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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 2
2010 2
2011 9
2012 20
2013 14
2014 18
2015 28
2016 28
2017 30
2018 27
2019 27
2020 23
2021 19
2022 9
2023 15
2024 2

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238 results

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Page 1
Testing SIPA1L2 as a modifier of CMT1A using mouse models.
Murray GC, Hines TJ, Tadenev ALD, Xu I, Züchner S, Burgess RW. Murray GC, et al. J Neuropathol Exp Neurol. 2024 Apr 19;83(5):318-330. doi: 10.1093/jnen/nlae020. J Neuropathol Exp Neurol. 2024. PMID: 38472136
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.
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn MF, Nyvltova E, Danzi MC, Garrett M, Smith SE, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, Gomes MV, Santos DF, Kumar S, Lombard DB, Saporta M, Hekimi S, Barrientos A, Weihl C, Shy ME, Marques W, Zuchner S. Rebelo AP, et al. Brain. 2023 Oct 3;146(10):4191-4199. doi: 10.1093/brain/awad158. Brain. 2023. PMID: 37170631
Advances in diagnosis and management of distal sensory polyneuropathies.
Silsby M, Feldman EL, Dortch RD, Roth A, Haroutounian S, Rajabally YA, Vucic S, Shy ME, Oaklander AL, Simon NG. Silsby M, et al. J Neurol Neurosurg Psychiatry. 2023 Dec;94(12):1025-1039. doi: 10.1136/jnnp-2021-328489. Epub 2023 Mar 30. J Neurol Neurosurg Psychiatry. 2023. PMID: 36997315 Review.
238 results