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HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)
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Profiling peripheral nerve macrophages reveals two macrophage subsets with distinct localization, transcriptome and response to injury
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Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution
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Sensory-neuropathy-causing mutations in ATL3 cause aberrant ER membrane tethering
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A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8
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HSPB1 facilitates ERK-mediated phosphorylation and degradation of BIM to attenuate endoplasmic reticulum stress-induced apoptosis
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Mitochondria-associated membranes as hubs for neurodegeneration