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Blood Advances|October 7, 2022
MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicityKerstin Schütze, Miriam Groß, Kerstin Cornils, et al.
European Journal of Pediatrics|December 18, 2002
Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophyMatthias Baumann, G Christoph Korenke, Almuth Weddige-Diedrichs, et al.
Blood|September 15, 1995
A second generation transgenic mouse model expressing both hemoglobin S (HbS) and HbS-Antilles results in increased phenotypic severityM E Fabry, A Sengupta, S M Suzuka, et al.
Journal of Medical Genetics|May 3, 2013
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGTMalin Kvarnung, Daniel Nilsson, Anna Lindstrand, et al.
Molecular Syndromology|September 3, 2016
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous MalformationsStefanie Spiegler, Bettina Kirchmaier, Matthias Rath, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformationsMatthias Rath, Stefanie Spiegler, Neetika Nath, et al.
European Journal of Medical Genetics|August 29, 2020
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approachesSabine Illsinger, G Christoph Korenke, Sylvia Boesch, et al.
Neuropediatrics|April 14, 2021
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal NeuropathyMurtadha L Al-Saady, Charlotte S Kaiser, Felipe Wakasuqui, et al.
The Journal of Clinical Investigation|January 9, 2019
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humansGergely Karsai, Florian Kraft, Natja Haag, et al.
Genes|April 28, 2023
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent VariantMartje G Pauly, G Christoph Korenke, Sokhna Haissatou Diaw, et al.
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