Publications by authors named "Jan Kirschner"

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Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A Huang, Jan Kirschner

PLoS One· November 2023

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Addressing inconsistencies in Cyperaceae and Juncaceae taxonomy: Comment on Brožová et al. (2022).
Tammy L Elliott, Isabel Larridon, Russell L Barrett, Jeremy J Bruhl, Suzana M Costa, Jan Kirschner

Mol Phylogenet Evol· February 2023

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Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
Wolfgang Müller-Felber, Astrid Blaschek, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Jan Kirschner

J Neuromuscul Dis· January 2023

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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
Zaïda Koeks, Catherine L Bladen, David Salgado, Erik van Zwet, Oksana Pogoryelova, Jan Kirschner

J Neuromuscul Dis· July 2019

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Increased transgenerational epigenetic variation, but not predictable epigenetic variants, after environmental exposure in two apomictic dandelion lineages.
Veronica Preite, Carla Oplaat, Arjen Biere, Jan Kirschner, Wim H van der Putten

Ecol Evol· March 2018

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Early and lethal neurodegeneration with myasthenic and myopathic features: A new -CDG.
David C Schorling, Simone Rost, Dirk J Lefeber, Lauren Brady, Clemens R Müller, Jan Kirschner

Neurology· August 2017

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Natural epigenetic variation contributes to heritable flowering divergence in a widespread asexual dandelion lineage.
Rutger A Wilschut, Carla Oplaat, L Basten Snoek, Jan Kirschner, Koen J F Verhoeven

Mol Ecol· April 2016

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The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Catherine L Bladen, David Salgado, Soledad Monges, Maria E Foncuberta, Kyriaki Kekou, Jan Kirschner

Hum Mutat· April 2015

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Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.
Catherine L Bladen, Rachel Thompson, Jacqueline M Jackson, Connie Garland, Claire Wegel, Jan Kirschner

J Neurol· January 2014

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The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Catherine L Bladen, Karen Rafferty, Volker Straub, Soledad Monges, Angélica Moresco, Jan Kirschner

Hum Mutat· November 2013

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Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, Valeska Frank, Heike Olbrich, Jan Kirschner

Am J Hum Genet· April 2008

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Phylogenetic relationships within Luzula DC. and Juncus L. (Juncaceae): A comparison of phylogenetic signals of trnL-trnF intergenic spacer, trnL intron and rbcL plastome sequence data.
Lenka Drábková, Jan Kirschner, Čestmír Vlček

Cladistics· April 2006

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TrnL- trnF intergenic spacer and trnL intron define major clades within Luzula and Juncus (Juncaceae): importance of structural mutations.
Lenka Drábková, Jan Kirschner, Cestmír Vlcek, Václav Paces

J Mol Evol· July 2004

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Clinical impact of antibody formation to botulinum toxin A in children.
Jochen Herrmann, Katrin Geth, Volker Mall, Hans Bigalke, Jürgen Schulte Mönting, Jan Kirschner

Ann Neurol· May 2004

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