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.
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.
Rodríguez Cruz PM. et al, (2020), Neuromuscul Disord
SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody.
Huda S. et al, (2020), Neurol Neuroimmunol Neuroinflamm, 7
β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure.
Vanhaesebrouck AE. et al, (2019), Brain, 142, 3713 - 3727
Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation.
Cetin H. et al, (2019), Proc Natl Acad Sci U S A, 116, 21228 - 21235
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM. et al, (2019), Brain, 142, 1547 - 1560