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Page 1
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: docker m. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
The phenotypic spectrum of SCN8A encephalopathy.
Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; EuroEPINOMICS RES Consortium CRP. Larsen J, et al. Among authors: docker m. Neurology. 2015 Feb 3;84(5):480-9. doi: 10.1212/WNL.0000000000001211. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568300 Free PMC article.
Idiopathic hypothalamic dysfunction: a paraneoplastic syndrome?
Nunn K, Ouvrier R, Sprague T, Arbuckle S, Docker M. Nunn K, et al. Among authors: docker m. J Child Neurol. 1997 Jun;12(4):276-81. doi: 10.1177/088307389701200412. J Child Neurol. 1997. PMID: 9203071 Review. No abstract available.
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.
Witzel MGW, Gebhard C, Wenzel S, Kleier S, Eichhorn B, Lorenz P, von der Heyden L, Kuhn M, Luedeke M, Döcker M, Jüngling J, Schulte B, Hörtnagel K, Glaubitz R, Knippenberger S, Teubert A, Abicht A, Neuhann TM. Witzel MGW, et al. Among authors: docker m. Front Neurol. 2023 Dec 6;14:1276238. doi: 10.3389/fneur.2023.1276238. eCollection 2023. Front Neurol. 2023. PMID: 38125836 Free PMC article.
Differences in the transcriptome response in the gills of sea lamprey acutely exposed to 3-trifluoromethyl-4-nitrophenol (TFM), niclosamide or a TFM:niclosamide mixture.
Lawrence MJ, Grayson P, Jeffrey JD, Docker MF, Garroway CJ, Wilson JM, Manzon RG, Wilkie MP, Jeffries KM. Lawrence MJ, et al. Among authors: docker mf. Comp Biochem Physiol Part D Genomics Proteomics. 2023 Dec;48:101122. doi: 10.1016/j.cbd.2023.101122. Epub 2023 Aug 17. Comp Biochem Physiol Part D Genomics Proteomics. 2023. PMID: 37659214
Transcriptomic impacts and potential routes of detoxification in a lampricide-tolerant teleost exposed to TFM and niclosamide.
Lawrence MJ, Grayson P, Jeffrey JD, Docker MF, Garroway CJ, Wilson JM, Manzon RG, Wilkie MP, Jeffries KM. Lawrence MJ, et al. Among authors: docker mf. Comp Biochem Physiol Part D Genomics Proteomics. 2023 Jun;46:101074. doi: 10.1016/j.cbd.2023.101074. Epub 2023 Mar 28. Comp Biochem Physiol Part D Genomics Proteomics. 2023. PMID: 37028257
57 results