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

Year Number of Results
1992 2
1994 2
1995 2
1996 1
1997 1
1998 1
2001 2
2002 2
2003 5
2004 2
2005 3
2006 1
2007 2
2008 1
2009 4
2010 6
2011 3
2012 5
2013 4
2014 2
2015 4
2016 8
2017 4
2018 4
2019 4
2020 5
2021 7
2022 13
2023 11
2024 13

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109 results

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Page 1
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: kennerson m. Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2. Nat Commun. 2024. PMID: 39068203 Free PMC article.
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
Beijer D, Dohrn MF, Rebelo A, Danzi MC, Grosz BR, Ellis M, Kumar KR, Vucic S, Vais H, Weissenrieder JS, Lunko O, Paudel U, Simpson LC, Raposo J, Saporta M, Arcia Y, Xu I, Feely S, Record CJ, Blake J, Reilly MM, Scherer S, Kennerson M, Lee YC, Foskett JK, Shy M, Zuchner S. Beijer D, et al. Among authors: kennerson m. Brain. 2024 Jun 28:awae206. doi: 10.1093/brain/awae206. Online ahead of print. Brain. 2024. PMID: 38938188
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
Grosz BR, Parmar JM, Ellis M, Bryen S, Simons C, Reis ALM, Stevanovski I, Deveson IW, Nicholson G, Laing N, Wallis M, Ravenscroft G, Kumar KR, Vucic S, Kennerson ML. Grosz BR, et al. Among authors: kennerson ml. J Peripher Nerv Syst. 2024 Jun;29(2):262-274. doi: 10.1111/jns.12637. Epub 2024 Jun 11. J Peripher Nerv Syst. 2024. PMID: 38860315
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.
Van Lent J, Prior R, Pérez Siles G, Cutrupi AN, Kennerson ML, Vangansewinkel T, Wolfs E, Mukherjee-Clavin B, Nevin Z, Judge L, Conklin B, Tyynismaa H, Clark AJ, Bennett DL, Van Den Bosch L, Saporta M, Timmerman V. Van Lent J, et al. Among authors: kennerson ml. Exp Mol Med. 2024 Jun;56(6):1348-1364. doi: 10.1038/s12276-024-01250-x. Epub 2024 Jun 3. Exp Mol Med. 2024. PMID: 38825644 Free PMC article. Review.
Genome sequencing reanalysis increases the diagnostic yield in dystonia.
Fellner A, Wali GM, Mahant N, Grosz BR, Ellis M, Narayanan RK, Ng K, Davis RL, Tchan MC, Kotschet K, Yeow D, Rudaks LI, Siow SF, Wali G, Yiannikas C, Hobbs M, Copty J, Geaghan M, Darveniza P, Liang C, Williams LJ, Chang FCF, Morales-Briceño H, Tisch S, Hayes M, Whyte S, Kummerfeld S, Kennerson ML, Cowley MJ, Fung VSC, Sue CM, Kumar KR. Fellner A, et al. Among authors: kennerson ml. Parkinsonism Relat Disord. 2024 Jul;124:107010. doi: 10.1016/j.parkreldis.2024.107010. Epub 2024 May 14. Parkinsonism Relat Disord. 2024. PMID: 38772265 Free article.
A missense mutation in human INSC causes peripheral neuropathy.
Yeh JY, Chao HC, Hong CL, Hung YC, Tzou FY, Hsiao CT, Li JL, Chen WJ, Chou CT, Tsai YS, Liao YC, Lin YC, Lin S, Huang SY, Kennerson M, Lee YC, Chan CC. Yeh JY, et al. Among authors: kennerson m. EMBO Mol Med. 2024 May;16(5):1091-1114. doi: 10.1038/s44321-024-00062-w. Epub 2024 Apr 8. EMBO Mol Med. 2024. PMID: 38589651 Free PMC article.
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.
El-Wahsh S, Fellner A, Hobbs M, Copty J, Deveson I, Stevanovski I, Stoll M, Zhu D, Narayanan RK, Grosz B, Worgan L, Cheong PL, Yeow D, Rudaks L, Hasan MM, Hayes VM, Kennerson M, Kumar KR, Hayes M. El-Wahsh S, et al. Among authors: kennerson m. Mov Disord Clin Pract. 2024 May;11(5):582-585. doi: 10.1002/mdc3.14023. Epub 2024 Mar 18. Mov Disord Clin Pract. 2024. PMID: 38497520 Free PMC article. No abstract available.
109 results