Journal of Neuromuscular Diseases @journal_nd
JND | Dedicated to expediting our understanding & improving treatments of neuromuscular diseases | Editors: Carsten G. Bönnemann & Hanns Lochmüller iospress.com/journal-of-neu… SME: G.McMacken Joined July 2018-
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📷 What's new in #JournalJND ? 📷 Real-world data is bridging gaps in treating infants with Spinal Muscular Atrophy (SMA), leading to improved outcomes. This breakthrough sheds light on early-stage SMA treatment options. Read the full Press Release at: bit.ly/PR_JND11-2_SMA
📢New paper out in @journal_nd 🧬#CNAG performed the analysis of #WGS data within the @Solve_RD ➡️Variant filtering & prioritisation was performed by @SJDbarcelona_es (Daniel Natera & @Bertaestevez_) using RD-Connect GPAP, developed & hosted by CNAG 🔗n9.cl/6uaoo
Partner Post from the RRD-Foundation: Unlock the Secrets to Managing Metabolic Myopathies! Join us for an immersive 3-day course on May 16-18, 2024. Led by a team of world-renowned experts. Spots are limited - secure yours today: bit.ly/49leXUS
Breakthrough in DMD Treatment! #Vamorolone, a promising new drug for Duchenne Muscular Dystrophy, gets a spotlight in the Journal of Neuromuscular Diseases. 🔍 Read the full commentary for in-depth insights: bit.ly/3tX8zUx
📣 We are excited and proud to announce that our 10th anniversary issue is now online! Read the editorial on a decade of JND here: bit.ly/3tBNkr9 #neuromuscular #neurology
➡️Next #EURONMD webinar w/ @ERN_RND & @EANeurology 📚 "Cognitive symptoms in myopathies" delivered by Dr. Jens Reimann (Department of Neurology, University Hospital Bonn, Germany) 📅Jan 4th 2024 at 16:00 CET ℹ️Registration here 👉bit.ly/3uUxMyJ
🆕 From our latest issue, Di Leo et al show that resistance exercise training rescues mitochondrial deficiency in #myotonicdystrophy 💪🏻 Read the research here bit.ly/3tnJlxY #JND #DM1 #mitochondria
Exciting News in Genetic Diagnosis! Our researchers have pioneered a groundbreaking workflow closing the gap in detecting 5q-Spinal Muscular Atrophy (5q-SMA). 🌐 Read about the innovative approach in the Journal of Neuromuscular Diseases: bit.ly/3FYGGgX
#apaperaday today's pick is from @journal_nd; a review paper by Fortunato and Ferlini on biomarkers for Duchenne muscular dystrophy. Yuzu first wanted another paper, but then also made confetti from today's pick. DOI: 10.3233/JND-221666
Following the recent exciting approval of #vamorolone for #DMD, check out this timely review in our latest issue, covering efficacy, mechanism and side effects 📚 Full review here ➡️ bit.ly/3SCcHmy #duchenne #musculardystrophy
IOS Press is proud to announce its acquisition by @Sage_Publishing, bringing together two passionate, independent academic publishers. This collaboration will enrich the Sage portfolio, from AI to neuroscience, and build on IOS Press's 36-year legacy of excellence. Read more:
👁️ Could extraocular muscle #MRI help to differentiate causes of ophthalmoplegia? Researchers @LUMC_Leiden describe MRI findings in #myasthenia vs #OPMD #CPEO and Graves Full #openaccess paper here ➡️ bit.ly/3SaEf2n
Informative Review on the Transformative Influence of iPSCs on Neuromuscular Pathogenicity. Congrats @LeslieCaron14 , Stefano, Frédérique!
Informative Review on the Transformative Influence of iPSCs on Neuromuscular Pathogenicity. Congrats @LeslieCaron14 , Stefano, Frédérique!
