Pedro M Rodriguez Cruz
Clinical Research Fellow
- I have a special interest in neuromuscular disorders and rare diseases.
- My DPhil work, under the supervision of Prof David Beeson and Prof Jacqueline Palace, consisted in the clinical and molecular characterisation of novel myasthenic syndromes, a group of heterogeneous disorders caused by mutations in genes encoding for proteins that are essential for neuromuscular transmission.
- I am currently interested in the identification of novel disease genes and the understanding of disease mechanisms to develop appropriate therapeutic interventions. My ultimate goal is to improve patients quality of life.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM. et al, (2019), Brain, 142, 1547 - 1560
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Rodríguez Cruz PM. et al, (2018), Int J Mol Sci, 19
Molecular characterization of congenital myasthenic syndromes in Spain.
Natera-de Benito D. et al, (2017), Neuromuscul Disord, 27, 1087 - 1098
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