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Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.
Ward KS, Ptak CP, Pashkova N, Grider T, Peterson TA, Pareyson D, Pisciotta C, Saveri P, Moroni I, Laura M, Burns J, Menezes MP, Cornett K, Finkel R, Mukherjee-Clavin B, Sumner CJ, Greene M, Abdul Hamid O, Herrmann D, Sadjadi R, Walk D, Züchner S, Reilly MM, Scherer SS; Inherited Neuropathy Consortium; Piper RC, Shy ME. Ward KS, et al. Brain. 2025 Jun 9:awaf219. doi: 10.1093/brain/awaf219. Online ahead of print. Brain. 2025. PMID: 40488457
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos GP, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network; McCray BA. Kosmanopoulos GP, et al. Brain. 2025 Jan 7;148(1):238-251. doi: 10.1093/brain/awae201. Brain. 2025. PMID: 38917025 Free PMC article.
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
Bertini A, Gentile L, Cavallaro T, Tozza S, Saveri P, Russo M, Massucco S, Falzone YM, Bellone E, Taioli F, Geroldi A, Occhipinti G, Ferrarini M, Cavalca E, Crivellari L, Mandich P, Balistreri F, Magri S, Taroni F, Previtali SC, Schenone A, Grandis M, Manganelli F, Fabrizi GM, Mazzeo A, Pareyson D, Pisciotta C. Bertini A, et al. Among authors: crivellari l. J Neurol Neurosurg Psychiatry. 2024 Dec 16;96(1):47-53. doi: 10.1136/jnnp-2024-333842. J Neurol Neurosurg Psychiatry. 2024. PMID: 38839277 Free PMC article.