📚 The amazing innovations and challenges of hiPSCs in muscle disease research. This review is really worth a read for experts and non-experts alike! Check it out here ➡️ bit.ly/3tnahxt #stemcells #neuromuscular #myotwitter
Could higher dose #nusinersen lead to greater clinical benefit for #SMA? Read about the DEVOTE study and results from part A here ➡️ bit.ly/48wqSPs #spinalmuscularatrophy #openaccess #neuromuscular
Highly recommend listening to this podcast by @journal_nd where Carsten Bonneman @IRPatNIH helps understand the issues around Safety and Challenges of Gene Therapy. open.spotify.com/episode/7F4dRy…
How do you reduce/discontinue immunoglobulin treatment for #CIDP? Markvardsen et al investigate stepwise tapering of SCIG over 60 weeks. Full #openaccess report here ➡️ bit.ly/451uN3V #neuropathy #neuromuscular #journal_ND
Our latest issue is now available online! Highlights include papers on #CIDP #SMA #GNEmyopathy and #myasthenia. And of course ALL papers are #openaccess Check it out here ➡️ bit.ly/3Lk5Zxj
Matthew S. Alexander @Matt_Muscle_Guy
5K Followers 4K Following Geneticist, Skeletal Muscle, Drug development, Gene therapies. Non-coding RNA, and Zebrafish Aficionado. All tweets are my own. Instagram @thealexanderlab
AnnemiekeAartsma-Rus @oligogirl
3K Followers 486 Following Translating science from bench to bedside and from jargon to lay language
WMS @WorldMuscleSoc
2K Followers 663 Following We invite you to the 28th International Annual Congress of the World Muscle Society in 2023. This is the premier annual Congress on #neuromuscular disorders.
TREAT-NMD @TREAT_NMD
4K Followers 565 Following Advancing diagnosis, care and treatment for those living with neuromuscular diseases around the world
JWMDRC @jwmdrc
1K Followers 501 Following John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University #dmd #sma #lgmd #fshd #dm1 #gne #col6 #cnm
Melissa Bowerman @BowermanNMD
2K Followers 2K Following Senior Lecturer in Neuromuscular & Skeletal Disorders, Keele University. I research pathologies and new treatments in rare genetic disorders. Opinions my own.
Muscular Dystrophy Ca.. @MD_Canada
5K Followers 1K Following MDC's mission is to help people with neuromuscular disorders live life on their own terms. #WalkRollMDC #MuscularDystrophy FR: @Action_Musclee
A/Prof Gina Ravenscro.. @Gianina_Natoli
2K Followers 3K Following NHMRC EL2 Fellow | Honorary Patricia Kailis Fellow | Mum,scientist,wife (Alphabetical Order) | Rare diseases & neurogenetics.
Capucine Trollet @CapucineTrollet
604 Followers 614 Following Cell and molecular biologist @INSERM @Sorbonne_Univ_ @researchmyology #muscleregeneration #muscleaging #OPMD #celltherapy #genetherapy #aggregate #fibrosis
ENMC @_ENMC
1K Followers 379 Following
Muscular Dystrophy UK @MDUK_News
18K Followers 3K Following We connect a community of over 110,000 people living with muscle wasting and weakening conditions. Together we are stronger. Join us. Our #MusclesMatter.
Jordi Díaz-Manera @querques2000
772 Followers 968 Following Professor of Neuromuscular Diseases at Newcastle University @jwmdrc. Passionate about clinical and basic research, but also about wine, sport, music and books.
Centre for Muscle Res.. @UniMelbCMR
3K Followers 1K Following Advancing muscle biology and its importance in health and disease. #myotwitter #sarcopenia #myology #skeletalmuscle #musculoskeletal #neuromuscular #cachexia
Tom Gillingwater @GillingwaterLab
3K Followers 833 Following Professor of Anatomy, University of Edinburgh. FRSE, HonFAS, FRSB. Husband, Dad, owned by a Lakeland Terrier. My opinions (retweet≠endorsement)
Lochmüller Lab @LochmullerLab
798 Followers 345 Following Hanns Lochmüller's research lab in Ottawa, Canada. Clinical and basic research in neuromuscular and rare disease. Tweets by Hanns and team.
SMA-Europe @SMAEurope
2K Followers 1K Following SMA Europe is a non-profit umbrella organisation of spinal muscular atrophy (SMA) patient organisations from across Europe. All together. One goal.
Helen Walker @helenmwalker44
657 Followers 1K Following UK Myotonic Dystrophy and UK FSHD Patient Registry Manager and Curator (she/her) *Views my own* #neuromuscular #PatientRegistries #dm1 #dm2 #fshd #RareDisease
Alyson Fiorillo, PhD @AlysonAFiorillo
560 Followers 706 Following Assistant Professor working towards therapeutics for Duchenne Muscular Dystrophy. Tweets are my own.
Virginia Arechavala @VArechavala
2K Followers 2K Following Scientist and mum. @ikerbasque Professor @biocrucesHR Interested in #RNAtherapy for #neuromuscular disorders. De Bilbao de toda la vida and adopted Londoner.
