link.springer.com/article/10.100… Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion.

When someone asks my about my current favourite research project:

38 years ago a woman in Coventry sent a letter to some scientists. That letter went on to be the most important in Alzheimer's research. Last year, I met Carol Jennings, who wrote it. 1/ thetimes.co.uk/article/e78c47…

Times zones really shouldn’t be this hard to cope with when planning

A beautiful day for long read sequencing at the Jackson Lab, Connecticut #LRSW24

Strong agree.

We find TDP-43 loss to cause presynaptic defects, which are rescued by ASOs correcting a single cryptic exon in UNC13A. Surprising effect of just one cryptic exon and promising strategy for ALS! Matt Keuss Pete Harley in great collaboration with Juan Burrone Lab biorxiv.org/content/10.110…

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing Congrats Cyril, Fahri Küçükali and all authors! Another milestone for FTLD and TDP-43 genetics! medrxiv.org/content/10.110…

biorxiv.org/content/10.110… Comparative Analysis of Commercial Single-Cell RNA Sequencing Technologies - very interesting reading.

theguardian.com/news/article/2…

Follow the new MND Research account MND Research. Easily one of the best sources of ALS/MND research information in the world.

🎉 Announcing the 2024 Basic Biology Consortia Grant Recipients! 🧬 We're thrilled to award six innovative projects funds to accelerate the discovery of effective treatments for sporadic #ALS. 🔗 Read more: bit.ly/4eUamw6 #ALSResearch #EndALS #EveryoneLives

Very excited to receive funding from Target ALS for our international consortia between Friedman Brain Institute , UCL Queen Square Institute of Neurology and UK Dementia Research Institute at Edinburgh. Rickie Patani, Philip Hasel , Andrea Malaspina, really looking forward to working with you all!

Very weird and super cool stuff is happening in HD in the last couple months - I need to put together a thread to wrap my own brain around this, but it feels like we're so close to grasping the most important pathogenic mechanisms...

New Pre-print Alert! My lab has previously shown that ALS cortex samples show 3 major transcriptional programs, reflecting: neuronal stress (ALS-Ox), neuroinflammation (ALS-Glia), and TPD-43 pathology associated transposable elements (ALS-TE). But what is a subtype?

Amazing work Daniele Mattei, PhD !

What causes PSP? Hadley Ressler's elegant new paper strongly supports evidence that 4Rtau mRNA synthesis going up is potentially a major driver: pubmed.ncbi.nlm.nih.gov/39154163/ Amazing work - congrats! #tau #psp The PSP Association Cure MAPT FTD CurePSP The Rainwater Charitable Foundation PSP Society of Canada Friedman Brain Institute

Eugenics today: Breeding for IQ. My essay is #3 in the Legacies of Eugenics series in the Los Angeles Review of Books lareviewofbooks.org/article/breedi…

Accurate long-read transcript discovery and quantification at single-cell, pseudo-bulk and bulk resolution with Isosceles nature.com/articles/s4146… #journals #feedly

Check out our new study describing how ATXN2 intermediate repeat expansions lead to ALS by using a large set of new models Nature Communications! rdcu.be/dSlOY UMC Utrecht ALS Nederland TNeuroscienceBrainCenter Utrecht University UMC Utrecht Hersencentrum