Sara E. Mole

MRC LMCB University College London, London, United Kingdom 
genetic disease, neurodegeneration, lysosomes, Batten disease, Chediak-Higashi Syndrome
"Sara Mole"
Cross-listing: PombeTree


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Rebecca L. Haines grad student 2005-2009 UCL (PombeTree)
Sandra Codlin post-doc 2002-2009 UCL (PombeTree)


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Fred Chang collaborator 2005- UCL (PombeTree)
Jerry Hyams collaborator 2001-2005 UCL (PombeTree)
Yannick Gachet collaborator 2002-2005 UCL (PombeTree)
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Fietz M, AlSayed M, Burke D, et al. (2016) Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Molecular Genetics and Metabolism
Berkovic SF, Staropoli JF, Carpenter S, et al. (2016) Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology
Faller KM, Bras J, Sharpe SJ, et al. (2016) The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? Journal of Neuroscience Research
Kohan R, Mole SE, Cotman SL. (2015) Special issue: Molecular basis of NCL. Biochimica Et Biophysica Acta. 1852: 2235-6
Cismondi IA, Kohan R, Adams H, et al. (2015) Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. Biochimica Et Biophysica Acta
Mole SE, Cotman SL. (2015) Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochimica Et Biophysica Acta
Cotman SL, Mole SE, Kohan R. (2015) Future perspectives: Moving towards NCL treatments. Biochimica Et Biophysica Acta
Hersheson J, Burke D, Clayton R, et al. (2014) Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology. Neurology. 83: 1873-5
Mole SE. (2014) Development of new treatments for Batten disease. The Lancet. Neurology. 13: 749-51
Cortese A, Tucci A, Piccolo G, et al. (2014) Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology. 82: 2072-6
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