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Page 1
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M. Domínguez-González C, et al. Among authors: kleinsteuber k. Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17. Ann Neurol. 2019. PMID: 31125140 Free PMC article.
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M. Garone C, et al. Among authors: kleinsteuber k. J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30. J Med Genet. 2018. PMID: 29602790 Free PMC article.
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G. Ben Yaou R, et al. Among authors: kleinsteuber ks. Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul. Brain Commun. 2021. PMID: 34240052 Free PMC article.
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M, González-Hormazábal P, Abaji M, Courrier S, Puppo F, Mathieu Y, Trangulao A, Earle N, Castiglioni C, Díaz J, Campero M, Hughes R, Vargas C, Cortés R, Kleinsteuber K, Acosta I, Urtizberea JA, Lévy N, Bartoli M, Krahn M, Jara L, Caviedes P, Gorokhova S, Bevilacqua JA. Cerino M, et al. Among authors: kleinsteuber k. Genes (Basel). 2022 Jun 16;13(6):1076. doi: 10.3390/genes13061076. Genes (Basel). 2022. PMID: 35741838 Free PMC article.
[Delayed diagnosis of Duchenne muscular dystrophy in Chile].
de los Angeles Avaria M, Kleinsteuber K, Herrera L, Carvallo P. de los Angeles Avaria M, et al. Among authors: kleinsteuber k. Rev Med Chil. 1999 Jan;127(1):65-70. Rev Med Chil. 1999. PMID: 10436681 Spanish.
Myotonic dystrophy in a female with myasthenia gravis.
de los Angeles Avaria M, Kleinsteuber K, Novoa F, Faundez P, Carvallo P. de los Angeles Avaria M, et al. Among authors: kleinsteuber k. Pediatr Neurol. 2007 Jun;36(6):421-3. doi: 10.1016/j.pediatrneurol.2007.01.014. Pediatr Neurol. 2007. PMID: 17560508
26 results