HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies
Source
Autophagy - ISSN 1554-8627- (2023) p. 1-23
Distinct features in adult polyglucosan body disease : a case series
Source
Neuromuscular disorders - ISSN 0960-8966-33:2 (2023) p. 148-152
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease
Source
Genetics in medicine - ISSN 1098-3600-24:12 (2022) p. 2487-2500
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A
Source
Brain - ISSN 0006-8950- (2022) p. 1-28
Commentary : SPTBN5, encoding the beta V-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures
Source
Frontiers in Molecular Neuroscience - ISSN 1662-5099-15 (2022) p. 1-3