Search results for #titinopathy
Today for #NationalVolunteerMonth we're featuring Sarah, volunteer editor of the NORD #RareDisease Report on recessive #titinopathy and founder of NORD Member organization, #TeamTitin! It all started when Sarah became a rare parent. Read more: bit.ly/3vR7crj
Team Titin is excited to announce their grant of $50,000 over 2 years to Dr. Isabelle Richard, PhD (PI, @GenethonFr) to support, “Generation and characterization of skeletal muscle organoids from TTN patients’ iPSC for therapeutic screening." bit.ly/4cdKREK #titinopathy
Team Titin is thrilled to share the new #RecessiveTitinopathy Rare Disease Report on NORD's website just in time for #RareDiseaseDay! Check it out: rarediseases.org/rare-diseases/… #Titinopathy
Congenital #myopathy with #ophthalmoplegia as a novel phenotype of ever expanding #titinopathy !-TL sciencedirect.com/science/articl…
bu kocaman proteini kodlayan gendeki mutasyonlar da #titinopathy ismi verilen dogum oncesi ve yeni dogan ve erken evre kas bozukluklari, kas kaybi ve cardiomyopathy dahil bir suru hastaliga sebep oluyor
#titinopathy Titin (TTN) geninde yer alan mutasyonlar miyopati (ARVC, FHC, FDC)gibi kalp kasi hastaliklari yani sira bazi iskelet kas hastaliklarina da yol acar. Bu calismada gende gorulen nonsense (anlam bozan)mutasyonlarin bulundugu noktanin hastalik seyrini etkiledigi gorulmus
#titinopathy Titin (TTN) geninde yer alan mutasyonlar miyopati (ARVC, FHC, FDC)gibi kalp kasi hastaliklari yani sira bazi iskelet kas hastaliklarina da yol acar. Bu calismada gende gorulen nonsense (anlam bozan)mutasyonlarin bulundugu noktanin hastalik seyrini etkiledigi gorulmus
@NHSVolResponder So grateful for your help. We are still shielding and have needed help with picking up my husband’s prescriptions. Thank you so much! #coronavirus #StayHomeStaySafe #titinopathy #musculardystrophy #grateful #angelsamongstus
This is why we haven’t left the house since early March #coronavirus #WearAMask #StayHomeSaveLives #titinopathy
This is why we haven’t left the house since early March #coronavirus #WearAMask #StayHomeSaveLives #titinopathy
Missense variants in the huge TTN gene present frequent diagnostic challenges. Some useful guidance for frequency thresholds, interpreting functional data and segregation studies available in the new JND issue here: bit.ly/2XbQ7D7 #titinopathy #myopathy #cardiomyopathy
Congratulations to Sarah for making a difference in a lot of people's lives! tapinto.net/towns/montvill… @MedicalCollege #musculardystrophy #titinopathy
College search: storiesfromourworld.wordpress.com/2019/05/28/col… #centronuclear #centronuclearmyopathy #myotubular #myotubularmyopathy #titinopathy #ourworld