Gerald Pfeffer @pfefferlab
Physician and researcher of genetic neuromuscular diseases at the University of Calgary Calgary, Canada Joined April 2021-
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Best practice recommendations for spinal bulbar muscular atrophy (SBMA or Kennedy disease), published today in CMAJ. Best practice recommendations for the clinical care of spinal bulbar muscular atrophy | CMAJ
The Western Canadian Neuromuscular Conference will return to Calgary from September 25-27, 2026. Save the date! wcnmc.ca
The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation. The image shows reduction of mitochondrial-ER contacts in transdifferentiated myoblasts from the patient. life-science-alliance.org/content/8/6/e2…
Exciting news! CAPTURE (Comprehensive Analysis Platform To Understand, Remedy, and Eliminate) ALS has hit a milestone of 100 people living with ALS or a related disease enrolled in the platform – reaching the original target number. This is significant to the #ALS research…
For the first time, the WCNMC hosted a research symposium, which took place on Sunday September 29, afternoon. 🌟Best platform presentation: Dr Tefani Perera 🌟Best research poster: Dr Lola Lessard Please join us in congratulating the winners!👏 #WCNMC
Today is the day!! We wish to extend our warmest welcome to you as we kick off the Western Canadian Neuromuscular Conference 2024 today, September 27, at Hotel Arts! We are thrilled to have you join us for what promises to be an inspiring and informative event. See you soon!
Another set of amazing speakers that will be speaking at the Western Canadian Neuromuscular Conference that is set to begin this Friday! For more information on the various speakers, check out the conference agenda - wcnmc.ca! #Neurology #Neuromuscular
Meet Dr. Chris White, Dr. Cam-Tu Nguyen and Dr. Colleen O'Connell, featured speakers at the #WCNMC2024! Don't miss out, only a handful of seats left! Discover more about their session and explore the full conference schedule through the wcnmc.ca!
With one week to go, excitement is building for the Western Canadian Neuromuscular Conference 2024! The conference promises insightful presentations, expert-led discussions, and networking opportunities Don't miss your chance to be part of this event! wcnmc.ca
The countdown to the upcoming Western Canadian Neuromuscular Conference has begun! To ensure your spot, don’t forget to register today! Register online by visiting wcnmc.ca We look forward to seeing you there! #WCNMC2024 #Neuromuscular #YYC
Last call for Abstracts! Time is running out! The abstract submission for the 5th Western Canadian Neuromuscular Conference window is closing FAST. You have until September 13, 2024, @ midnight! This is YOUR moment to make a mark on the Neuromuscular Community! Submit Now!
The glymphatic system is an emerging therapeutic target for proteinopathies. Sharkey et al. show that individuals with ALS have reduced glymphatic function compared to age-matched controls and people with primary lateral sclerosis. tinyurl.com/ymm52vm5
Haven’t booked your accommodations for the upcoming #WCNMC2024, the deadline for group rates is Friday, September 6! The 2024 Western Canadian Neuromuscular Conference will be held at #HotelArts, located in the Beltline district, downtown Calgary. Book now wcnmc.ca
Plan to attend the Western Canadian Neuromuscular Conference September 27-29 2024 in Calgary Registration is open Abstract submission is open until September 6 See wcnmc.ca for programme and details!
Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy medrxiv.org/cgi/content/sh… #medRxiv
New online! Brain–body mechanisms contribute to sexual dimorphism in amyotrophic lateral sclerosis go.nature.com/4csiiD8
Check out our new preprint characterizing the Q367H MFN2 variant, which we linked to mtDNA-mediated inflammation: medrxiv.org/content/10.110… Congrats to @m_za_man, @Tatsatu, @rsabouny, @pfefferlab and other authors not on Twitter.
Review on the diverse molecular functions of valosin containing protein (VCP). Protein quality control, ERAD, autophagy, mitophagy, lysophagy, DNA maintenance and replication... Is there anything it can't do? mdpi.com/1422-0067/25/1… @IJMS_MDPI @MitoMORPH
Unexpectedly high incident cases of spinal bulbar muscular atrophy (Kennedy disease) in western Canada doi.org/10.1093/brain/… @HotchkissBrain @DCNSNeuro @pewaseskwan @usask
Mosaic MTOR variant identified by sequencing of neuronal cells adherent to EEG electrodes from a patient with refractory epilepsy and focal cortical dysplasia. @HotchkissBrain @DCNSNeuro medrxiv.org/content/10.110…

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