Jan Kirschner
Overview
Explore the profile of Jan Kirschner including associated specialties, affiliations and a list of published articles.
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14
Citations
792
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0
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Recent Articles
1.
Garnier N, Berghout J, Zygmunt A, Singh D, Huang K, Kantz W, et al.
PLoS One
. 2023 Nov;
18(11):e0293503.
PMID: 37992053
Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries....
2.
Muller-Felber W, Blaschek A, Schwartz O, Glaser D, Nennstiel U, Brockow I, et al.
J Neuromuscul Dis
. 2022 Dec;
10(1):55-65.
PMID: 36463459
Now that targeted therapies for spinal muscular atrophy are available, attempts are being made worldwide to include screening for spinal muscular atrophy in general newborn screening. In Germany, after pilot...
3.
Elliott T, Larridon I, Barrett R, Bruhl J, Costa S, Escudero M, et al.
Mol Phylogenet Evol
. 2022 Nov;
179:107665.
PMID: 36375790
No abstract available.
4.
Drabkova L, Kirschner J, Vlcek C
Cladistics
. 2021 Dec;
22(2):132-143.
PMID: 34892869
Juncus and Luzula are the largest, almost cosmopolitan, genera in the Juncaceae. Relationships within Juncus and Luzula and among other genera of Juncaceae (Distichia, Marsippospermum, Oxychloë, Patosia and Rostkovia) remain...
5.
Preite V, Oplaat C, Biere A, Kirschner J, van der Putten W, Verhoeven K
Ecol Evol
. 2018 Mar;
8(5):3047-3059.
PMID: 29531716
DNA methylation is one of the mechanisms underlying epigenetic modifications. DNA methylations can be environmentally induced and such induced modifications can at times be transmitted to successive generations. However, it...
6.
Koeks Z, Bladen C, Salgado D, van Zwet E, Pogoryelova O, McMacken G, et al.
J Neuromuscul Dis
. 2017 Nov;
4(4):293-306.
PMID: 29125504
Background: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable...
7.
Schorling D, Rost S, Lefeber D, Brady L, Muller C, Korinthenberg R, et al.
Neurology
. 2017 Jul;
89(7):657-664.
PMID: 28733338
Objective: To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features. Methods: This case study of 5...
8.
Wilschut R, Oplaat C, Snoek L, Kirschner J, Verhoeven K
Mol Ecol
. 2015 Nov;
25(8):1759-68.
PMID: 26615058
Epigenetic variation has been proposed to contribute to the success of asexual plants, either as a contributor to phenotypic plasticity or by enabling transient adaptation via selection on transgenerationally stable,...
9.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
Bladen C, Salgado D, Monges S, Foncuberta M, Kekou K, Kosma K, et al.
Hum Mutat
. 2015 Jan;
36(4):395-402.
PMID: 25604253
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical...
10.
Bladen C, Thompson R, Jackson J, Garland C, Wegel C, Ambrosini A, et al.
J Neurol
. 2013 Oct;
261(1):152-63.
PMID: 24162038
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival...