C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes. doi.org/10.1093/brain/…

📢 Excited about another published Solve-RD Seeding Grant project: Stefan Barakat & Tjakko van Ham Erasmus MC use #zebrafish to confirm AMFR as causative for #HereditarySpasticParaplegia. Congrats! 👏 Reza Maroofian UCL Queen Square Institute of Neurology The Neurogenetics Lab ION @ERN_RND 🧠 ern euro_nmd 👉🏽 solve-rd.eu/rdmm-europe/

📢Calling all computational genomics enthusiasts! 🧬Join the Functional Genomics lab at Ghent University as a PhD researcher to delve into the fascinating world of organoids and gene regulation during early brain development. Ghent University Research UGent Geneeskunde & Gezondheidswetenschappen ugent.be/en/work/scient…

📢 Excited to announce that Patrik Verstreken Lab - group leader and scientific director at VIB-KU Leuven Center for Brain & Disease Research - was chosen as one of the laureates of the AstraZeneca Foundation's biennial Awards 2023 🤩🏆, for his outstanding research contributions. 🧠

Deeply grateful for all the donations and legacies from patients and families supporting our research into Alzheimer's and related inherited neurodegenerative diseases! UGent UGent Geneeskunde & Gezondheidswetenschappen UZ Gent @CZZ_PrOZA More information at durfdenken.be/en/research-an…

💫 Online now AJHG 📰 CGG repeat expansion in LRP12 in #ALS 🧑‍🤝‍🧑Hideshi Kawakami & colleagues 👇 bit.ly/3XeXkki

New online! Nutritional and metabolic factors in amyotrophic lateral sclerosis dlvr.it/SsqR8f

Derde plaats in de #PhDCup voor Clara Leyns 👏👏👏. Zo trots! 🥰 Vakgroep Revalidatiewetenschappen UGent UGent SciMingo

New manuscript, based on huge effort by our PhD candidate Wouter Steyaert! He built a tool “Chameleolyzer” to better analyze homologous sequences from massive short-read exome data, validated by long-read sequencing. nature.com/articles/s4146…

A > 25-year genetic puzzle is finally solved, thanks to long-read sequencing technology. Spinocerebellar ataxia type 4 (SCA4) was first described in 1996 in a five-generation pedigree from the US state of Utah with late-onset autosomal dominant cerebellar ataxia with prominent

Happy to the share full-text links to our PLAAT3/lipodystrophy paper Nature Genetics : rdcu.be/dp7R3 (article), rdcu.be/dqbmY (summary). Thank you to all collaborators!! @CZZ_PrOZA Solve-RD

🙌 Congratulations to Roosmarijn Vandenbroucke (Roos Vandenbroucke Vandenbroucke lab @UGent) for receiving an European Research Council (ERC) Consolidator grant! With this grant, she will explore new ways to get medication from the blood to the brain. #ERCCoG 👉 vibbio.tech/47FLSlC

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis academic.oup.com/brain/article/…

New content online: Phospholipid biosynthetic pathways and lipodystrophies: a novel syndrome due to PLAAT3 deficiency dlvr.it/T18frZ

The expanding diagnostic toolbox for rare genetic diseases go.nature.com/426dFKD #Review by Kristin D. Kernohan & Kym M. Boycott CHEO Ottawa Care4Rare Canada

🚨 Online now! 📰Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability 🧑‍🤝‍🧑Sarah Vergult Bert Callewaert & colleagues cell.com/ajhg/abstract/…

Register here: zebrafishfacilityghent.org/small-animal-m…

Great news: Our Solve-RD “flagship paper” was just published in Nature Medicine 🥳 and is available online 👉 nature.com/articles/s4159…

New review article on TDP-43 in muscle disease out now in Brain! academic.oup.com/brain/advance-…