Research groups
Colleges
Pedro M Rodriguez Cruz
MD, DPhil
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.
Websites
Recent publications
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SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody.
Journal article
Huda S. et al, (2020), Neurol Neuroimmunol Neuroinflamm, 7
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β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure.
Journal article
Vanhaesebrouck AE. et al, (2019), Brain
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Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation.
Journal article
Cetin H. et al, (2019), Proc Natl Acad Sci U S A
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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Journal article
Rodríguez Cruz PM. et al, (2019), Brain, 142, 1547 - 1560
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The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Journal article
Rodríguez Cruz PM. et al, (2018), Int J Mol Sci, 19