Great to see this published- was looking forward to reading this since you first presented these amazing findings!

wir sollten das Projekt Sylt insgesamt aufgeben und das Ding einfach komplett mit Windrädern zustellen, es reicht

Abstracts of exceptional originality and importance, completed after 14 June 2024, may be considered for oral presentation in the Late Breaking News Session. Find out all about this opportunity 📤 ssiem2024.org/abstract/late-… #SSIEM2024 #ExploringNewHorizons

The The Lily Foundation is a great supporter of the research we do to improve diagnosis rates for patients with rare mitochondrial disease!

The latest publication in JIMD discusses the history of the Urea Cycle, from when it was first described through to what we still don't know. It's a fascinating article, check it out: 👇 doi.org/10.1002/jimd.1… Johannes Häberle, Barbara Siri, Carlo Dionisi-Vici #UreaCycle #UCD

Launay et al. identify abnormalities in mitochondrial dynamics, favouring increased mitochondrial fission, in models of the inherited neurodegenerative disorder, X-linked adrenoleukodystrophy. tinyurl.com/43pmkt27

Very happy to be part of this research effort #ros

Looking forward to this exciting symposium Hospital Sant Joan de Déu Barcelona ES !

We have similar problems in Germany and I guess everywhere with comparable health systems. Respect to Louise, who I got to know at #LINO2023 for speaking out!

When medical experts propose a new syndrome, especially when there are no pathognomonic signs, be on guard. The media and medical industrial complex then get involved & before you can blink, the nebulous condition enters the vernacular and starts to be worn as a badge of honour

We have an opening for a PhD student position dealing with the investigation of lysosomal degradation of mitochondria-derived vesicles as part of the new DFG priority program MITOSTASIS (SPP2453). Details can be found here: shorturl.at/Sf3E6 Please share and re-tweet!

Join the SSIEM run team. This year we're bringing you literal speedy mentors* for an 8km run or a 3km walk on Wednesday 4th September. We're asking delegates to register their interest here 👉 forms.gle/NWnm3exE3VNmhp… And we've a charity partner 👉 whydonate.com/en/donate/kast…

Actually bought new shows two weeks ago!

Update on NALL for #NPC by Tatiana Bremova SSIEM 2024 Annual Symposium Very happy to have been part of this team effort!

Excited to share our latest preprint, led by Dr. Monika Olahova Winter Rachel Guerra & Jack Collier in collaboration with the Wittig lab & Pagliarini Lab biorxiv.org/cgi/content/sh…

I NEED YOUR HELP... If you are in the Liverpool area/willing to travel for novel research into PKU, I would love to hear from you! Any patient with PKU >16yr or caregiver of those <16yr are welcome! Please email me [email protected] to get involved :)

I've mentioned this before, but you can never talk too much about good things: