2019
Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study
Murai H, Uzawa A, Suzuki Y, Imai T, Shiraishi H, Suzuki H, Okumura M, O’Brien F, Wang J, Fujita K, Utsugisawa K, Group I, Mazia C, Wilken M, Barroso F, Saba J, Rugiero M, Bettini M, Chaves M, Vidal G, Garcia A, De Bleecker J, Van den Abeele G, de Koning K, De Mey K, Mercelis R, Mahieu D, Wagemaekers L, Van Damme P, Depreitere A, Schotte C, Smetcoren C, Stevens O, Van Daele S, Vandenbussche N, Vanhee A, Verjans S, Vynckier J, D'Hondt A, Tilkin P, de Siqueira Carvalho A, Brockhausen I, Feder D, Ambrosio D, César P, Melo A, Ribeiro R, Rocha R, Rosa B, Veiga T, da Silva L, Engel M, Geraldo J, da Penha Ananias Morita M, Coelho E, Paiva G, Pozo M, Prando N, Torres D, Butinhao C, Duran G, da Silva T, Gonçalves L, Pazetto L, Fialho T, Volpe L, Duca L, Oliveira A, Andrade A, Annes M, Silva L, Lino V, Pinto W, Assis N, Carrara F, Miranda C, Souza I, Fernandes P, Siddiqi Z, Phan C, Narayan J, Blackmore D, Mallon A, Roderus R, Watt E, Junkerova J, Kurkova B, Reguliova K, Zapletalova O, Pitha J, Novakova I, Tyblova M, Jurajdova I, Wolfova M, Andersen H, Harbo T, Vinge L, Krogh S, Mogensen A, Vissing J, Højgaard J, Witting N, Autzen A, Pedersen J, Eralinna J, Laaksonen M, Oksaranta O, Harrison T, Eriksson J, Rozsa C, Horvath M, Lovas G, Matolcsi J, Szabo G, Jakab G, Szabadosne B, Antonini G, Di Pasquale A, Garibaldi M, Morino S, Troili F, Fionda L, Filla A, Costabile T, Marano E, Saccà F, Fasanaro A, Marsili A, Puorro G, Mantegazza R, Antozzi C, Bonanno S, Camera G, Locatelli A, Maggi L, Pasanisi M, Campanella A, Evoli A, Alboini P, D'Amato V, Iorio R, Kanai T, Kawaguchi N, Mori M, Kaneko Y, Kanzaki A, Kobayashi E, Masaki K, Matsuse D, Matsushita T, Uehara T, Shimpo M, Jingu M, Kikutake K, Nakamura Y, Sano Y, Nagane Y, Kamegamori I, Tsuda T, Fujii Y, Futono K, Ozawa Y, Mizugami A, Saito Y, Morikawa M, Samukawa M, Kamakura S, Miyawaki E, Mitazaki T, Motomura M, Mukaino A, Yoshimura S, Asada S, Yoshida S, Amamoto S, Kobashikawa T, Koga M, Maeda Y, Takada K, Takada M, Tsurumaru M, Yamashita Y, Akiyama T, Narikawa K, Tano O, Tsukita K, Kurihara R, Meguro F, Fukuda Y, Sato M, Funaka S, Kawamura T, Makamori M, Takahashi M, Taichi N, Hasuike T, Higuchi E, Kobayashi H, Osakada K, Tsuda E, Shimohama S, Hayashi T, Hisahara S, Kawamata J, Murahara T, Saitoh M, Suzuki S, Yamamoto D, Ishiyama Y, Ishiyama N, Noshiro M, Takeyama R, Uwasa K, Yasuda I, van der Kooi A, de Visser M, Gibson T, Casasnovas C, Aguilo M, Homedes-Pedret C, Palacios N, Porras L, Santamaria V, Lazaro A, Tejedor E, Salcedo P, Fernandez-Fournier M, Ruiz P, de Rivera F, Sastre M, Gamez J, Sune P, Salvado M, Gili G, Mazuela G, Illa I, Vicente E, Diaz-Manera J, Gutierrez L, Garcia R, Vidal N, Arribas-Ibar E, Piehl F, Hietala A, Bjarbo L, Sengun I, Meherremova A, Ozcelik P, Balkan B, Tuga C, Ugur M, Erdem-Ozdamar S, Bekircan-Kurt C, Acar N, Yilmaz E, Caliskan Y, Orsel G, Efendi H, Aydinlik S, Cavus H, Kutlu A, Becerikli G, Semiz C, Tun O, Terzi M, Dogan B, Onar M, Sen S, Cavdar T, Veske A, Norwood F, Dimitriou A, Gollogly J, Mahdi-Rogers M, Seddigh A, Sokratous G, Maier G, Sohail F, Jacob S, Sadalage G, Torane P, Brown C, Shah A, Sathasivam S, Arndt H, Davies D, Watling D, Amato A, Cochrane T, Salajegheh M, Roe K, Amato K, Toska S, Wolfe G, Silvestri N, Patrick K, Zakalik K, Katz J, Miller R, Engel M, Forshew D, Bravver E, Brooks B, Plevka S, Burdette M, Cunningham S, Sanjak M, Kramer M, Nemeth J, Schommer C, Tierney S, Juel V, Guptill J, Hobson-Webb L, Massey J, Beck K, Carnes D, Loor J, Anderson A, Pascuzzi R, Bodkin C, Kincaid J, Snook R, Guingrich S, Micheels A, Chaudhry V, Corse A, Mosmiller B, Kelley A, Ho D, Srinivasan J, Vytopil M, Jara J, Ventura N, Scala S, Carter C, Donahue C, Herbert C, Weiner E, Alam S, McKinnon J, Haar L, McKinnon N, Alcon K, McKenna K, Sattar N, Daniels K, Jeffery D, Freimer M, Hoyle J, Kissel J, Agriesti J, Chelnick S, Mezache L, Pineda C, Muharrem F, Karam C, Khoury J, Marburger T, Kaur H, Dimitrova D, Gilchrist J, Agrawal B, Elsayed M, Kohlrus S, Andoin A, Darnell T, Golden L, Lokaitis B, Seelback J, Muppidi S, Goyal N, Sakamuri S, So Y, Paulose S, Pol S, Welsh L, Bhavaraju-Sanka R, Gonzales A, Dishman L, Jones F, Gonzalez A, Padilla P, Saklad A, Silva M, Kazamel M, Alsharabati M, Lu L, Nozaki K, Mumfrey-Thomas S, Woodall A, Mozaffar T, Cash T, Goyal N, Roy G, Mathew V, Maqsood F, Minton B, Jones H, Rosenfeld J, Garcia R, Echevarria L, Garcia S, Pulley M, Aranke S, Berger A, Shah J, Shabbir Y, Smith L, Varghese M, Gutmann L, Gutmann L, Jerath N, Nance C, Swenson A, Olalde H, Kressin N, Sieren J, Barohn R, Dimachkie M, Glenn M, McVey A, Pasnoor M, Statland J, Wang Y, Liu T, Emmons K, Jenci N, Locheke J, Fondaw A, Johns K, Rico G, Walsh M, Herbelin L, Hafer-Macko C, Kwan J, Zilliox L, Callison K, Young V, DiSanzo B, Naunton K, Benatar M, Bilsker M, Sharma K, Cooley A, Reyes E, Michon S, Sheldon D, Steele J, Howard J, Karam C, Chopra M, Traub R, Vu T, Katzin L, McClain T, Harvey B, Hart A, Huynh K, Beydoun S, Chilingaryan A, Doan V, Droker B, Gong H, Karimi S, Lin F, McClain T, Pokala K, Shah A, Tran A, Akhter S, Malekniazi A, Tandan R, Hehir M, Waheed W, Lucy S, Weiss M, Distad J, Strom S, Downing S, Kim B, Nowak R, Dicapua D, Keung B, Kumar A, Patwa H, Robeson K, Yang I, Nye J, Vu H. Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study. Journal Of The Neurological Sciences 2019, 407: 116419. PMID: 31698177, DOI: 10.1016/j.jns.2019.08.004.Peer-Reviewed Original ResearchConceptsSafety of eculizumabMyasthenia gravisCaucasian patientsAnti-acetylcholine receptor antibody-positive refractoryTerminal complement inhibitor eculizumabOpen-label extension studyMyasthenia Gravis ActivitiesQuantitative Myasthenia GravisGeneralized myasthenia gravisOpen-label extensionComplement inhibitor eculizumabLong-term efficacyMyasthenia Gravis QualityMyasthenia Gravis CompositeExtension baselineWeek 52Safety profileSubgroup analysisJapanese patientsDaily livingEculizumabGravisExtension studyPatientsREGAIN study
2013
Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. The Yale Journal Of Biology And Medicine 2013, 86: 101-6. PMID: 23483815, PMCID: PMC3584487.Peer-Reviewed Original ResearchConceptsMyotonia congenitaClinical presentationPatient 1Salient clinical featuresCLCN1 geneSarcolemmal chloride conductanceClinical featuresPatient 2Muscle relaxationMuscle biopsyElectrical myotoniaGenetic testingCLCN1 mutationsCongenitaCommon typeNovel mutationsPatientsChloride conductanceRecessive formUnidentified mutationsMyotoniaGene sequencingPresentationMutationsBiopsy
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