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Profiling peripheral nerve macrophages reveals two macrophage subsets with distinct localization, transcriptome and response to injury
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- Miscellaneous
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Homozygous and compound heterozygous rare variants in VPS13C contribute to Lewy body diseases
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- Journal Article
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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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Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
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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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- Journal Article
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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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Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease
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Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
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- Journal Article
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Mitochondria-associated membranes as hubs for neurodegeneration
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Developing 3D SEM in a broad biological context