Chantal Ceuterick-de Groote

TL;DR: A dose-dependent degeneration of cortical and spinal motor neurons and development of spastic quadriplegia reminiscent of ALS are shown and findings suggest that ≈25-kDa TDP-43 CTFs are noxious to neurons by a gain of aberrant nuclear function.

TL;DR: In this paper, the authors studied mitochondrial ultrastructure, mitochondrial respiratory chain enzyme activity, and mitochondrial DNA (mtDNA) in muscle, liver, and kidney samples obtained from a patient who developed optic neuropathy, encephalopathy, skeletal myopathy, lactic acidosis, and renal failure after prolonged use of linezolid.

TL;DR: These results provide direct evidence that linezolid inhibits mitochondrial protein synthesis with potentially severe clinical consequences and should be avoided if alternative treatment options are available.

TL;DR: Findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN‐RM, and implicate a necessary reassessment of the nosological boundaries in early‐onset myopathies.

TL;DR: A deletion in the b-tropomyosin (TPM2) gene causing cap disease is reported in a 36-year-old male patient with congenital muscle weakness, myopathic facies and respiratory insufficiency, the first genetic cause identified for cap disease.