@uniquecharity.bsky.socialWe have a new guide on#17p11.2 and #17p12 duplications - also known as #PotockiLupski syndrome (#PTLS), #CharcotMarieTooth disease type 1A (#CMT1A) or #YuanHarelLupski syndrome (#YUHALsyndrome).
Read our guide on 17p11.2 and #17p12duplications here:
https://ow.ly/zI4N50ZQSAw
Coming Soon: a #WordPress plugin that gathers biomedical research (currently locked to #CMT #CharcotMarieTooth, #Neuromuscular diseases, and #HereditaryNeuropathy) to make it easier to review and curate new publications. Learn more at cmt.blog. #NeuroSkyence #InvisibleDisability & #ChronicIllness
@theakarifoundation.bsky.socialđź”—Lee el artĂculo completo en el siguiente link: https://theakarifoundation.org/blog/la-fda-otorga-estatus-especial-a-tratamiento-de-la-enfermedad-de-charcot-marie-tooth
#TheAkariFoundation #enfermedadesraras #CharcotMarieTooth #CMT #CMT2S #VandaPharmaceuticals
@donnad.eurosky.socialSunshine in the UK today!
Fast trip to sort out my orthotics with a clinic visit to Surrey. Fingers crossed 🤞🏼
@dnatodaypodcast.bsky.socialSeptember is #CharcotMarieTooth Disease Awareness month!
Tune into this #sciencepodcast episode with advocates Bernadette Scarduzio & Allison Moore to learn more about #CMT and related nerve disorders ⬇️⬇️⬇️
dnapodcast.com/episodes/201...
@golgigolgigolgi.bsky.socialWas informed by my #neurologist that this #Wyeth painting depicts a woman with Charcot Marie Tooth disease... and then she diagnosed me with it.
I've rolled around in the hills of the Brandywine (in khaki shorts, secondhand Merrells, also on shrooms) this is literally me.
@dmmjournal.bsky.social#CharcotMarieTooth disease variants of HSPB1 decrease signalling in young animals and accelerate the aging process.
Check out the Research Article for free by Iman Aolymat and Jeff W. Barclay: doi.org/10.1242/dmm....
