Enrico Bugiardini

Neurologist, Neuromuscular Disorders & Neurogenetics

[Enrico Bugiardini @E_Bugiardini]

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

[eBioMedicine – The Lancet Discovery Science @eBioMedicine]

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👇
https://t.co/lqd80phKfb

[Enrico Bugiardini @E_Bugiardini]

Great collaborative effort! Special thanks to Andrea Cortese for his excellent work. More to come! @UCL_QS_CNMD @UCLIoN @IonSynapse

[London Mitochondrial Centre @LondonMito]

This event is on tomorrow at Queen Square! Turn right after the NHNN reception desk & follow your nose to find us 🍰

#thelilyfoundation #thinkmito #lilycommunitea

[Enrico Bugiardini @E_Bugiardini]

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

[FSHDUK @FSHDUKgroup]

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

[ICGNMD @ICGNMD]

ICGNMD publishes1st Indian FSHD cohort https://t.co/RB6HEt6QtN 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

[vishnu v y @vishnuvy]

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.

[UCL_QS_CNMD @UCL_QS_CNMD]

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 https://t.co/hCazSguPt4

[Enrico Bugiardini @E_Bugiardini]

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

[NHNN Therapy & Rehabilitation @NHNN_therapies]

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 👏🏼👏🏼
https://t.co/qbA9MmZCQE

[Pedro Machado @pedrommcmachado]

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 👇

[Enrico Bugiardini @E_Bugiardini]

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 👉https://t.co/jJl9GxXBXi

[The Neurogenetics Lab UCL ION @IonSynapse]

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

[Stephanie Efthymiou, PhD FHEA🇨🇾🇬🇧 @StephanieEfthy1]

I am speaking at the #FOG2024 today at the Discovery Stage (#Bionano sponsored session) about out recent validation study using OGM to diagnose and characterise FSHD from @ICGNMD project @UCLIoN. 🧬

[Stephanie Efthymiou, PhD FHEA🇨🇾🇬🇧 @StephanieEfthy1]

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

[Enrico Bugiardini @E_Bugiardini]

@FSHDUKgroup Thrilled to be part of the first UK Research meeting organised by FSHD UK! Exciting collaboration ahead to advance research in #FSHD

[FSHDUK @FSHDUKgroup]

Introducing the FSHD UK Research Team

#research #fshd #uk #md #musculardystrophy #clinicaltrials #fshduk

[Enrico Bugiardini @E_Bugiardini]

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

[Nicholas Johnson @nickjohnson30]

Great MDCRN meeting to advance treatments for myotonic dystrophy, limb girdle muscular dystrophy and facioscapulohumeral muscular dystrophy! @childrensatvcu @VCUNeuro @MyoStrong @CureCalpain3 @FSHDSociety

[Enrico Bugiardini @E_Bugiardini]

@BrainAppeal @UCLIoN @RosetreesT Grateful to @BrainAppeal and @RosetreesT for their essential support on our project. A big thank you to @StephanieEfthy1 for her hard work in the lab! @UCL_QS_CNMD