Andrea Gangfuß - University of Duisburg-Essen

Andrea Gangfuss, Guido Goj, Silke Polz,Adela Della Marina, Katja Ahlbory, Timo Deba, Urania Kotzaeridou, Elisabeth Schuler,Astrid Pechmann, Uta Diebold, Gerd Kurlemann,Kevin Rostasy, Lukas Heinzkyll, Dirk Schmitt, Johann Boehm, Heike Koelbel,Andreas Roos, Ulrike Schara-Schmidt

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024): S22-S23

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A HOMOZYGOUS NDUFS6 VARIANT ASSOCIATED WITH NEUROPATHY, OPTIC ATROPHY AND PROTEIN CHANGES

Andrea Gangfuss, Philipp Rating, Tomas Ferreira,Andreas Hentschel,Adela Della Marina, Heike Koelbel,Albert Sickmann, Angela Abicht,Florian Kraft, Tobias Ruck, Johann Bohm, Anne Schaenzer, Ulrike Schara-Schmidt, Teresa Neuhann,Rita Horvath,Andreas Roos

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024): S22-S22

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PEDIATRIC COMMUNITY-ACQUIRED BRAIN ABSCESSES: A Single-center Retrospective Study

Kevin Hai-Ning Lu,Nora Bruns, Christina Pentek,Adela Della Marina,Andrea Gangfuss,Heike Koelbel,Burcin Dogan,Jan Dziobaka,Yahya Ahmadipour, Philipp Damman,Ursula Felderhoff-Mueser,Christian Dohna-Schwake,Sarah Christina Goretzki

PEDIATRIC INFECTIOUS DISEASE JOURNALno. 6 (2024): e214-e217

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Distinct Neonatal Hyperammonemia and Liver Synthesis Dysfunction: Case Report of a Severe MEGDHEL Syndrome

Ina Kirchberg,Elke Lainka,Andrea Gangfuss,Alma Kuechler,Fabian Baertling,Lea D. Schlieben,Dominic Lenz,Eva Tschiedel

FRONTIERS IN PEDIATRICS (2024)

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74P Update on GNE-myopathy: Introduction of Tissue and Blood Biomarkers and a Novel Homozygous Missense Variant Associated with Early Disease Onset and Proximal Involvement

A. Roos, V. Dobelmann,A. Hentschel,T. Hagenacker, A. Derksen, A. Osmanovic, T. Evangelista,A. Gangfuss, F. Kaiser,U. Schara-Schmidt,T. Ruck, M. Savarese, H. Lochmüller

Neuromuscular Disorders（2024）

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Biallelic Truncating Variants in PACSIN3 Cause Childhood-Onset Myopathy with Hyperckaemia

Felix Distelmaier,Abdullah Sezer, Christina Helm,Stephan Waldmueller,Annette Seibt,Andrea Gangfuss,Heike Koelbel,Ulrike Schara-Schmidt,Deniz Yuksel,Beril Talim,Ertan Mayatepek,Stefan Nikolin,Joachim Weis,Andreas Roos,Tobias B. Haack

Neuropediatrics NEP 49th Annual Meeting of the Society for Neuropediatrics 2024 (2024)

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A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy

Andrea Gangfuss,Philipp Rating,Tomas Ferreira,Andreas Hentschel,Adela Della Marina,Heike Koelbel,Albert Sickmann,Angela Abicht,Florian Kraft,Tobias Ruck,Johann Boehm,Anne Schaenzer,Ulrike Schara-Schmidt,Teresa M. Neuhann,Rita Horvath,Andreas Roos

Journal of Neuromuscular Diseases（2024）

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