Dr Katherine Forsey @DrBiol
3K Followers 4K Following Chief Research Officer | Charcot-Marie-Tooth Association @CMTAusa #CMTASTAR #CMTresearch CSciTeach | STEM Ambassador
Tedesco Lab @lab_tedesco
332 Followers 154 Following Studying human muscle regeneration to develop therapies for neuromuscular diseases (@ UCL & The Francis Crick Institute)
Sudhir Sharma @SudhirSharmaSDS
12 Followers 453 Following
Falya Vanessa De Trin.. @FalyaDe
4 Followers 154 Following
Daniel Jin @TaegunjinPMR
23 Followers 267 Following pm&r residency @MCW_PMR | Neuromuscular fellowship @UCLANeurology | New account @tgjin1990
Pedro Canales Otto @canales_otto
2 Followers 60 Following
Oksana P @OksanaP44748236
0 Followers 34 Following
AngeliaBurzynski @AngeliaBur46125
7 Followers 612 Following
Arman Cakar @Arman_Cakar1
30 Followers 247 Following Neuromuscular Unit, Istanbul Faculty of Medicine, Fellow @ UCL Queen Square IoN
kirubakaranpalaniyapp.. @kirubakaranpal1
1 Followers 21 Following
Antonia Galilea @GalileaAntonia
2 Followers 65 Following
Mohamed Ali @ma8535847
0 Followers 74 Following
the master @pablo_arias_s
4 Followers 64 Following
Treves/Sinnreich Lab @NeuroMuscLab
8 Followers 47 Following 🔬Research lab specialized in Neuromuscular Disorders 👨🔬Group Heads: Treves/Sinnreich 📍@DepBiomedicine @UniSpitalBasel🇨🇭
م..عبدالكري�.. @ENGALALKAMI1985
13 Followers 147 Following
Sophie Orchard @SB_Orchard
8 Followers 179 Following Current MSc Psychological Research Methods Student at the University of Nottingham; BSc Psychology Graduate 2023
TDH-TK @tdh_tk
93 Followers 1K Following
MAAV @MARAV1992
0 Followers 30 Following
Linda Bouqs @LBouqs
0 Followers 32 Following
Dr. Valeriu Gold @DrVGold
17 Followers 8 Following
Fatimah Neithercutt @FNeithercu4101
81 Followers 5K Following
RYAN LEVI WEDDLE @RYANLEVIWEDDLE
498 Followers 6K Following HELLO THERE MY NAME IS RYAN LEVI WEDDLE, I'AM A TECH SAVY ENTHUSIAST THAT LIKES FOOD, ANIMALS, DOGS AND GAMING, ETC.
Casey Milteer @milte_ca
73 Followers 5K Following
Maria Del Carmen Amad.. @MCamu23202304
1 Followers 61 Following
Kiyana Ellison @Kiyana_Ellison
18 Followers 42 Following Future Physician, 2026 🩺| Dog Mom 🐕| OMS-II interested in #Physiatry
Neal_Niu @Neal_Niu
23 Followers 999 Following
OANA AURELIA VLADACEN.. @OanaVladacenco
28 Followers 77 Following
Ryan Marks @ryanmmarks
78 Followers 605 Following gene editor 🧬 • PhD candidate Molecular Genetics @uoftmedicine • Connaught Public Impact Fellow @uoft • Cohn Lab Genetics & Genome Biology @SickKidsNews
Gishlaine Alfonso @GishlaineAlfon2
3 Followers 130 Following
Carol Willis @piggles12
7 Followers 291 Following
Aicee Calma @AiceeCalma
1 Followers 48 Following
Benjamin Beland @BenFBeland
71 Followers 106 Following Neurology Resident. @DCNSNeuro @McGillMed Alum #gohabsgo
mariana bendersky⭐�.. @mariandesalta
3K Followers 3K Following FORMADA EN LA UNIVERSIDAD PUBLICA ❤️neurocosa e ilustradora 🇦🇷 anatomista, neurofisiologa
NeurosaludGYE @neurolgye
146 Followers 697 Following Neuróloga. Master en Atención Integral al Niño. Master en Neurociencias y Biología del Comportamiento
seysey(nana) @seysey2017
261 Followers 240 Following 息子6歳が筋ジスDMD、ひとり親世帯主です。 患者当事者・ご家族とつながっていきたいと思っています。 ご遠慮なくDMくださいね。 I have a boy, Sey (6 yo), who lives with DMD. 7 of the group Seven Seas.
