including associated specialties, affiliations and a list of published articles.
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Articles
39
Citations
781
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Recent Articles
1.
Sagath L, Kiiski K, Naidu K, Patel K, Jonson P, Laarne M, et al.
medRxiv
. 2025 Jan;
PMID: 39802796
Introduction: Structural variants (SVs) of the nebulin gene (), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies...
2.
Dege T, Maurus K, Kneitz H, Presser D, Kunstmann E, Schilling B
J Dtsch Dermatol Ges
. 2023 Nov;
21(11):1396-1398.
PMID: 37946635
No abstract available.
3.
Nattmann A, Kunstmann E, Gernert M, Schwabe D
Ophthalmologie
. 2023 Oct;
121(2):141-145.
PMID: 37816831
No abstract available.
4.
Dege T, Maurus K, Kneitz H, Presser D, Kunstmann E, Schilling B
J Dtsch Dermatol Ges
. 2023 Sep;
21(11):1396-1398.
PMID: 37658656
No abstract available.
5.
Lorenz D, Musacchio T, Kunstmann E, Grauer E, Pluta N, Stock A, et al.
BMC Neurol
. 2022 Mar;
22(1):93.
PMID: 35291973
Background: Mucopolysaccharidosis type III (Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in the heparan-N-sulfatase enzyme involved in the catabolism of the glycosaminoglycan heparan sulfate. It is...
6.
Eggermann T, Kraft F, Kloth K, Klopocki E, Huning I, Hempel M, et al.
Clin Genet
. 2020 Dec;
98(4):418-419.
PMID: 33294970
The clinical impact of duplications affecting the 11p15.5 region is difficult to predict, and depends on the parent-of-origin of the affected allele as well as on the type (deletion, duplication),...
7.
Kolokotronis K, Pluta N, Klopocki E, Kunstmann E, Messroghli D, Maack C, et al.
J Clin Med
. 2020 Jul;
9(7).
PMID: 32659924
Inherited cardiomyopathies are characterized by clinical and genetic heterogeneity that challenge genetic diagnostics. In this study, we examined the diagnostic benefit of exome data compared to targeted gene panel analyses,...
8.
Eggermann T, Kraft F, Lausberg E, Ergezinger K, Kunstmann E
J Med Genet
. 2020 May;
58(3):173-176.
PMID: 32447323
Background: The chromosomal region 11p15.5 harbours two imprinting centres (:IG-DMR/IC1, :TSS-DMR/IC2). Molecular alterations of the IC2 are associated with Beckwith-Wiedemann syndrome (BWS), whereas only single patients with growth retardation and...
9.
Hasler D, Meduri R, Bak M, Lehmann G, Heizinger L, Wang X, et al.
Mol Cell
. 2020 Feb;
77(5):1014-1031.e13.
PMID: 32017898
The La-related protein 7 (LARP7) forms a complex with the nuclear 7SK RNA to regulate RNA polymerase II transcription. It has been implicated in cancer and the Alazami syndrome, a...
10.
Andres O, Konig E, Althaus K, Bakchoul T, Bugert P, Eber S, et al.
TH Open
. 2019 Jun;
2(4):e445-e454.
PMID: 31249973
Inherited platelet disorders (IPD) form a rare and heterogeneous disease entity that is present in about 8% of patients with non-acquired bleeding diathesis. Identification of the defective cellular pathway is...