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Page 1
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Leen WG, et al. Among authors: marina ad. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Allen NM, O'Rahelly M, Eymard B, Chouchane M, Hahn A, Kearns G, Kim DS, Byun SY, Nguyen CE, Schara-Schmidt U, Kölbel H, Marina AD, Schneider-Gold C, Roefke K, Thieme A, Van den Bergh P, Avalos G, Álvarez-Velasco R, Natera-de Benito D, Cheng MHM, Chan WK, Wan HS, Thomas MA, Borch L, Lauzon J, Kornblum C, Reimann J, Mueller A, Kuntzer T, Norwood F, Ramdas S, Jacobson LW, Jie X, Fernandez-Garcia MA, Wraige E, Lim M, Lin JP, Claeys KG, Aktas S, Oskoui M, Hacohen Y, Masud A, Leite MI, Palace J, De Vivo D, Vincent A, Jungbluth H. Allen NM, et al. Among authors: marina ad. Brain. 2023 Oct 3;146(10):4233-4246. doi: 10.1093/brain/awad153. Brain. 2023. PMID: 37186601 Free PMC article.
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252. Brain. 2023. PMID: 35857854
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients.
Jarius S, Lechner C, Wendel EM, Baumann M, Breu M, Schimmel M, Karenfort M, Marina AD, Merkenschlager A, Thiels C, Blaschek A, Salandin M, Leiz S, Leypoldt F, Pschibul A, Hackenberg A, Hahn A, Syrbe S, Strautmanis J, Häusler M, Krieg P, Eisenkölbl A, Stoffels J, Eckenweiler M, Ayzenberg I, Haas J, Höftberger R, Kleiter I, Korporal-Kuhnke M, Ringelstein M, Ruprecht K, Siebert N, Schanda K, Aktas O, Paul F, Reindl M, Wildemann B, Rostásy K; in cooperation with the BIOMARKER study group and the Neuromyelitis optica Study Group (NEMOS). Jarius S, et al. Among authors: marina ad. J Neuroinflammation. 2020 Sep 3;17(1):262. doi: 10.1186/s12974-020-01825-1. J Neuroinflammation. 2020. PMID: 32883358 Free PMC article.
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.
Chiu C, Küchler A, Depienne C, Preuße C, Marina AD, Reis A, Kaiser FJ, Nolte K, Hentschel A, Schara-Schmidt U, Kölbel H, Roos A. Chiu C, et al. Among authors: marina ad. Skelet Muscle. 2024 Jul 18;14(1):15. doi: 10.1186/s13395-024-00348-0. Skelet Muscle. 2024. PMID: 39026379 Free PMC article.
18 results