A reference human induced pluripotent stem cell line for large-scale collaborative studies
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Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A
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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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