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Periodic paralysis.
Fontaine B. Fontaine B. Adv Genet. 2008;63:3-23. doi: 10.1016/S0065-2660(08)01001-8. Adv Genet. 2008. PMID: 19185183 Review.
Review of the Diagnosis and Treatment of Periodic Paralysis.
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC. Statland JM, et al. Among authors: fontaine b. Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29. Muscle Nerve. 2018. PMID: 29125635 Free PMC article. Review.
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium; Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. Heinzen EL, et al. Among authors: fontaine b. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842232 Free PMC article.
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.
Goris A, van Setten J, Diekstra F, Ripke S, Patsopoulos NA, Sawcer SJ; International Multiple Sclerosis Genetics Consortium; van Es M; Australia and New Zealand MS Genetics Consortium; Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH Jr, Shatunov A, Leigh N, Al-Chalabi A, Shaw CE, Traynor BJ, Chiò A, Restagno G, Mora G, Ophoff RA, Oksenberg JR, Van Damme P, Compston A, Robberecht W, Dubois B, van den Berg LH, De Jager PL, Veldink JH, de Bakker PI. Goris A, et al. Hum Mol Genet. 2014 Apr 1;23(7):1916-22. doi: 10.1093/hmg/ddt574. Epub 2013 Nov 13. Hum Mol Genet. 2014. PMID: 24234648 Free PMC article.
479 results