Manuel Pühringer

Pediatrician

Clinical and research fellow

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Dr. Manuel Pühringer is a pediatrician in neuropediatric training with specialization in neuromuscular medicine at the Kepler University Hospital in Linz, Austria. Manuel has joined Dr. Lochmüller and Dr. McMillan‘s research group at CHEO RI for a clinical and research fellowship to deepen his clinical knowledge and gain new insights in neuromuscular research.

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ResearchGate profile

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

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

Vill, K, Tacke, M, König, A, Baumann, M, Baumgartner, M, Steinbach, M et al.. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2. J Neurol. 2024.271 (5)2787-2797 PMID:38409538

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

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

Pechmann, A, Behrens, M, Dörnbrack, K, Tassoni, A, Stein, S, Vogt, S et al.. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. Brain. 2023.146 (2)668-677 PMID:35857854

Schorling, DC, Kölbel, H, Hentschel, A, Pechmann, A, Meyer, N, Wirth, B et al.. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy. Eur J Neurol. 2022.29 (7)2084-2096 PMID:35318785

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