Today is a very exciting day to see this paper finally published in @NatureGenet 💫
Congratulations to Ana Topf and Volker Straub for the hard work and the resilience 👩🔬 🔬 👨🔬
@jwmdrc@UniofNewcastle@anatopf
Enjoy the reading https://t.co/2HkNJrwBA2
Happy #RareDiseaseDay ! 🦓
Let’s celebrate the resilience of those thriving with rare diseases.
Let’s acknowledge the battles fought for the rights we have today.
Let’s unite to empower a vision for improved equity, inclusion, accessibility to diagnosis and treatments worldwide.
Happy international day of women and girls in science. Celebrating the achievements of incredible women colleagues, collaborators, mentors, and many others who inspire by their strength, resilience, and brilliant minds while breaking stereotypes and barriers every day #IDWGS2024
@zhigangsuo So many beautiful places in and around Lexington. Another one of my favorites is the dirt path starting from the intersection of Old Mass Ave and Wood Street and going towards Concord. It is so beautiful in summer and fall, and there is so much history along the way.
@dan_owie Are these glass ones? They never worked well for us. Permanox from VWR work great for us without any coating for C2C12 and with gelatin-coating for human myoblasts
Great debate- if the muscle biopsy still indicated @TeresinhaEvange Vs Baziel van Engelen. Yes, we need Muscle biopsy to test the impact of new variants, improved diagnostics and learn about disease biology #notaferrari#wms2023
It’s #EMmonday and we’re looking at skeletal muscle with Euri Kim, Vandana Gupta @ResearchMuscle and colleagues. They identify defects in the glycerolipid pathway in tango2 mutants linked to rhabdomyolysis.
📖@DMM_Journal: https://t.co/PdaBKZzy6q
New @AJHGNews paper: High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy. https://t.co/MbItUEZISs
Rhabdomyolysis is a complex disorder where extrinsic factors play a major role in driving the disease onset and muscle breakdown. Our study provides insights in to extrinsic factors that lead to the disease onset and intrinsic processes that play a major role in disease pathology