R. Thompson

Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’

H. Lochmüller, S. Spendiff, A. Manta, 2021, Journal of neuromuscular diseases.

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

Hanns Lochmüller, H. Lochmüller, C. Ortez, 2016, Journal of Neurology.

A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2

Yan Liu, S. Su, Shengfang Jin, 2016, Human molecular genetics.