Colleges
Websites
Pedro M Rodriguez Cruz
MD, MSc
DPhil Student
- 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
Recent publications
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Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
Journal article
Rodríguez Cruz PM. et al, (2016), J Neurol Neurosurg Psychiatry, 87, 802 - 809
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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Journal article
Logan CV. et al, (2015), Am J Hum Genet, 97, 878 - 885
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Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.
Journal article
Rodríguez Cruz PM. et al, (2015), Neurology, 85, 1043 - 1047
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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Journal article
Belaya K. et al, (2015), Brain, 138, 2493 - 2504
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Use of cell-based assays in myasthenia gravis and other antibody-mediated diseases
Journal article
Rodriguez Cruz PM. et al, (2014), Experimental Neurology, 270, 66 - 71