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Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch.
Dzinovic I, Graf E, Brugger M, Berutti R, Příhodová I, Blaschek A, Winkelmann J, Jech R, Vill K, Zech M. Dzinovic I, et al. Among authors: blaschek a. Mov Disord Clin Pract. 2023 Jun 20;10(7):1159-1161. doi: 10.1002/mdc3.13793. eCollection 2023 Jul. Mov Disord Clin Pract. 2023. PMID: 37476319 Free PMC article. No abstract available.
T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome.
Harting I, Blaschek A, Wolf NI, Seitz A, Haupt M, Goebel HH, Rating D, Sartor K, Ebinger F. Harting I, et al. Among authors: blaschek a. Neurology. 2004 Dec 28;63(12):2448-9. doi: 10.1212/01.wnl.0000147324.74071.3e. Neurology. 2004. PMID: 15623732 No abstract available.
Protein aggregation in congenital myopathies.
Goebel HH, Blaschek A. Goebel HH, et al. Among authors: blaschek a. Semin Pediatr Neurol. 2011 Dec;18(4):272-6. doi: 10.1016/j.spen.2011.10.009. Semin Pediatr Neurol. 2011. PMID: 22172423 Review.
Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome.
Hennes EM, Baumann M, Schanda K, Anlar B, Bajer-Kornek B, Blaschek A, Brantner-Inthaler S, Diepold K, Eisenkölbl A, Gotwald T, Kuchukhidze G, Gruber-Sedlmayr U, Häusler M, Höftberger R, Karenfort M, Klein A, Koch J, Kraus V, Lechner C, Leiz S, Leypoldt F, Mader S, Marquard K, Poggenburg I, Pohl D, Pritsch M, Raucherzauner M, Schimmel M, Thiels C, Tibussek D, Vieker S, Zeches C, Berger T, Reindl M, Rostásy K; BIOMARKER Study Group. Hennes EM, et al. Among authors: blaschek a. Neurology. 2017 Aug 29;89(9):900-908. doi: 10.1212/WNL.0000000000004312. Epub 2017 Aug 2. Neurology. 2017. PMID: 28768844 Free article.
Antibodies to MOG are transient in childhood acute disseminated encephalomyelitis.
Pröbstel AK, Dornmair K, Bittner R, Sperl P, Jenne D, Magalhaes S, Villalobos A, Breithaupt C, Weissert R, Jacob U, Krumbholz M, Kuempfel T, Blaschek A, Stark W, Gärtner J, Pohl D, Rostasy K, Weber F, Forne I, Khademi M, Olsson T, Brilot F, Tantsis E, Dale RC, Wekerle H, Hohlfeld R, Banwell B, Bar-Or A, Meinl E, Derfuss T. Pröbstel AK, et al. Among authors: blaschek a. Neurology. 2011 Aug 9;77(6):580-8. doi: 10.1212/WNL.0b013e318228c0b1. Epub 2011 Jul 27. Neurology. 2011. PMID: 21795651
107 results