Pedro M Rodriguez Cruz
- Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding for proteins that are essential for neuromuscular transmission.
- My DPhil work, under the supervision of Prof David Beeson and Dr Jacqueline Palace, consisted in the clinical and molecular characterisation of novel myasthenic syndromes, with a focus in understanding disease mechanisms to guide appropriate pharmacological treatment
Muscle magnetic resonance imaging in congenital myasthenic syndromes.
Finlayson S. et al, (2016), Muscle Nerve, 54, 211 - 219
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
Rodríguez Cruz PM. et al, (2016), J Neurol Neurosurg Psychiatry, 87, 802 - 809
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Logan CV. et al, (2015), Am J Hum Genet, 97, 878 - 885
Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.
Rodríguez Cruz PM. et al, (2015), Neurology, 85, 1043 - 1047
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Belaya K. et al, (2015), Brain, 138, 2493 - 2504