Jyoti Raghunandan @JyotiRaghunand1
2 Followers 36 Following
Chinwe freda @ChinweF70408
53 Followers 299 Following
S.Balasubramanian @sbalav
25 Followers 252 Following Engineer | தமிழன் டா | Interested in public affairs
Shalini Gupta @Shalini_IACS
20 Followers 182 Following An OCD patient exploring biology as a chemist.
Laura Pirra @PirraLaupirra
0 Followers 67 Following
John.m.Hannah @JohnmHannah72
6 Followers 77 Following
Dr. Eshan Dabhade @eshand
24 Followers 332 Following M.B.B.S, M.D (Ped), DrNB (Medical Genetics) Clinical Geneticist at Lilac Insights Pvt. Ltd.
NYSPMR @NYSPMR
1K Followers 364 Following New York Society of Physical Medicine and Rehabilitation. Representing and spreading the ideals of physiatry in the tri-state area since 1921.
Neurology Journal @GreenJournal
92K Followers 1K Following Neurology is the most widely read and highly cited peer-reviewed neurology journal. It is the medical journal for the American Academy of Neurology.
Matthew S. Alexander @Matt_Muscle_Guy
5K Followers 4K Following Geneticist, Skeletal Muscle, Drug development, Gene therapies. Non-coding RNA, and Zebrafish Aficionado. All tweets are my own. Instagram @thealexanderlab
AnnemiekeAartsma-Rus @oligogirl
3K Followers 486 Following Translating science from bench to bedside and from jargon to lay language
WMS @WorldMuscleSoc
2K Followers 663 Following We invite you to the 28th International Annual Congress of the World Muscle Society in 2023. This is the premier annual Congress on #neuromuscular disorders.
Brain @Brain1878
65K Followers 172 Following Brain: A Journal of Neurology. Publishing leading studies in neurological science since 1878.
TREAT-NMD @TREAT_NMD
4K Followers 565 Following Advancing diagnosis, care and treatment for those living with neuromuscular diseases around the world
JWMDRC @jwmdrc
1K Followers 501 Following John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University #dmd #sma #lgmd #fshd #dm1 #gne #col6 #cnm
JAMA Neurology @JAMANeuro
60K Followers 250 Following JAMA Neurology is a member of the JAMA Network, a consortium of peer-reviewed, general medical and specialty publications.
Melissa Bowerman @BowermanNMD
2K Followers 2K Following Senior Lecturer in Neuromuscular & Skeletal Disorders, Keele University. I research pathologies and new treatments in rare genetic disorders. Opinions my own.
Muscular Dystrophy Ca.. @MD_Canada
5K Followers 1K Following MDC's mission is to help people with neuromuscular disorders live life on their own terms. #WalkRollMDC #MuscularDystrophy FR: @Action_Musclee
A/Prof Gina Ravenscro.. @Gianina_Natoli
2K Followers 3K Following NHMRC EL2 Fellow | Honorary Patricia Kailis Fellow | Mum,scientist,wife (Alphabetical Order) | Rare diseases & neurogenetics.
Capucine Trollet @CapucineTrollet
604 Followers 614 Following Cell and molecular biologist @INSERM @Sorbonne_Univ_ @researchmyology #muscleregeneration #muscleaging #OPMD #celltherapy #genetherapy #aggregate #fibrosis
ENMC @_ENMC
1K Followers 379 Following
Muscular Dystrophy UK @MDUK_News
18K Followers 3K Following We connect a community of over 110,000 people living with muscle wasting and weakening conditions. Together we are stronger. Join us. Our #MusclesMatter.
AFM-Téléthon @Telethon_France
138K Followers 4K Following Compte officiel. L'AFM-Téléthon est une association de malades et parents de malades.
Centre for Muscle Res.. @UniMelbCMR
3K Followers 1K Following Advancing muscle biology and its importance in health and disease. #myotwitter #sarcopenia #myology #skeletalmuscle #musculoskeletal #neuromuscular #cachexia
Tom Gillingwater @GillingwaterLab
3K Followers 833 Following Professor of Anatomy, University of Edinburgh. FRSE, HonFAS, FRSB. Husband, Dad, owned by a Lakeland Terrier. My opinions (retweet≠endorsement)
David J Glass MD @davidjglassMD
5K Followers 3K Following book: Experimental Design for Biologists. Journal: Skeletal Muscle. Focus areas: Aging; Muscle. Works for a biotech company; views are mine.
