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Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution
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- Journal Article
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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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Characterization of new transgenic mouse models for two Charcot-Marie-tooth-causing HspB1 mutations using the Rosa26 locus
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Nlrp6 promotes recovery after peripheral nerve injury independently of inflammasomes
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HSPB1 facilitates the formation of non-centrosomal microtubules
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Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients
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- Journal Article
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Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy
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Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-tooth neuropathy
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Mutant HSPB8 causes motor neuron-specific neurite degeneration