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

Year Number of Results
1975 1
2012 31
2013 274
2014 184
2015 161
2016 65
2017 21
2018 29
2019 38
2020 3
2021 9
2022 6
2023 2
2024 0

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678 results

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Page 1
Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.
Pizzamiglio C, Pitceathly RDS, Lunn MP, Brady S, De Marchi F, Galan L, Heckmann JM, Horga A, Molnar MJ, Oliveira ASB, Pinto WBVR, Primiano G, Santos E, Schoser B, Servidei S, Sgobbi Souza PV, Venugopalan V, Hanna MG, Dimachkie MM, Machado PM; Neuromuscular Diseases and COVID-19 Study Group. Pizzamiglio C, et al. Eur J Neurol. 2023 Feb;30(2):399-412. doi: 10.1111/ene.15613. Epub 2022 Nov 18. Eur J Neurol. 2023. PMID: 36303290 Free PMC article.
Comparison of strength testing modalities in dysferlinopathy.
Reash NF, James MK, Alfano LN, Mayhew AG, Jacobs M, Iammarino MA, Holsten S, Sakamoto C, Tateishi T, Yajima H, Duong T, de Wolf B, Gee R, Bharucha-Goebel DX, Bravver E, Mori-Yoshimura M, Bushby K, Rufibach LE, Straub V, Lowes LP; Jain COS Consortium. Reash NF, et al. Muscle Nerve. 2022 Aug;66(2):159-166. doi: 10.1002/mus.27570. Epub 2022 May 20. Muscle Nerve. 2022. PMID: 35506767
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
Pipis M, Cortese A, Polke JM, Poh R, Vandrovcova J, Laura M, Skorupinska M, Jacquier A, Juntas-Morales R, Latour P, Petiot P, Sole G, Fromes Y, Shah S, Blake J, Choi BO, Chung KW, Stojkovic T, Rossor AM, Reilly MM. Pipis M, et al. J Neurol Neurosurg Psychiatry. 2022 Jan;93(1):48-56. doi: 10.1136/jnnp-2021-327186. Epub 2021 Sep 13. J Neurol Neurosurg Psychiatry. 2022. PMID: 34518334 Free PMC article.
The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.
Spaulding EL, Hines TJ, Bais P, Tadenev ALD, Schneider R, Jewett D, Pattavina B, Pratt SL, Morelli KH, Stum MG, Hill DP, Gobet C, Pipis M, Reilly MM, Jennings MJ, Horvath R, Bai Y, Shy ME, Alvarez-Castelao B, Schuman EM, Bogdanik LP, Storkebaum E, Burgess RW. Spaulding EL, et al. Science. 2021 Sep 3;373(6559):1156-1161. doi: 10.1126/science.abb3414. Epub 2021 Sep 1. Science. 2021. PMID: 34516839 Free PMC article.
678 results