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O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects2023 Neuromuscular Disorders conference-abstract Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Andreas Roos, P. van der Ven, Hadil Alrohaif, Heike Kölbel, Lorena Heil, Adela Della Marina, +12 more
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P171 LiBi-NMD: liquid biopsies in neuromuscular diseases – the underrated value of white blood cells2023 Neuromuscular Disorders conference-abstract Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Andreas Hentschel, Adela Della Marina, H. Köbel, Andrea Gangfuß, Maike Franziska Dohrn, Joachim Weis, +6 more
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P405 First clinical and myopathological description of a congenital myopathy based on a homozygous variant in TNNI22023 Neuromuscular Disorders conference-abstract Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Andreas Roos, Heike Kölbel, Angela Abicht, Andreas Hentschel, Ulrike Schara, Cornelia Kornblum, +2 more
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04PNovel mouse model for inclusion body myositis: transgenic upregulation of lymphotoxin together with impaired autophagy induces inflammation and protein accumulation in skeletal muscle2025 Neuromuscular Disorders article Medicine Inflammatory Myopathies and Dermatomyositis Open access
Juliane Bremer, Jana Zschüntzsch, Kamil K. Zajt, Tayfun Palaz, Thomas Blank, Aylin Ikis, +10 more
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