EURORDIS-Rare Disease.. @eurordis
32K Followers 2K Following An alliance of over 1,000 patient organisations working across borders and diseases to improve the lives of all people living with rare diseases.
Lochmüller Lab @LochmullerLab
798 Followers 345 Following Hanns Lochmüller's research lab in Ottawa, Canada. Clinical and basic research in neuromuscular and rare disease. Tweets by Hanns and team.
gain @gaincharity
1K Followers 597 Following Support for those affected by Guillain-Barré syndrome, CIDP and associated inflammatory neuropathies. Reg. Charity 1154843 & SCO39900
GBS|CIDP Foundation @gbscidp
2K Followers 1K Following To support those affected by GBS|CIDP & variants so each patient obtains an early diagnosis, proper treatment &the opportunity for a full recovery #raredisease
Dave Arnold @DaveArnoldLab
1K Followers 2K Following We are interested in motoneuronal maintenance and repair in health, aging, and disease. Translational NM physiology. PM&R, Neurology. @MUHealth @MizzouPMR
Hermien Kan @kan_hermien
298 Followers 297 Following Associate Professor of Radiology, with focus on quantitative MRI and skeletal muscle. Mastodon: @[email protected]
Carlo Rinaldi @rinaldi_ca
275 Followers 328 Following Neuroscientist at the University of Oxford • PI @The_R_lab • Molecular and Translational Neuroscience • he/him/his
Oxford_IDRM @IdrmOxford
1K Followers 2K Following The Institute of Developmental & Regenerative Medicine combines cardiovascular science, neuroscience and immunology to find new drugs and therapies.
Jeremy Moeller @yaleneuropd
2K Followers 88 Following Proud Program Director of @yaleneurons, Clinical Neurologist and passionate about #MedEd and #EEG. On Instagram @yaleneuropd My personal opinions only!
IICN @IICN_ie
293 Followers 137 Following Irish Institute of Clinical Neuroscience promotes the Academic Clinical Neurosciences in the Republic of Ireland and Northern Ireland. RCN20012694
Mainak Bardhan | ম�.. @mainak_bardhan
693 Followers 2K Following Research associate @MiamiCancerInst | Ex-Scientist @icmrdelhi 🇮🇳 | Medical Doctor @NIMHANS_BLR | #doubledocs #Neurology #Genetics #oncology #infection
kiran polavarapu @kinnudreamz
54 Followers 147 Following
Aaron S. Zelikovich, .. @aszelikovich
3K Followers 984 Following @WCMCNeurology PGY-4 || @PennNeurology Neuromuscular Fellow 2024-2025 || #MedEd || Clinical Trials || #NeuroTwitterNetwork ||
Genomics Unravelled @genomicsunravel
121 Followers 56 Following Educational podcast about the future of genomics in healthcare🧬🩺 Hosted by Angela Lochmüller & @LydiaSeed. Edited by @ShokoHirosue. @cambridge_uni
Javier Güeita @GueitaJ
715 Followers 546 Following Fisioterapeuta, terapia acuática en neurología. Univ Rey Juan Carlos, Madrid. International Aquatic Therapy Faculty (IATF), Suiza. Investigando en @HumQRinHS
Natalia Morgulec-Adam.. @MorgulecNatalia
45 Followers 43 Following Associate Professor at the Faculty of Rehabilitation, AWF Warsaw: SCI, exercise physiology, wheelchair rugby, wheelchair basketball, APA, inclusion
FeigeLab @FeigeLab
1K Followers 355 Following Translational research on Muscle and Aging biology / NIHS Nestle Institute of Health Sciences / @EPFL Ecole Polytechnique Fédérale de Lausanne
Colin Simon @ColinisSimon
150 Followers 208 Following Neuroscientist researching stroke rehabilitation using neurofeedback. I am one with the data, and data is with me. Aikido practitioner, hobby baker and hiker.
