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I am a Principal Investigator at Cambridge Institute for Medical Research and a Fellow at St. Edmund’s College Cambridge. I graduated in Medicine from Glasgow University in 1991. After qualifying as a doctor I completed the MRCP in adult medicine, before undergoing specialist training in Medical Genetics, first in Glasgow, then in Cambridge. I obtained a PhD in Medical Genetics from Cambridge University in 2001. After this I held a Lectureship/Honorary Consultant post in Medical Genetics at Cambridge until 2004, before becoming first a Wellcome Trust Advanced Fellow and then, in 2008, a Wellcome Trust Senior Research Fellow in Clinical Science. In 2014 I was appointed to a University Lecturer position in the Department of Medical Genetics. Since 1995 my research has focused on the hereditary spastic paraplegias (HSPs), genetic conditions in which the corticospinal tract motor neuron axons degenerate. This research has evolved from gene mapping and identification studies to concentrate on cell biological studies, particularly in the role of HSP proteins in membrane traffic. The overall aims of my research are to understand the normal function of selected HSP proteins, to determine how abnormality of these functions leads to the disease, and to use this knowledge to rationally design new therapeutic strategies for the disorder.
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论文共 118 篇作者统计合作学者相似作者
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Eliska Zlamalova,Catherine Rodger, Francesca Greco, Julia Kleniuk, Aishwarya G Nadadur, Zuzana Kadlecova,Evan Reid
biorxiv(2024)
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 1 (2023): 310-310
Handbook of clinical neurology (2023): 79-98
American journal of human geneticsno. 8 (2023): 1343-1355
American Journal of Medical Genetics Part Ano. 11 (2021): 3446-3458
Neurologyno. 22 (2021)
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