Mark Screen

TL;DR: In this paper, the authors present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macro-autophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.

TL;DR: The data identify the genetic cause of LGMD1D, suggest that its pathogenesis is mediated by defective chaperone function and highlight how mutations in a ubiquitously expressed gene can exert effects in a tissue-, isoform- and cellular compartment–specific manner.

TL;DR: A study was undertaken to identify the molecular cause of Welander distal myopathy (WDM), a classic autosomal dominant distal Myopathy.

TL;DR: This study aimed to clarify the molecular cause of the variant phenotypes in 8 patients of 7 European families with previously reported titin gene (TTN) mutations causing tibial muscular dystrophy.