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Proteomics. Clinical Applications|October 15, 2016
The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysisEva Brauers, Andreas Roos, Laxmikanth Kollipara, et al.Neuromuscular Disorders : NMD|September 3, 2017
MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwideMojgan Reza, Daniel Cox, Lauren Phillips, et al.Journal of Neurology|September 6, 2024
Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophyVera Dobelmann, Andreas Roos, Andreas Hentschel, et al.Neurosurgical Review|October 12, 2018
Laboratory biomarkers of delayed cerebral ischemia after subarachnoid hemorrhage: a systematic reviewRamazan Jabbarli, Daniela Pierscianek, Marvin Darkwah Oppong, et al.European Journal of Neurology|March 23, 2022
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophyDavid C Schorling, Heike Kölbel, Andreas Hentschel, et al.Nature Neuroscience|January 7, 2015
Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALSAudrey Filézac de L'Etang, Niran Maharjan, Marisa Cordeiro Braña, et al.Scientific Reports|September 12, 2025
Age, muscle, and gender specific characterization of muscle degeneration in a mouse model of calpainopathyNicolina Südkamp, Jacqueline Heinen-Weiler, Marlena Rohm, et al.European Journal of Human Genetics : EJHG|June 2, 2021
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)Ana Töpf, Angela Pyle, Helen Griffin, et al.Frontiers in Molecular Neuroscience|March 7, 2025
Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5Menekse Oeztuerk, Diran Herebian, Kale Dipali, et al.Skeletal Muscle|July 18, 2024
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndromeCeline Chiu, Alma Küchler, Christel Depienne, et al.Pageof 21