Miguel Tábuas-Pereira

🧩 Investigator Spotlight: Infrastructure Support @victorvalcour (UCSF), @neur0ghost (Coimbra), & Bill Seeley (UCSF) are building the infrastructure that powers 𝘎𝘙𝘕-related #FTDresearch—from #communityscreening to #biobanking & global trial readiness.

There are treatment options for Fabry, could they be helpful in some patients with AD?

Although we couldn't prove a link, this opens new questions and possible lines of investigation. This adds more evidence to the role of lysosomal dysfunction in AD and makes us wonder what more is there to find in the largely understudied X-chromosome in AD.

Our latest paper. By performing WGS in a Portuguese cohort of AD patients, we found patients carrying a rare variant in GLA. In one of them, neuropathological data was available, and we could show Fabry pathology in areas typically associated with AD. rdcu.be/egq1x

Why academia is sleepwalking into self-destruction. My editorial @Brain1878 If you agree with the sentiments please RT. It's important for all our sakes to stop the madness academic.oup.com/brain/issue/14…

@DenaDubal @Nature @UCSFAging @UCSF pubmed.ncbi.nlm.nih.gov/39235525/ I have to check our data tonsee if that makes a difference in how we interpreted this. What would you say?

The X chromosome inherited from mom impairs cognition and speeds up brain aging. Check out our latest @Nature. @UCSFAging @UCSF nature.com/articles/s4158… nature.com/articles/d4158…

Medications for AD are desperately needed. Millions of patients and families need a ray of hope. As all difficult paths, the effortful first step is essential. I hope European patients can feel that we are all fighting on their side. We, at EADC, are. link.springer.com/article/10.142…

In our most recent paper, we studied over 3000 portuguese subjects' family history. We found evidence for: 1) X-linked inherited risk 2) remote consaguinity as a risk factor for Alzheimer's Disease. link.springer.com/article/10.100…

Don't miss it! Tomorrow, Sunday, 9 am, room Oslo, #EAN2024. The @EANeurology mentorship task force will host an interactive workshop on mentoring. Everyone is welcome! #eanmentorship #Neurology #mentorship @MpPerrenoud @neur0ghost @SelmaAybek @franci_morgante @wojla

How would 45 expert clinicians from 12 countries approach seven clinical vignettes from memory clinics? It turns out clinical positive characteristics alone allow a very clear discrimination between FCD and neurodegeneration. Our #delphistudy is now out: onlinelibrary.wiley.com/doi/10.1111/en…

The new AlphaMissense catalogue from @GoogleDeepMind can be used with the @ensembl Variant Effect Predictor to predict variant pathogenicity and therefore aid interpretation. ebi.ac.uk/about/news/tec…

Congratulations @acatbernardes !

@GreenJournal Congratulations @acatbernardes!

Announcing the new #NeurologyEd Trainee Editorial Board Members! Join us in welcoming Drs. Ana Catarina Bernardes, Richard Carozza, Nikita Chhabra, Lena Liu, Michael P.H. Stanley, & Harry W. Sutherland to the team! Learn more about Neurology® Education: bit.ly/3Rh3lbt

Join us at the 2023 ISFTD Early and Mid Career Online Symposium on Nov 28-30! 📝 Free registration & abstract submission till Sep 12! Open to all ISFTD members & non-members. Spread the word and see you there! 🧠  🔗 Register now: isftdemcr.wixsite.com/isftd-emcr #ISFTD2023

I was watching Lord of the Rings last night and realized there are many parallels with academia! A thread 🧵👇

While I appreciate the sentiment, I am not a fan of such blind rules. Let me start with a 🧵 of some major human genetic discoveries (many translated to therapeutics) made with very few samples. twitter.com/ewanbirney/sta…

@pepperbern I took longer to understand the name of sinemet.

Have you applied for our new funding opportunity and workshop? We are accepting Letters of Intent for our Tauopathy Challenge Workshop and subsequent grant opportunity of up to $500,000. Visit our website for more details and to apply by 2/15. rainwatercharitablefoundation.org/tauopathy-chal…

Don't miss our webinar: "Progressive Supranuclear Palsy - not just Richardson’s syndrome". 📅 May 3, 11 am - 2 pm US Eastern Time The program is in collaboration between the @FTDPIA, @CurePSP and @RCFNeuro Please register here 👉 alz-org.zoom.us/webinar/regist…

Johansson et al. show that plasma GFAP begins to increase 10 years before symptom onset in Alzheimer's disease, prior to P-tau181 and NfL, suggesting that GFAP is mirroring pathology upstream of tau phosphorylation and neurodegeneration. bit.ly/3XB0QVB