Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A
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Brain - ISSN 0006-8950-146:7 (2023) p. 2885-2896
Genetic pain loss disorders
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Nature reviews disease primers - ISSN 2056-676X-8:1 (2022) p. 1-23
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction
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Brain - ISSN 0006-8950-144:8 (2021) p. 2471-2485
A weakened interface in the P182L variant of HSP27 associated with severe Charcot-Marie-Tooth neuropathy causes aberrant binding to interacting proteins
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The EMBO journal - ISSN 0261-4189-40:8 (2021) p.
BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes
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Scientific reports - ISSN 2045-2322-10:1 (2020) p.
Profiling peripheral nerve macrophages reveals two macrophage subsets with distinct localization, transcriptome and response to injury
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Nature neuroscience - ISSN 1097-6256-23:5 (2020) p. 676-689
Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies
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Autophagy - ISSN 1554-8627-15:6 (2019) p. 1051-1068