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Page 1
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations.
Sun J, Luo S, Suetterlin KJ, Song J, Huang J, Zhu W, Xi J, Zhou L, Lu J, Lu J, Zhao C, Hanna MG, Männikkö R, Matthews E, Qiao K. Sun J, et al. Neuromuscul Disord. 2021 Sep;31(9):829-838. doi: 10.1016/j.nmd.2021.03.014. Epub 2021 Apr 15. Neuromuscul Disord. 2021. PMID: 33965302
Andersen-Tawil Syndrome Presenting with Complete Heart Block.
Suetterlin K, Männikkö R, Flossmann E, Sud R, Fialho D, Vivekanandam V, James N, Gossios TD, Hanna MG, Savvatis K, Matthews E. Suetterlin K, et al. J Neuromuscul Dis. 2021;8(1):151-154. doi: 10.3233/JND-200572. J Neuromuscul Dis. 2021. PMID: 33074188
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Matthews E, Neuwirth C, Jaffer F, Scalco RS, Fialho D, Parton M, Raja Rayan D, Suetterlin K, Sud R, Spiegel R, Mein R, Houlden H, Schaefer A, Healy E, Palace J, Quinlivan R, Treves S, Holton JL, Jungbluth H, Hanna MG. Matthews E, et al. Neurology. 2018 Jan 30;90(5):e412-e418. doi: 10.1212/WNL.0000000000004894. Epub 2018 Jan 3. Neurology. 2018. PMID: 29298851 Free PMC article.
The long exercise test as a functional marker of periodic paralysis.
Ribeiro A, Suetterlin KJ, Skorupinska I, Tan SV, Morrow JM, Matthews E, Hanna MG, Fialho D. Ribeiro A, et al. Muscle Nerve. 2022 May;65(5):581-585. doi: 10.1002/mus.27465. Epub 2021 Dec 6. Muscle Nerve. 2022. PMID: 34817893 Free PMC article.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Péréon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F, Mathieu J, Franques J, Suetterlin K, Hanna MG, Guyant-Marechal L, Snoeck MM, Roberts ME, Kuntzer T, Fernandez-Torron R, Martínez-Arroyo A, Seeger J, Kusters B, Treves S, van Engelen BG, Eymard B, Voermans NC, Sternberg D. Molenaar JP, et al. Brain. 2020 Feb 1;143(2):452-466. doi: 10.1093/brain/awz410. Brain. 2020. PMID: 32040565 Free PMC article.
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Zaharieva IT, et al. Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22. Brain. 2016. PMID: 26700687 Free PMC article.
14 results