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Target formation in muscle fibres indicates reinnervation - A proteomic study in muscle samples from peripheral neuropathiesNEUROPATHOLOGY AND APPLIED NEUROBIOLOGYIF3.42022-10-173OAAI
FLNC-Associated Myofibrillar Myopathy New Clinical, Functional, and Proteomic DataNEUROLOGY-GENETICSIF3.72021-06-0119OAAI
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle diseaseACTA NEUROPATHOLOGICAIF9.32020-05-2521OAAI
A metastable subproteome underlies inclusion formation in muscle proteinopathiesACTA NEUROPATHOLOGICA COMMUNICATIONSIF5.72019-12-0318OAAI
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere functionACTA NEUROPATHOLOGICA COMMUNICATIONSIF5.72017-09-1541OAAI
Diffusion Tensor Imaging of the Human Calf: Variation of Inter- and Intramuscle-Specific Diffusion ParametersJOURNAL OF MAGNETIC RESONANCE IMAGINGIF3.52017-02-0232OAAI
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositisANNALS OF NEUROLOGYIF7.72017-01-2765OAAI
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvementNEUROLOGYIF8.52016-11-2226PREAI
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissueACTA NEUROPATHOLOGICAIF9.32016-07-0856OAAI
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analysesACTA NEUROPATHOLOGICA COMMUNICATIONSIF5.72016-02-0351OAAI
Myofibrillar instability exacerbated by acute exercise in filaminopathyHUMAN MOLECULAR GENETICSIF3.22015-10-1552OAAI
Th2-M2 immunity in lesions of muscular sarcoidosis and macrophagic myofasciitisNEUROPATHOLOGY AND APPLIED NEUROBIOLOGYIF3.42015-05-1915PREAI
Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutationsAUTOPHAGYIF14.32014-10-2734OAAI
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathiesORPHANET JOURNAL OF RARE DISEASESIF3.52014-08-0140OAAI
Pregnancy and delivery in women with Pompe diseaseMOLECULAR GENETICS AND METABOLISMIF3.52014-06-0119PREAI
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