AngelaGenge @genge_angela
422 Followers 124 Following Neurologist. Director ALS Centre of Excellence and Phase 1 Unit @TheNeuro_MNI. Leading the way in clinical trials for ALS/MND. Opinions my own
Myogenesis Discussion.. @MyogenesisGroup
949 Followers 196 Following A virtual discussion group on skeletal/smooth/cardiac muscle funded by @MbD_UofT, @UofT, organized by @RokMatthew, @RaileanuVanessa, and @xu_bellaxixi
Armando Villalta @VillaltaLab
286 Followers 441 Following Muscle immunologist aiming to understand how immune cells aid in muscle homeostasis and immune dysregulation contributes to disease
Nancy Yu @nancyyu25
790 Followers 563 Following CEO of @_allstripes. Ex-23andme. My mission is to change how drug development happens, starting with rare disease. Roommates with @j_richards27
Dr Hazel Allardyce @hazelAllardyce_
264 Followers 283 Following Postdoctoral Research Fellow in Parson Lab - Aberdeen University Anatomist researching non-neuronal pathology of spinal muscular atrophy
F Jeffrey Dilworth @EpigeneticsYOW
552 Followers 335 Following Stem cell scientist at the University of Wisconsin - Madison. Interested in all things epigenetics, transcription, muscle regeneration, and aging.
ProDGNE @ProDGNE
121 Followers 162 Following #ProDGNE unifies European and Canadian efforts to develop a novel #prodrug as a therapeutic approach for #GNEMyopathy, a #rare 🧬 muscle disease #EJPRD #JTC2020
Dumonceaux lab @MyologyLab
244 Followers 107 Following Our group focuses on the development of therapeutic solutions for muscle diseases and FSHD in particular.
Oligonucleotide Thera.. @OTSociety
4K Followers 1K Following A nonprofit forum to foster academia and industry based research and development of oligonucleotide therapeutics.
Mattia Quattrocelli @mattiaquattro
2K Followers 991 Following Scientist investigating epigenetic and circadian determinants of striated muscle function and metabolic health. Assistant Professor, Cincinnati Children’s-UC.
Susanne Driffield @s_driffield
511 Followers 1K Following Regional Development Manager at Muscular Dystrophy UK. Proud Trustee of Disability Action Yorkshire. Mum to my DMD superhero Joe. All views are my own.
AllStripes @_allstripes
3K Followers 1K Following Our mission is to unlock new treatments for people affected by rare disease.🚀
Abigail Mackey @AbigailMackey1
3K Followers 2K Following Clinical Professor of Muscle Physiology and Regeneration after Traumatic Soft-tissue Injury | @ISMCopenhagen | https://t.co/FiprKJTBs7
Fabien Le Grand @LeGrandLab1
1K Followers 507 Following Researcher in muscle cell biology. Addicted to signaling pathways (Wnt, Tgfb, Bmp). PI at Institut NeuroMyoGène.
Brian Glancy @brianglancylab
3K Followers 2K Following Muscle Energetics Laboratory. We study how muscles are built to sustain power with a focus on mitochondrial energy metabolism.
Prof Tara Spires-Jone.. @TSpiresJones
8K Followers 4K Following Neuroscientist. Prof @EdinburghUni Group Leader @UKDRI founding editor @BrainComms President @BritishNeuro (you can call me madame president). she/her 🧠 🔬 📚
Mike Hildebrand @mikehildebrand7
1K Followers 977 Following Professor, Carleton University, Research on spinal mechanisms of pain.
Stephanie Efthymiou, .. @StephanieEfthy1
579 Followers 981 Following @ICGNMD Post-doc Fellow at Queen Square. Proud member of the Houlden lab @IonSynapse Leventis Scholar Passionate about EDI 🙎🏻♀️🙍🏽♂️✋🏿✋🏽✋🏻🌈♿️
Hamilton Health Scien.. @HamHealthSci
21K Followers 2K Following We provide specialized care to people of all ages from across Ontario. Account monitored 9 a.m. - 9 p.m. Follow MCH at @mch_childrens.
Ozlem Yayıcı Köken.. @oyk60336441
139 Followers 364 Following Alaz’ın annesi💙,Pediatrist🐣, Çocuk Nöroloğu🧠,Tibbi Genetik Doktora Ögrencisi🧩; Mum of Alaz, Pediatrician, Child Neurologist, PhD student at Medical Genetics
Bauché Stéphanie @Bauche_Steph
84 Followers 70 Following PhD in neurobiology Specialist of neuromuscular junction and congenital myasthenic syndromes
Stephen Holland @stephenhholland
518 Followers 1K Following PhD Candidate at University of Ottawa studying Cellular Molecular Medicine with the Lochmüller Lab. AH❤🏴🏴🇨🇦 #COYI #COYBIG #Sens
Dan Michele @MicheleLabUM
2K Followers 1K Following Professor and Chair, Department of Molecular & Integrative Physiology University of Michigan @UMPhysiology @umichCVC @umich https://t.co/IUbexuCzm4
Jenni Laitila @LaitilaJenni
52 Followers 62 Following Researcher in the field of #nemalinemyopathy and #raredisease. Finn at heart and an honorary Aussie. @FolkhalsanRC @helsinkiuni @UCPH_health 🧘♀️👩🔬🏄♀️
