Dr. Andreas Hentschel

Gene Therapy, Bd. 2026, 2026

Georgiou E, Kagiava A, Hentschel A, Sargiannidou I, Papacharalampous R, Stavrou M, Tryfonos C, Richter J, Roos A, Kleopa KA.

A dose-escalation and safety gene therapy study in a model of CMT4C neuropathy

Journal of Neurology, Bd. 273, Nr. 2, 2026, S. 94

Mroczek M, Preusse C, Hentschel A, Chroscinska-Krawczyk M, Bielak M, Sobolewska A, Della Marina A, Hila A, Iyadurai S, Kraft F, Chetty VK, Muhmann D,…

Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkers

Clinical Genetics, Bd. 2026, Nr. 5, 2026, S. 978-983

Kilicarslan OA, Gangfuß A, Hentschel A, Koelbel H, Muhmann D, Töpf A, Stöhr M, Chen L, Horvath R, Thompson R, Schara-Schmidt U, Kurth I, Lochmüller…

A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia

Journal of Clinical Medicine, Bd. 14, Nr. 24, 2025

Aksel Kilicarslan O, Gangfuss A, Kolbel H, Muhmann D, Polavarapu K, Thompson R, Schmitt L, Lessard L, Chen L, Eisenkolbl A, Schara-Schmidt U,…

Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report

Journal of Proteome Research, Bd. 2025, 2025, S. 484-490

Lange E, Schallert K, Schwerdt J, Ghosh S, Hentschel A, Reinders Y, Heyer R.

The Omics Molecule Extractor: A Web Application for the Selection of Potential Biomarker Panels

Journal of Neuropathology and Experimental Neurology, Bd. 85, Nr. 4, 2025, S. 351-362

Merlet AN, Lacene E, Nelson I, Brochier G, Labasse C, Chanut A, Madelaine A, Beuvin M, Bonne G, Feasson L, Minot M, Noury J, Fradin M, Savarese M,…

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA)

Acta Neuropathologica, Bd. 2025, Nr. 1, 2025

Stascheit F, Roos A, Schroeter CB, Thomas JK, Hahn K, Preßler H, Hentschel A, Schlotter-Weigel B, Schoser B, Ruck T, Meisel A, Stenzel W, Preusse C.

Complement profiling of sural nerves in chronic inflammatory demyelinating polyneuropathy

Brain, Bd. 148, Nr. 8, 2025, S. 2869-2882

Malaichamy S, Idoux R, Polavarapu K, Sikic K, Holla E, Thompson R, Spendiff S, Schaenzer A, Kuesters B, Freeman E, Hentschel A, O'Neil D,…

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle

Orphanet Journal of Rare Diseases, Bd. 20, Nr. 1, 2025

Paul L, Schaenzer A, Depienne C, Hentschel A, Kohlschmidt N, Schara-Schmidt U, Nelke CJ, Roos A, Koelbel H.

Lessons learned from a muscle study in nail-patella syndrome

Acta Neuropathologica Communications, Bd. 13, Nr. 1, 2025

Della Marina A, Rink L, Hentschel A, Schuendeln MM, Nelke C, Koelbel H, Tucht C, Dobelmann V, Ruck T, Hagenacker T, Evangelista T, Schara-Schmidt U,…

Co-occurrence of myositis and neuropathy after anti-CD30 therapy in a late-adolescent Hodgkin lymphoma patient