Weihl Lab

There has never been a more exciting time to pursue a career in Neuromuscular Medicine! Our Neuromuscle fellowship offers trainees comprehensive didactics, a broad patient mix and foundational training in electrodiagnostics and nerve/muscle pathology. youtube.com/watch?v=H1Uab-…

Very nice excited this paper is out. It reveals the power of human genetics to understand molecular mechanism. Thanks to our collaborators. @WashUNeurology @TNRLab @CureVCPDisease

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP: The American Journal of Human Genetics cell.com/ajhg/fulltext/…

Congratulations to our three #WashUMed faculty members elected to the National Academy of Medicine: Michael S. Avidan, MBBCh, Sarah K. England, PhD, and Timothy Miller, MD, PhD. Learn more about their groundbreaking work here: medicine.wustl.edu/news/avidan-en…

C3 awarded a Travel Grant to Dr. Stephanie Hunn, Washington University School of Medicine. Dr. Hunn, a member of @LabWeihl, presented early longitudinal data from the GRASP-LGMD natural history study at #WMS2023 in Charleston, SC. Read more here: curecalpain3.org/dr-stephanie-h…

Diagnosis of rare, genetic muscle disease improved by new approach #WashUMed researchers have developed an approach that could help doctors distinguish between the many subtypes of limb girdle muscular dystrophy, a rare, genetic muscle disease. @LabWeihl @WashUNeurosurg

@MaliRamanLab @RichwithanA Very cool. I need one. Too.

Best gift ever! Thank you ⁦@RichwithanA⁩ for the 3D printed p97 hexamer in the active conformation

New pre-print from the lab! We performed quantitative proteomics in iPSC-derived motor neurons with p97 R155H mutation that causes ALS and MSP-1 and found lysophagy defects. biorxiv.org/content/10.110… Congrats to @jay_clicks Thanks @jmaglab @LabWeihl @GygiLab

Morpholino antisense oligos show potential in selectively reducing DNAJB6b isoform levels, correcting disease-related protein abnormalities according to Findlay et al: Promising progress in treating Limb Girdle Muscular Dystrophy D1 (LGMD D1). cell.com/molecular-ther…

A patient from Charleston, SC gave me a list of his favorite restaurants when he learned that I will be attending the #WMS2023 in Charleston! I thought I should share this with @WorldMuscleSoc members.

@YSPTSPS @DavidWSanders2 @JasonSynaptic I always teach this paper.

@DavidWSanders2 @JasonSynaptic pubmed.ncbi.nlm.nih.gov/24857020/ indeed a very great paper but also where are all your suggestions ?

Curious...I am teaching an intro to neurodegeneration lecture for 1st year students. What would you include in this lecture? Broad strokes/concepts...

Timothy Miller, MD, PhD, discussed tofersen’s impact on SOD1 protein and neurofilament light, as well as the need to initiate treatment as early as possible after #ALS diagnosis. @AmylyxPharma @WashUNeurology @NEALSConsortium #NEALS2022 Watch here: ow.ly/7ZHw50Lze7G

Unsolved cases of fetuses or newborns with bone, heart and muscle anomalies? Check Titin #titin #medicalgenetics #research #neonatology #pediatrics @UddLab medrxiv.org/content/10.110…

GRASP LGMD meeting underway!

So proud of these amazing young physician scientists investigating how racism manifests in the clinic (Drs. Mysti Harrison and Jackie Bhattarai) and digging into more rare but significant neuroimmune disorder (@MariaIReyesMan1). #teamwork #ECTRIMS2022 @IntNatlWiMS

I have a very important ceremony coming up. This will be my first time out since diagnosed with MS. Walking sticks are now part of my new normal. Thank you @neowalksticks for these beauties. Stay tuned to see which ones make the cut for a week of stuff.

📢Conrad Weihl @LabWeihl @WUSTLmed, Ana Töpf & @VolkerWStraub @jwmdrc et al. just published their collaborative work in Acta Neuropathologica: Loss of function variants in DNAJB4 cause a #myopathy with early respiratory failure. 👉🏾 pubmed.ncbi.nlm.nih.gov/36264506/ @euro_nmd

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure pubmed.ncbi.nlm.nih.gov/36264506/ Just out. great collaboration. @doctrue2 @BhadraAnkan @Gianina_Natoli @VolkerWStraub. Continually amazed how human genetics informs mechanism.

Young Myologist of the Year ⁦@WorldMuscleSoc⁩ #WMS2022 ⁦@SGorokhova⁩ ⁦@Myologie_MMG⁩ well deserved award congratulation !👍😄