Astrid Eisenkölbl
Pediatric Neurologist and Neuromuscular Specialist
Clinical and research fellow
Email AstridDr. Astrid Eisenkölbl is a pediatric neurologist with specialization in neuromuscular medicine at the Department for Paediatric and Adolescent Medicine at the Kepler University Hospital in Linz, Austria. Astrid will join Dr. Lochmüller‘s for a clinical and research fellowship to deepen her clinical knowledge and gain new insights in neuromuscular research.
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Recent publications
Weiß, C, Becker, LL, Friese, J, Blaschek, A, Hahn, A, Illsinger, S et al.. Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study. Lancet Reg Health Eur. 2024.47 101092 PMID:39434961
Peternell, A, Lechner, C, Breu, M, Preisel, M, Schimmel, M, Eisenkölbl, A et al.. Blood parameters in pediatric myelin oligodendrocyte glycoprotein antibody-associated disorders. Eur J Paediatr Neurol. 2024.50 86-95 PMID:38705015
Schwartz, O, Vill, K, Pfaffenlehner, M, Behrens, M, Weiß, C, Johannsen, J et al.. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial. JAMA Pediatr. 2024.178 (6)540-547 PMID:38587854
Pühringer, M, Eisenkölbl, A, Gröppel, G. Corrigendum to "Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1". Mol Genet Metab Rep. 2024.38 101039 PMID:38469095
Eisenkölbl, A, Pühringer, M. Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies - A Case Report. J Neuromuscul Dis. 2024.11 (2)493-498 PMID:38306058
Pühringer, M, Eisenkölbl, A, Gröppel, G. Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1. Mol Genet Metab Rep. 2024.38 101031 PMID:38077957
Pechmann, A, Behrens, M, Dörnbrack, K, Tassoni, A, Wenzel, F, Stein, S et al.. Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study. J Neuromuscul Dis. 2023.10 (1)29-40 PMID:36565133
Krenn, M, Sener, M, Rath, J, Zulehner, G, Keritam, O, Wagner, M et al.. The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study. J Neurol. 2023.270 (2)909-916 PMID:36308527
Pechmann, A, Behrens, M, Dörnbrack, K, Tassoni, A, Wenzel, F, Stein, S et al.. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study. Orphanet J Rare Dis. 2022.17 (1)384 PMID:36274155
Wendel, EM, Thonke, HS, Bertolini, A, Baumann, M, Blaschek, A, Merkenschlager, A et al.. Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome. Neurol Neuroimmunol Neuroinflamm. 2022.9 (6) PMID:36229191
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