Biography

I am a Child Neurologist with 25 years of clinical experience in Paediatric Neurology and the neuromuscular field. My main research interest is in early-onset neuromuscular and neurodevelopmental disorders. I have been leading the genetic characterization of congenital myopathies, in particular those affecting excitation-contraction coupling, the molecular basis of movement. My research group has defined the concept of autophagy disorders, a novel class of neurometabolic conditions linking aberrant neurodevelopment with common adult-onset neurodegenerative disorders including Parkinson’s and amyotrophic lateral sclerosis (ALS). I have published more than 170 peer-reviewed papers and chapters in key textbooks. I am a member of various editorial boards, as well as national and international expert consortia concerned with improving the care and developing therapies for neuromuscular and neurological disease.

Please see my Research Staff Profile for more detail.

Key Publications:

• Jungbluth et al., 2018. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. Nat Rev Neurol.
• Byrne et al., 2016. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain.
• Cullup et al., 2013. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nature Genetics.

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Key Collaborators:

• Professor Mathias Gautel, King's College London
• Dr Manolis Fanto, King's College London
• Professor Susan Treves, University of Basle
• Dr Nicol Voermans, Radboud University Nijmegen