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Annals of Neurology|June 4, 2025
Autosomal Recessive Cerebellar Ataxias: Translating Genes to TherapiesBrent L Fogel, Thomas Klopstock, David R Lynch, et al.Children (Basel, Switzerland)|September 28, 2021
Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing MyopathyAdela Della Marina, Marc Pawlitzki, Tobias Ruck, et al.Frontiers in Cell and Developmental Biology|October 25, 2021
Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone <i>DNAJC3</i>Matthew J Jennings, Denisa Hathazi, Chi D L Nguyen, et al.Journal of Neuromuscular Diseases|January 16, 2026
Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy <i>SMN2</i> model offers ideal translational relevanceMarkus Leo, Linda-Isabell Schmitt, Kai Christine Liebig, et al.Journal of Neuromuscular Diseases|April 5, 2024
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated PhenotypesAdela Della Marina, Andreas Hentschel, Artur Czech, et al.Human Molecular Genetics|April 22, 2026
The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathiesMenekse Oeztuerk, Sara Walli, David Muhmann, et al.International Journal of Molecular Sciences|August 7, 2021
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRSFrederik Braun, Andreas Hentschel, Albert Sickmann, et al.Neuropediatrics|December 22, 2020
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular DiseaseMagdalena Mroczek, Dimitrios Zafeiriou, Juliana Gurgel-Gianetti, et al.Journal of Neurology|November 4, 2023
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case seriesAlessia Pugliese, Adela Della Marina, Eduardo de Paula Estephan, et al.Acta Neuropathologica|September 19, 2025
Complement profiling of sural nerves in chronic-inflammatory demyelinating polyneuropathyFrauke Stascheit, Andreas Roos, Christina B Schroeter, et al.Pageof 21