AIIMS-CNMD
@AiimsCnmd
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AIIMS Comprehensive Neuromuscular Disorders Center (AIIMS-CNMD) is a virtual centre for AIIMS CNMD Clinic @AiimsNeurology
New Delhi, India
Joined July 2020
“This is a deeply significant moment for the FSHD community,” said Mark Stone. “For decades, patients and families have carried the burden of a disease with no treatment that addresses its root cause.” Read the full press release: https://t.co/tFtJrhzXbQ
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Since our founding in 1991, we've seen incredible scientific advances & increased support for #FSHDResearch. As we look towards #WorldFSHDDay, let's also remember where we come from & who helped us get where we are today. Read the full story on our blog: https://t.co/k98TSNgBFS
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Starlink Mini offers fast, reliable internet on the go—great for traveling, camping, exploring, boating, RVing, and more. Stay connected without dead zones or slow speeds. Order online in under 2 minutes.
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We're working behind the scenes to get everything ready to open registration for #WMS2025. Expect an announcement in the next couple of weeks. In the meantime, make sure dates, 7th-11th October, are in your calendar!
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Congratulations to consultant neurologist and professor of clinical neurology, Mary Reilly, on receiving an honorary MBE for services to #medicine. Her award was published yesterday, recognising those who have made an outstanding contribution to the UK: https://t.co/UFdBf7A9rO
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Congratulations to UCL IoN CNMD's Professor Mary Reilly, a globally renowned and award-winning clinical neurologist, who has been awarded an honorary MBE for her services to medicine. link to article here https://t.co/pcLvIhltwO
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JOB ALERT! MND Accelerator Award funded postdoctoral position in my lab @mrcppu is now LIVE. We will use pooled CRISPR screening of iPSC motor neurons to identify new targets for ALS/MND. To learn more & apply: https://t.co/RtBtZMDSqe Please help spread the word! Thank you.
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Today is LGMD Awareness Day! 💚 Help us Advocate - Educate - Celebrate limb-girdle muscular dystrophy. 💚Please share our post to help raise awareness. To learn more, visit https://t.co/737EGwYowk
#LgmdAwareness
#lgmdday2024
#TogetherWeAreStronger
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Today we mark Limb Girdle Muscular Dystrophy Awareness Day with this interview with Bjarne Udd, who has worked in neuromuscular disorders since the 1980s. He describes the early days of identifying family groups and how his team sequenced the Titin gene:
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So excited that our Sarasota friends are hosting a FUNdraiser to celebrate #LGMDAwarenessDay! Join them as they team up with #CureLGMD2i to raise money to drive research toward a cure for #LGMD2A #LGMDR1 #Calpainopathy #LGMD2i #LGMDR9
https://t.co/Sivd6dhtpX
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Venugopalan is an academic neurologist working as additional professor at the All India Institute of Medical Sciences, New Delhi, India. He will talk about neuromuscular disorders in India, where the new world meets the old. https://t.co/tsoMXfY9mM
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Aaanndd GO! We are now accepting submissions for late breaking abstracts for #WMS2024. Submit your most relevant, exciting, unpublished and recent neuromuscular disorders news. You must be registered to attend #WMS2024. The instructions are on our website: https://t.co/aRwo4Z2bFV
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Heather Hilsden was awarded a Leadership in Collaboration award at the @JainFoundation meeting. She has delivered the COS study over 16 sites in 9 countries for 10 years. Longest multicentre Natural History study in #LGMD which brought trial readiness closer to #dysferlinopathy👏
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Great to see our collaborative effort on the best practice guidelines on the genetic diagnostics of FSHD published in Clinical Genetics:
onlinelibrary.wiley.com
Minimal criteria for genetic confirmation of facioscapulohumeral muscular dystrophy.
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Best practice guidelines on genetic diagnostics of FSHD: Update of the 2012 guidelines - Giardina - Clinical Genetics - Wiley Online Library https://t.co/tPTzMgqEQS…
@FSHD_Leiden @FSHDSociety #FSHD @ClinGenetNews @pjtomas32 @ICGNMD @Gianina_Natoli @one333 @MaarelSilvere
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Delighted to lead new centre for UCL- working in this national partnership -we are finally in a position to translate our science into trials and disease modifying therapies for mito patients! @uclh @RobPitceathly @uclnews @4Lilyfoundation @MDUK_News @LondonMito @UCLBrainScience
A new £7.5million research centre led by Professor @MikeHanna18 & co-led by Professor @RobPitceathly funded by @lifearc1 will help thousands of people living with mitochondrial diseases to get access to improved diagnostics, treatments & potentially cures. https://t.co/TK7qrsa52f
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Saiu um trabalho muito interessante sobre Ataxia de Friedreich no estado de SP 👏👏👏👏
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Registration for WMS 2024 is open! Our 29th annual international annual Congress takes place in Prague, Czechia from 8th-12th October. Topics for #WMS2024 are acquired muscle disorders, neuromuscular disorders around the world, & RNA in NMD. Register now: https://t.co/7HJMkr8c0a
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The key to how extraocular muscles are spared in most #MuscularDystrophy ! TL https://t.co/OQhB0c970z
nature.com
Nature Communications - Extraocular muscles remain unaffected in muscular dystrophies. Here, the authors show that the gene fhl2b has a protective role in extraocular muscle and that its protective...
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