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Journal of Neurology, Neurosurgery, and Psychiatry|June 9, 2021
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseasesChristopher Grunseich, Nathan Sarkar, Joyce Lu, et al.American Journal of Human Genetics|September 6, 2014
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathyDavid N Herrmann, Rita Horvath, Janet E Sowden, et al.Nature Communications|May 31, 2020
TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2Brian M Woolums, Brett A McCray, Hyun Sung, et al.Annals of Clinical and Translational Neurology|April 7, 2023
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathyBhaskar Roy, Allison Peck, Teresinha Evangelista, et al.Arthritis & Rheumatology (Hoboken, N.J.)|March 13, 2019
Myositis Autoantigen Expression Correlates With Muscle Regeneration but Not Autoantibody SpecificityIago Pinal-Fernandez, David R Amici, Cassie A Parks, et al.Annals of the Rheumatic Diseases|May 6, 2026
Myeloid dendritic cell subsets characterise muscle in patients with inclusion body myositis and correlate with the IFN-γ pathway and effector T cell markersRaphael A Kirou, Iago Pinal-Fernandez, Maria Casal-Dominguez, et al.Nature|November 23, 2018
TDP-43 and RNA form amyloid-like myo-granules in regenerating muscleThomas O Vogler, Joshua R Wheeler, Eric D Nguyen, et al.Cells|September 8, 2023
Identification of Unique microRNA Profiles in Different Types of Idiopathic Inflammatory MyopathySandra Muñoz-Braceras, Iago Pinal-Fernandez, Maria Casal-Dominguez, et al.Nature Neuroscience|November 16, 2021
Multi-omic analysis of selectively vulnerable motor neuron subtypes implicates altered lipid metabolism in ALSHojae Lee, Jae Jin Lee, Na Young Park, et al.Arthritis & Rheumatology (Hoboken, N.J.)|July 27, 2021
Anti-Cortactin Autoantibodies Are Associated With Key Clinical Features in Adult Myositis But Are Rarely Present in Juvenile MyositisIago Pinal-Fernandez, Katherine Pak, Albert Gil-Vila, et al.Pageof 12