Publications by Elena Martoni - ePrints

Newcastle Authors	Title	Year
Elena Martoni Professor Hanns Lochmuller Professor Volker Straub Emerita Professor Katherine Bushby	Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy	2016
Dr Debbie Hicks Dr Steven Laval Dr Anna Sarkozy Elena Martoni Professor Hanns Lochmuller et al.	Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy	2014
Dr Debbie Hicks Dr Steven Laval Dr Anna Sarkozy Elena Martoni Professor Hanns Lochmuller et al.	Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy	2014
Dr Debbie Hicks Dr Steven Laval Elena Martoni Dr Asif Shah Professor Hanns Lochmuller et al.	Collagen XII as a new disease gene for Bethlem-like myopathy	2013
Dr Debbie Hicks Elena Martoni Professor Volker Straub Professor Hanns Lochmuller Dr Steven Laval et al.	Identification of novel variants in patients with non-collagen VI Bethlem myopathy by the emerging technology of exomic sequencing	2012