Laura Heezen @LauraHeezen
152 Followers 220 Following PhD student at LUMC, Leiden, studying spatial transcriptomics in neuromuscular disorders.
Seun Elizabeth Kuyoor.. @SKuyooro
39 Followers 176 Following Biochemist||Metabolic Health and Disease Research(Obesity,diabetes,cancer and cardiovascular diseases) || [email protected] || [email protected]
Holm Graessner @Holmson69
332 Followers 165 Following Health Care and Research Manager - Rare Diseases - Europe
Alyson Fiorillo, PhD @AlysonAFiorillo
560 Followers 706 Following Assistant Professor working towards therapeutics for Duchenne Muscular Dystrophy. Tweets are my own.
The Neurogenetics Lab.. @IonSynapse
912 Followers 661 Following The Neurogenetics lab @UCLION led by Professor Henry Houlden is dedicated to discovering new genes and disease mechanisms linked to neurological disorders
Duchenne Data Foundat.. @DuchenneDF
714 Followers 452 Following Bringing data to life to improve the world of dystrophinopathies
Mike Devine @NeuroMikeD
568 Followers 476 Following Researching synapses and mitochondria @TheCrick | Neurologist, National Hospital for Neurology & Neurosurgery
Tuan Bui @TuanBuiLab
779 Followers 726 Following Lab of Dr. Tuan Bui in the Biology Dept @ uOttawa. Neural Circuits for Movement. Also @[email protected]
MYOS @MYOS_SCN
81 Followers 73 Following The neuroMuscular YOung Scientists (MYOS) program of @SpierziektenCN for young researchers in neuromuscular diseases in The Netherlands#apaperaday Today's pick is about a missense variant in the dystrophin gene that might be associated with dilated cardiomyopathy and skeletal myopathy from d'Apolito et al in @IJMS_MDPI DOI: 10.3390/ijms25052787
Join us and @MD_Canada NEXT WEEK at our CPD-accredited webinar, "Updates on newborn screening for #SpinalMuscularAtrophy and #PompeDisease". 📅Tue Apr 2, 2024 🕝5:00pm ET 🔗Register at: bit.ly/NMDNBS2024 #LetsTalkNMD
Reminder! Register for our next CPD-accredited webinar, Updates on newborn screening for #SpinalMuscularAtrophy and #PompeDisease, hosted together with @MD_Canada. 📅Tue Apr 2, 2024 🕝5:00pm ET 🔗Register at: bit.ly/NMDNBS2024 #LetsTalkNMD
➡️Gene Therapy webinar series organized by #EURONMD w/ @ERN_RND @EpiCARE_ERN @EANeurology. 📚 Episode 1, delivered by Dr. Francina Munell Casadesus (Hospital Universitari Vall D'Hebron) & Prof. Laurent Servais (University of Oxford) Register here👉lnkd.in/emu8y-qr
Join us and @MD_Canada at our next CPD-accredited webinar, Updates on newborn screening for #SpinalMuscularAtrophy and #PompeDisease, chaired by Dr. Alex Mackenzie (@CHEO). 📅Tue Apr 2, 2024 🕝5:00pm ET 🔗Register at: bit.ly/NMDNBS2024 #LetsTalkNMD
#apaperaday Today's pick is from @journal_nd by Nicolau and @KevinMFlanigan on a clinical trial for exon skipping with approved antisense oligonucleotides (ASOs) in Duchenne patients with single exon duplications DOI: 10.3233/JND-230107
It's #RareDiseaseDay and we want to make it special by announcing the dates and place of our final ProDGNE meeting! 📌Mark your calendar & join us in #Cagliari🇮🇹 on 19-20 April for a networking event on #GNEMyopathy, Research, #PatientPartnership & collaboration in RareDiseases
Our lab is still seeking a PhD student to join our team at the CHEO RI! Make sure you submit your application before our deadline of March 8th, 2024. 🔗More information: lochmullerlab.org/files/Lochmull… #DM1 #myotwitter #PhD #opportunity #funding
We are seeking a PhD student to join our team at the CHEO RI! The project involves work with cell models, biomarker studies, and mechanistic investigations into #DM1 as part of the @uOttawaBMRI & @HeartInstitute Brain-Heart Interconnectome. Learn more: bit.ly/LLPhD
