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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: stutterd c. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.
Stutterd C, Diakumis P, Bahlo M, Fanjul Fernandez M, Leventer RJ, Delatycki M, Amor D, Chow CW, Stephenson S, Meisler MH, Mclean C, Lockhart PJ. Stutterd C, et al. Ann Clin Transl Neurol. 2017 Nov 7;4(12):859-864. doi: 10.1002/acn3.487. eCollection 2017 Dec. Ann Clin Transl Neurol. 2017. PMID: 29296614 Free PMC article.
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.
Myers KA, Marini C, Carvill GL, McTague A, Panetta J, Stutterd C, Stanley T, Marin S, Nguyen J, Barba C, Rosati A, Scott RH, Mefford HC, Guerrini R, Scheffer IE. Myers KA, et al. Among authors: stutterd c. Neurol Genet. 2021 Mar 18;7(2):e579. doi: 10.1212/NXG.0000000000000579. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33912662 Free PMC article.
36 results