Brunhilde Wirth

454 posts

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Brunhilde Wirth

Brunhilde Wirth

@BrunhildeWirth

Prof. of Human Genetics, Chair of the Inst. of Human Genetics, Univ. of Cologne, Gene Hunting, Dissecting disease mechanism, Neurogenetics, Modifying genes, SMA

Cologne, Germany Katılım Mart 2016
151 Takip Edilen622 Takipçiler
Florian Kraft
Florian Kraft@flokraft_·
Our investigation began with a single patient who presented with global developmental delay, muscle hypotonia, ataxia, microcephaly, and intellectual disability, and was found to have a de novo nonsense mutation in the CCT3gene. 2/8
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Florian Kraft
Florian Kraft@flokraft_·
I am excited to share our latest research findings with you. We have identified a new group of neurodevelopmental disorders, which we are calling "TRICopathies," caused by de novo mutations in genes encoding the subunits of the TRiC complex. 1/8 science.org/doi/10.1126/sc…
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Brunhilde Wirth retweetledi
Valentina Piano (@valentinapiano.bsky.social)
So excited to be part of the @CRC_1218 !!! I am so looking forward to next 4 years of great scientific collaborations with this incredible team of scientists! If you are interested in #mitochondrialdynamics and #imaging, then contact us because we are #hiring!
Elena Irene Rugarli@ElenaRugarli

A big day for the Cologne mitochondrial community! The #CRC1218 is funded by the DFG for another four years! This collaborative grant will foster exciting discoveries on how #mitochondria regulate cell function. Thank you to all colleagues, postdocs, and PhD students involved.

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Lisa
Lisa@lisapavinato·
Today, in Campidoglio, I received the acknowledgment of “Paladini Italiani della Salute” and the Award “Recti Eques” under 35 for the research on rare diseases! I am really grateful for these acknowldegments and I want to thank the Commission for this opportunity 🧬
Lisa tweet mediaLisa tweet media
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Brunhilde Wirth
Brunhilde Wirth@BrunhildeWirth·
Sofia Vrettou, @UKKoeln @UniCologne receives 1st price at NDS-2024 in Barcelona for her presentation on "Dysregulated S-glutathionylationand Redox Enzymes in Multiple Murine Organs of Spinal Muscular Atrophy" Congratulation!!! @SMABEYOND
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Akis Papantonis
Akis Papantonis@AkisPapantonis·
As off yesterday (exactly on the day that my 1st postdoctoral paper was published) I am the proud occupant of the W3-Professorship for Translational Epigenetics & Genome Architecture at the Medical Faculty of the University of Goettingen. There is not doubt in my head that…
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