Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features https://t.co/o70isEBZAi #medRxiv

Let us connect neurons to muscles by studying spectrinopathies! Dive into the details here 👇

🧬Our latest research is now online on @medrxivpreprint!🧬 We show that heterozygous variants in SPTAN1 cause a novel type of distal myopathy. While α-2-spectrin is well-known for its role in the axonal membrane periodic system, its function in muscle fibers is less explored🤔

🎉 Exciting News / book chapter Alert! 📚🧠 My chapter on Hereditary Motor Neuropathies (HMN) has been officially published in the Encyclopedia of the Neurological sciences, Third Edition! https://t.co/nUwhMuZr8Y

'Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias' Review article by Liedewei Van de Vondel @LiedeweiVdV, Jonathan De Winter @jonathanDW5, Vincent Timmerman & Jonathan Baets https://t.co/BDoL43rF9J

Proud to announce our new review is out in @TrendsNeuro! 🥳Jonathan De Winter & I review shared pathomechanisms between IPN, HSP & SCA - and argue that moving forward, overarching analyses should be prioritized. #raredisease #genetics

Proud to share our latest contribution in Trends in Neurosciences! "Enhanced focus on pathomechanisms and uniting cohorts of patients with different neurogenetic disorders could increase effectiveness of diagnosis, scientific discovery, and therapy design" https://t.co/JaHrwEiDmP

Wow, what a week!🌪️ Defended my PhD last week, and now, after presenting at the PNS, I'm thrilled to have received the P.K. Thomas prize!🏆 Honored and extremely happy!🎉 #PNS2023

Proud to be able to learn from one of the best! 🙌🏼 well-deserved award for my co-promotor Prof. Dr. Vincent Timmerman and his life-long work in CMT.

@DermautLab @uzgent @CZZ_PrOZA The award for the best ⚡️ flash talk at the @Solve_RD Final Meeting 2023 goes to Jonathan De Winter @jonathanDW5 from @UAntwerpen! Congratulations! 👏🏽🎉🍾🎆

Happy and proud to have received the Solve-RD best Flash Talk Award in Prague! Could not have achieved this without the invaluable contribution of the many SPTAN1 collaborators and dear colleague Liedewei Van de Vondel. #solveRD #FlashTalk #AwardWinningTeam #LiedeweiVdV

➡️ Networking over lunch in sunny Porto☀️ 6th #EURONMD ANNUAL MEETING 🇵🇹

NEW ONLINE: Timmerman, Adriaenssens (@EliasAdriaensse) and team provide evidence suggesting that cytosolic small heat shock proteins localize to the mitochondrial intermembrane space, where they operate as molecular chaperones. #ScienceTwitter https://t.co/NPs0pe2O9A

Happy to share our newest publication in Neuromuscular Disorders: "Distinct features in adult polyglucosan body disease: a case series." ==> Clinical and radiological pattern recognition at its finest 👌 Many thanks to the different co-authors! https://t.co/w6AOMn84tU

Happy, proud and excited to start my week with good news: my first PhD paper is now published! 🥳 We show that five novel #SPTAN1 variants can be a cause of #hsp and #ataxia:

Clear presentations at Jaarlijks Neuromusculair symposium contrasts the current foggy weather #nmz2022

Looking forward to attend 'Neuromusculair jaarsymposium 2022' #nmz2022

New publication by our Solve-RD partners from @UAntwerpen & @jwmdrc @UniofNewcastle: De Ridder et al. "High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients". @euro_nmd @VolkerWStraub https://t.co/PccP7jhul9

Check our newest publication in which we reply to Schob et al. by reporting an additional family with an autosomal dominant pure Hereditary Spastic Paraplegia caused by a recurrent missense variant in KPNA3. First fruits of our teamwork @LiedeweiVdV. https://t.co/OtYqgicFLI