Jim Dowling

@JamesFasham Was going to guess ACTA1. Just checked. It’s z is “only” 6.09

Wow that's some missense constraint (new figure from gnomAD v4) 💪 Anyone want to guess the gene?

@wbderry Congrats!!!!

@Matt_Muscle_Guy @jclinicalinvest Kudos to Sophie Koralczak, the outstanding student who led the work, and to Ashish Deshwar, who co-supervised the work, and who is now a new SickKids staff!

Congrats to @jdowling007 & colleagues for their new @jclinicalinvest paper: Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy. tinyurl.com/4428jbae

A special “shout out” to Yukari Endo, an amazing scientist who is a newly minted assistant prof at Juntendo University SoM (Tokyo). It’s a bittersweet day for my lab, as she has been such a valuable contributor and amazing lab member. So happy she is staying in the muscle field!

@wbderry @peterhook Mine is waiting for me at home. Can’t wait! They crushed it live in Toronto

@wbderry @peterhook Ooooo! It came!!!

@wbderry @Rhino_Records Ha! My first try at that also had two copies. Record 2x2. Maybe our two pressings were star crossed lovers! Finally got mine sorted out. Amazing album with some of the best long track Cure songs

@querques2000 Love this book!

Back in Toronto after a great week at the MDA gene therapy summit and the Carrell Krusen Symposium at UT Southwestern. Special thanks to Susan Iannaccone and Kaitlin Batley and their team for hosting such a great event.

Happy #WomenInScience day! A thank you to my amazing mentors - Elaine Fuchs and Eva Feldman. A shout out to my colleagues who are continuing to trail blaze. And lastly a big thanks to the amazing women scientists in my lab who make my team such a great one

New! Sondheimer et al. identify mitochondrial PCK2 dysfunction as a cause of peripheral neuropathy #OA bit.ly/3ZUP220

@wbderry Classic. Tho my go to Shatner is Lucy in the Sky with Diamonds

@hilsawh @UofT Welcome to UT! Will be amazing to have u here! Would love to chat further (and pitch u a potential collaboration)

Happy new year! 2023 brings some super exciting news: This Guyanese 🇬🇾 girl will be starting as a tenure-track Assistant Professor in the Department of Biochemistry @UofT in May!! We will study the functional role of genome organization in development: sawhlab.netlify.app

@Matt_Muscle_Guy V excited to see the results!

It's that time of year, the 9th Annual "Matt's Top 10 Totally Biased Muscle Papers of the year" in which I pick my favorite skeletal muscle papers from the past year (10-1) with little justification other than I really liked them.

@LouisTDang Hi Louis. Pretty sure University of Chicago will do this

Hi #neurotwitter, anyone know of a clinical lab (not research-sequencing) that does next-gen sequencing of resected epileptogenic brain tissue from focal cortical dysplasia? Ideally with mTOR pathway, SLC35A2, and potentially other candidate genes as well?

@EstherVerheyen @CIHR_IRSC Good luck to all, and remember to consider every submission as an achievement in and of itself!

Wishing luck to all of us who have submitted @CIHR_IRSC project grants this round! Now we wait.. 🍀😬🤞

@vumcpedepilepsy Agreed with general idea of complex febrile but also wonder about Rasmussen encephalitis (so guesses the myologist)

@EpigeneticsYOW @ScienceMagazine Amazing work Jeff! Congrats to you and your team!!!

Thanks Davide for writing this exciting Perspective on our @ScienceMagazine paper looking at how JMJD3 instructs the stem cells to make hyaluronic acid for counteracting the immune response in injured muscle.

@wbderry Skipping Power, Corruption, and Lies?