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Annals of Neurology|August 11, 2017
Natural history of Charcot-Marie-Tooth disease during childhoodKayla M D Cornett, Manoj P Menezes, Rosemary R Shy, et al.Brain : a Journal of Neurology|April 23, 2021
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvementAdriana P Rebelo, Andrea Cortese, Amit Abraham, et al.Muscle & Nerve|June 21, 2017
Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth diseaseMatilde Laurá, Dishan Singh, Gita Ramdharry, et al.Microbiome|July 13, 2017
Control of lupus nephritis by changes of gut microbiotaQinghui Mu, Husen Zhang, Xiaofeng Liao, et al.Brain : a Journal of Neurology|August 20, 2025
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathyCamila Armirola-Ricaurte, Laura Morant, Isabelle Adant, et al.Journal of Neuromuscular Diseases|May 5, 2025
Kennedy's disease from India: An Indian Cohort with multisystemic manifestationsSaranya B Gomathy, William L Macken, Nimita Rani, et al.Nature Communications|November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencingWilliam L Macken, Micol Falabella, Caroline McKittrick, et al.Brain Communications|November 15, 2024
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income countryRodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Christopher J Record, et al.Critical Care Explorations|February 2, 2024
Providing Remote Aid During a Humanitarian CrisisLewis J Kaplan, Scott Levin, Jay Yelon, et al.Nature|October 28, 2021
Glycogen metabolism links glucose homeostasis to thermogenesis in adipocytesOmer Keinan, Joseph M Valentine, Haopeng Xiao, et al.Pageof 163