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Frontiers in Neurology|September 15, 2023
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegiaAmokelani C Mahungu, Elizabeth Steyn, Niki Floudiotis, et al.Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2023
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentationLuke F O'Donnell, Menelaos Pipis, John S Thornton, et al.Annals of Neurology|October 24, 2024
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the PhenotypeChristopher J Record, Antoinette O'Connor, Nienke E Verbeek, 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.Journal of Neurology, Neurosurgery, and Psychiatry|September 10, 2025
Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathiesRodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Manoella Guerra de Albuquerque Bueno, et al.Nature Reviews. Disease Primers|June 17, 2022
Genetic pain loss disordersAnnette Lischka, Petra Lassuthova, Arman Çakar, et al.Neurology. Genetics|July 20, 2023
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular AtrophyGorka Fernández-Eulate, Julian Theuriet, Christopher J Record, et al.Brain : a Journal of Neurology|June 28, 2024
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severityDanique Beijer, Maike F Dohrn, Adriana Rebelo, et al.Brain : a Journal of Neurology|June 7, 2023
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variantsChristopher J Record, Mariola Skorupinska, Matilde Laura, et al.Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variantsChristopher J Record, Tiffany Grider, Adriana P Rebelo, et al.Pageof 3