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Year Number of Results
2012 2
2014 2
2015 2
2016 1
2018 3
2019 6
2020 12
2021 7
2022 9
2023 5
2024 2

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41 results

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Page 1
Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease.
Bertini A, Manganelli F, Fabrizi GM, Schenone A, Santoro L, Cavallaro T, Tagliapietra M, Grandis M, Previtali SC, Falzone YM, Allegri I, Padua L, Pazzaglia C, Tramacere I, Cavalca E, Saveri P, Quattrone A, Valentino P, Tozza S, Gentile L, Russo M, Mazzeo A, Vita G, Prada V, Zuccarino R, Ferraro F, Pisciotta C, Pareyson D; Italian CMT Network. Bertini A, et al. Among authors: prada v. J Neurol Neurosurg Psychiatry. 2024 Apr 12;95(5):434-441. doi: 10.1136/jnnp-2023-332422. J Neurol Neurosurg Psychiatry. 2024. PMID: 37918904 Free PMC article.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
266th ENMC International Workshop: Remote delivery of clinical care and validation of remote clinical outcome assessments in neuromuscular disorders: A response to COVID-19 and proactive planning for the future. Hoofddorp, The Netherlands, 1-3 April 2022.
Alfano LN, James MK, Ramdharry GM, Lowes LP; 266th ENMC Workshop Study Group. Alfano LN, et al. Neuromuscul Disord. 2023 Apr;33(4):339-348. doi: 10.1016/j.nmd.2023.02.011. Epub 2023 Mar 4. Neuromuscul Disord. 2023. PMID: 36965197 No abstract available.
Modified Erasmus GBS Respiratory Insufficiency Score: a simplified clinical tool to predict the risk of mechanical ventilation in Guillain-Barré syndrome.
Luijten LWG, Doets AY, Arends S, Dimachkie MM, Gorson KC, Islam B, Kolb NA, Kusunoki S, Papri N, Waheed W, Walgaard C, Yamagishi Y, Lingsma H, Jacobs BC; IGOS Consortium. Luijten LWG, et al. J Neurol Neurosurg Psychiatry. 2023 Apr;94(4):300-308. doi: 10.1136/jnnp-2022-329937. Epub 2022 Nov 25. J Neurol Neurosurg Psychiatry. 2023. PMID: 36428088
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
Veneri FA, Prada V, Mastrangelo R, Ferri C, Nobbio L, Passalacqua M, Milanesi M, Bianchi F, Del Carro U, Vallat JM, Duong P, Svaren J, Schenone A, Grandis M, D'Antonio M. Veneri FA, et al. Among authors: prada v. Hum Mol Genet. 2022 Dec 16;31(24):4255-4274. doi: 10.1093/hmg/ddac170. Hum Mol Genet. 2022. PMID: 35908287 Free PMC article.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Fiorillo C, Capodivento G, Geroldi A, Tozza S, Moroni I, Mohassel P, Cataldi M, Campana C, Morando S, Panicucci C, Pedemonte M, Brolatti N, Siliquini S, Traverso M, Baratto S, Debellis D, Magri S, Prada V, Bellone E, Salpietro V, Donkervoort S, Gable K, Gupta SD, Dunn TM, Bönnemann CG, Taroni F, Bruno C, Schenone A, Mandich P, Nobbio L, Nolano M. Fiorillo C, et al. Among authors: prada v. Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12842. doi: 10.1111/nan.12842. Epub 2022 Aug 10. Neuropathol Appl Neurobiol. 2022. PMID: 35904184 Free PMC article.
41 results