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
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Rodríguez Cruz PM. et al, (2018), Int j mol sci, 19
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
Rodríguez Cruz PM. et al, (2016), J neurol neurosurg psychiatry, 87, 802 - 809
Muscle magnetic resonance imaging in congenital myasthenic syndromes.
Finlayson S. et al, (2016), Muscle nerve, 54, 211 - 219
Use of cell-based assays in myasthenia gravis and other antibody-mediated diseases
Rodriguez Cruz PM. et al, (2015), Experimental neurology, 270, 66 - 71
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