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A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.
Mul K, Schouten MI, van der Looij E, Dooijes D, Hennekam FAM, Notermans NC, Praamstra P, van Gaalen J, Kamsteeg EJ, Verbeek NE, van de Warrenburg BPC. Mul K, et al. Parkinsonism Relat Disord. 2020 Nov;80:98-101. doi: 10.1016/j.parkreldis.2020.09.016. Epub 2020 Sep 12. Parkinsonism Relat Disord. 2020. PMID: 32979786 Free article.
Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).
Goselink RJ, Schreuder TH, Mul K, Voermans NC, Pelsma M, de Groot IJ, van Alfen N, Franck B, Theelen T, Lemmers RJ, Mah JK, van der Maarel SM, van Engelen BG, Erasmus CE. Goselink RJ, et al. Among authors: mul k. BMC Neurol. 2016 Aug 17;16:138. doi: 10.1186/s12883-016-0664-6. BMC Neurol. 2016. PMID: 27530735 Free PMC article. Clinical Trial.
Adding quantitative muscle MRI to the FSHD clinical trial toolbox.
Mul K, Vincenten SCC, Voermans NC, Lemmers RJLF, van der Vliet PJ, van der Maarel SM, Padberg GW, Horlings CGC, van Engelen BGM. Mul K, et al. Neurology. 2017 Nov 14;89(20):2057-2065. doi: 10.1212/WNL.0000000000004647. Epub 2017 Oct 13. Neurology. 2017. PMID: 29030457 Free PMC article.
56 results