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Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Among authors: eisenkolbl a. Orphanet J Rare Dis. 2022 Oct 23;17(1):384. doi: 10.1186/s13023-022-02547-8. Orphanet J Rare Dis. 2022. PMID: 36274155 Free PMC article.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Among authors: eisenkolbl a. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 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. Among authors: eisenkolbl a. Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252. Brain. 2023. PMID: 35857854
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.
Wendel EM, Thonke HS, Bertolini A, Baumann M, Blaschek A, Merkenschlager A, Karenfort M, Kornek B, Lechner C, Pohl D, Pritsch M, Schanda K, Schimmel M, Thiels C, Waltz S, Wiegand G, Anlar B, Barisic N, Blank C, Breu M, Broser P, Della Marina A, Diepold K, Eckenweiler M, Eisenkölbl A, Freilinger M, Gruber-Sedlmayr U, Hackenberg A, Iff T, Knierim E, Koch J, Kutschke G, Leiz S, Lischetzki G, Nosadini M, Pschibul A, Reiter-Fink E, Rohrbach D, Salandin M, Sartori S, Schlump JU, Stoffels J, Strautmanis J, Tibussek D, Tüngler V, Utzig N, Reindl M, Rostásy K; BIOMARKER Study Group. Wendel EM, et al. Among authors: eisenkolbl a. Neurol Neuroimmunol Neuroinflamm. 2022 Oct 13;9(6):e200035. doi: 10.1212/NXI.0000000000200035. Print 2022 Nov. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 36229191 Free PMC article.
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: eisenkolbl a. Neurology. 2017 Aug 29;89(9):900-908. doi: 10.1212/WNL.0000000000004312. Epub 2017 Aug 2. Neurology. 2017. PMID: 28768844 Free article.
Clinical and neuroradiological differences of paediatric acute disseminating encephalomyelitis with and without antibodies to the myelin oligodendrocyte glycoprotein.
Baumann M, Sahin K, Lechner C, Hennes EM, Schanda K, Mader S, Karenfort M, Selch C, Häusler M, Eisenkölbl A, Salandin M, Gruber-Sedlmayr U, Blaschek A, Kraus V, Leiz S, Finsterwalder J, Gotwald T, Kuchukhidze G, Berger T, Reindl M, Rostásy K. Baumann M, et al. Among authors: eisenkolbl a. J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):265-72. doi: 10.1136/jnnp-2014-308346. Epub 2014 Aug 13. J Neurol Neurosurg Psychiatry. 2015. PMID: 25121570
Facial nerve paralysis in children: is it as benign as supposed?
Biebl A, Lechner E, Hroncek K, Preisinger A, Eisenkölbl A, Schmitt K, Furthner D. Biebl A, et al. Among authors: eisenkolbl a. Pediatr Neurol. 2013 Sep;49(3):178-81. doi: 10.1016/j.pediatrneurol.2013.03.013. Epub 2013 Jul 4. Pediatr Neurol. 2013. PMID: 23831251
MRI of the first event in pediatric acquired demyelinating syndromes with antibodies to myelin oligodendrocyte glycoprotein.
Baumann M, Grams A, Djurdjevic T, Wendel EM, Lechner C, Behring B, Blaschek A, Diepold K, Eisenkölbl A, Fluss J, Karenfort M, Koch J, Konuşkan B, Leiz S, Merkenschlager A, Pohl D, Schimmel M, Thiels C, Kornek B, Schanda K, Reindl M, Rostásy K. Baumann M, et al. Among authors: eisenkolbl a. J Neurol. 2018 Apr;265(4):845-855. doi: 10.1007/s00415-018-8781-3. Epub 2018 Feb 8. J Neurol. 2018. PMID: 29423614
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, Laccone F, Iglseder S, Marte S, Baumgartner M, Eisenkölbl A, Liechtenstein C, Rudnik S, Quasthoff S, Grinzinger S, Spenger J, Wortmann SB, Löscher WN, Zimprich F, Kellersmann A, Rappold M, Bernert G, Freilinger M, Cetin H. Krenn M, et al. Among authors: eisenkolbl a. J Neurol. 2023 Feb;270(2):909-916. doi: 10.1007/s00415-022-11440-0. Epub 2022 Oct 29. J Neurol. 2023. PMID: 36308527 Free PMC article.
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: eisenkolbl a. J Neuroinflammation. 2020 Sep 3;17(1):262. doi: 10.1186/s12974-020-01825-1. J Neuroinflammation. 2020. PMID: 32883358 Free PMC article.