#apaperaday Today's pick was again premium confetti material according to Yuzu. It is from @journal_nd by McDonald et al on the updated draft guidance for dystrophinopathy therapy development for Industry. This effort included many people including me :D DOI: 10.3233/JND-230219
Join us and @MD_Canada at our next CPD-accredited webinar, chaired by Dr. Hanns Lochmüller (@LochmullerLab) 🖥️Cutting Edge Therapeutic Approaches for Duchenne Muscular Dystrophy 📅Tue Feb 6, 2024 🕝5:00pm ET 🔗Registration link: bit.ly/TxforDMD #LetsTalkNMD #Duchenne
Join us and @MD_Canada at our next CPD-accredited webinar: Cutting Edge Therapeutic Approaches for Duchenne Muscular Dystrophy, chaired by Dr. Hanns Lochmüller (@LochmullerLab) 📅Tue Feb 6, 2024 🕝5:00pm ET 🔗bit.ly/TxforDMD #LetsTalkNMD #Duchenne
#apaperaday Today's pick is a meeting report on osteoporosis management in Duchenne by Phung et al and @drjarodwong to commemorate that - weather and train and plane permitting we will meet this evening. The report is published in @journal_nd DOI: 10.3233/JND-230176
Join us and @MD_Canada at our next CPD-accredited webinar: Cutting Edge Therapeutic Approaches for Duchenne Muscular Dystrophy, chaired by Dr. Hanns Lochmüller (@LochmullerLab) 📅Tue Feb 6, 2024 🕝5:00pm ET 🔗bit.ly/TxforDMD #LetsTalkNMD #Duchenne
We are hiring! More details here👇🏻👇🏻
Bioinformatician - Single Cell Genomics in Neurodegenerative & Mitochondrial Disease: jobs.cam.ac.uk/job/44723/ Lead an exciting project to shed light on the fundamental biology of neurodegenerative diseases and #mito dysfunction. @Jellevda @HorvathLab @MRCMitoCluster @MRC_MBU
➡️Next #EURONMD webinar w/ @ERN_RND & @EANeurology 📚 "Respiratory insufficiency in Neuromuscular Diseases" delivered by Dr. Maxwell Damian (Intensive care expert, NHS, UK) 📅11 jan. 2024 16:00 CET ℹ️Registration here 👉bit.ly/3Sanp3d
🗣️Excited to share a novel genotype-phenotype identified in FGD4 gene published @journal_nd from @NIMHANS_BLR #India expanding the spectrum of Charcot Marie Tooth Disease @AANmember @cmtausa @CMTRF @CheckOrphan @RareDiseases #neurology #neurotwitter @TheACMG @Sage_Publishing
🌟 Publication alert: @Solve_RD's phenotypic similarity-based approach for solving undiagnosed #rarediseases, with 42% of diagnoses clinically validated. Read more here 👉🏽nature.com/articles/s4143… @Orphanet @anarath63 @david_lagorce @marc_hanauer @LeslieMatalonga @Holmson69 @drseb_
Today we received the news of de approval by the EC of AGAMREE (vamorolone) 📣santhera.com/assets/files/p…
Join us and @MD_Canada at our next CPD-accredited webinar: Understanding the molecular mechanisms of DM1 to develop therapeutic strategies, chaired by Dr. Élise Duchesne (@GRIMN_SLSJ) 📅Tue Jan 9, 2024 🕝5:00pm ET 🔗bit.ly/DM1therapeutics #LetsTalkNMD #DM1 #myotonicdystrophy
➡️Next #EURONMD webinar w/ @ERN_RND & @EANeurology 📚 "Cognitive symptoms in myopathies" delivered by Dr. Jens Reimann (Department of Neurology, University Hospital Bonn, Germany) 📅Jan 4th 2024 at 16:00 CET ℹ️Registration here 👉bit.ly/3uUxMyJ
Read about taking a multifaceted approach to treating your FSHD symptoms on our blog! In addition to Dr. Voermans' post, you can catch up on other pieces, like “The Fact Alliance,” “Kitchen Confidential,” and “2023 International Research Congress Summary.” bit.ly/blogFSHD
Very important article and important statement..…….funders and professional regulatory bodies should nurture clinician–scientists …. If we can get this right, this group will continue to make invaluable contributions to human knowledge and health.
Academic clinician–scientists risk becoming an endangered species. World View from @StephenORahilly @Cambridge_Uni nature.com/articles/s4159…
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