Neurologist, Neuromuscular Disorders & Neurogenetics
London, England
Joined December 2012
- Tweets128
- Following166
- Followers240
- Likes406
Inspiring days at the FSHD CTRN meeting in Richmond discussing strategies for clinical trial development. Great presentations from the FSHD UCLH team - Iwona Skorupinska and Jose Mengibar! #fshd #ClinicalTrials @FSHDUKgroup @UCL_QS_CNMD
Enrico Bugiardini retweeted
Researchers @UCLeye have revealed tissue-specific somatic instability underlies a common age-related cause of visual loss. Translationally relevant findings for repeat-expansion mediated diseases #OpticalGenomeMapping #RepeatExpansions
Read #openaccess👇
tinyurl.com/e9c6ukjz
Great collaborative effort! Special thanks to Andrea Cortese for his excellent work. More to come! @UCL_QS_CNMD @UCLIoN @IonSynapse
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Enrico Bugiardini retweeted
This event is on tomorrow at Queen Square! Turn right after the NHNN reception desk & follow your nose to find us 🍰
#thelilyfoundation #thinkmito #lilycommunitea
Join us in supporting the @4Lilyfoundation in their Communi-TEA campaign by eating cake! justgiving.com/page/queen-sq…
Thank you @FSHDUKgroup ! It was great organising this patient engagement day together. I was thrilled to see so much interest and participation.@UCL_QS_CNMD @FSHDSociety
Fantastic FSHD patient engagement day hosted by UCLH/FSHD UK! Informative and great audience participation. Thanks to everyone who attended! See you at the next one.
#md #fshd #london #patientEngagement #clinicaltrials #fshduk
Enrico Bugiardini retweeted
ICGNMD publishes1st Indian FSHD cohort nature.com/articles/s41431-0… AIIMS, Delhi, Leiden University Medical Centre & UCL London show overlapping but distinct FSHD genetics compared to Europe, underscoring importance of global rare disease research @vishnuvy @E_Bugiardini @FSHD_Leiden
Enrico Bugiardini retweeted
Great team work to explore FSHD genetics in India. Many thanks to @FSHD_Leiden group- Richard Lemmers, Patrick and @MaarelSilvere and UCL team @E_Bugiardini @StephanieEfthy1 @w_macken @MikeHanna18 and our fellows at AIIMS Alisha, Rinkle and Tanveer and our mentor Prof.Padma.
ICGNMD publishes1st Indian FSHD cohort nature.com/articles/s41431-0… AIIMS, Delhi, Leiden University Medical Centre & UCL London show overlapping but distinct FSHD genetics compared to Europe, underscoring importance of global rare disease research @vishnuvy @E_Bugiardini @FSHD_Leiden
Enrico Bugiardini retweeted
Don't miss out - Early Bird rates end this week for UK Neuromuscular Translational Research Conference! 17th and 18th April 2024 See the latest programme and register here bit.ly/3GOXhUY
Exciting experience presenting on current therapeutic advancements in #FSHD #MDAconference. It was a pleasure meeting colleagues and discussing ongoing research in FSHD. @UCL_QS_CNMD @FSHDSociety @FSHDUKgroup @MDUK_News
Enrico Bugiardini retweeted
Big congratulations to @JodiAllenSLT for this fantastic paper with colleagues & patient co-authors at @UCL_QS_CNMD @ucl @uclh on what it is like to live with dysphagia due to myotonic dystrophy 👏🏼👏🏼
content.iospress.com/article…
Enrico Bugiardini retweeted
Excellent career development opportunity with a supportive team! Possibility to discuss future PhD projects and fellowship applications for those pursuing academic opportunities. @UCL_QS_CNMD @UCLIoN @UCLBrainScience @UCLHresearch Apply by 13/02/2024 👇
Exciting Opportunity! Join our team as a Clinical Fellow in Neuromuscular Diseases @UCL_QS_CNMD. Contribute to cutting-edge research on FSHD, IBM, and mitochondrial diseases. @UCLIoN @pedrommcmachado @RobPitceathly
Apply here 👉uclh.nhs.uk/work-with-us/cur…
Exciting Opportunity! Join our team as a Clinical Fellow in Neuromuscular Diseases @UCL_QS_CNMD. Contribute to cutting-edge research on FSHD, IBM, and mitochondrial diseases. @UCLIoN @pedrommcmachado @RobPitceathly
Apply here 👉uclh.nhs.uk/work-with-us/cur…
Enrico Bugiardini retweeted
Dr Andrea Cortese, Research Group Leader @UCLIoN presenting “Optical genome mapping in inherited neurological diseases” at Festival of Genomics & Biodata 2024, session sponsored by @bionano #FOG2024 @FLGenomics @UCLBrainScience @UCL_QS_CNMD – at London, England
Enrico Bugiardini retweeted
Thank you to @bionano and @FoGenomics for the kind invitation but also the UCL team for supporting this work @IonSynapse @E_Bugiardini @MikeHanna18 and collaborators @vishnuvy @FSHD_Leiden – at East Ham, London
Enrico Bugiardini retweeted
Introducing the FSHD UK Research Team
#research #fshd #uk #md #musculardystrophy #clinicaltrials #fshduk
QS FSHD team at Richmond for the annual FSHD CTRN meeting. Great to meet friends, colleagues and discuss exciting results of ongoing studies for #fshd trial readiness @UCL_QS_CNMD @FSHDUKgroup
Enrico Bugiardini retweeted
Great MDCRN meeting to advance treatments for myotonic dystrophy, limb girdle muscular dystrophy and facioscapulohumeral muscular dystrophy! @childrensatvcu @VCUNeuro @MyoStrong @CureCalpain3 @FSHDSociety
Enrico Bugiardini retweeted
📢Come join our mitochondrial team at Queen Square! @RobPitceathly @MikeHanna18 @ChiaraPizzamig @E_Bugiardini @w_macken We are looking for a full-time clinical fellow. If you're passionate about advancing healthcare and making a difference, apply now! uclh.nhs.uk/work-with-us/cur…
Enrico Bugiardini retweeted
Happy to share our latest paper where we compare two techniques for measuring contracted allele size in FSHD disease – Southern blotting and Bionano Optical Genome Mapping.
@ICGNMD @IonSynapse @FSHD_Leiden @vishnuvy @E_Bugiardini @MikeHanna18
mdpi.com/2218-273X/13/11/156…
