Desnuelle, C.

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Müller, K., Marroquin, N., Nordin, F., Hübers, A., Weydt, P., et al. (2015) · Nature Neuroscience

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

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A functionally dominant mitochondrial DNA mutation

Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., et al. (2008) · Human Molecular Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

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31 P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies

Bendahan, D., Desnuelle, C., Vanuxem, D., Confort-Gouny, S., Figarella-Branger, D., Pellissier, J. F., Kozak-Ribbens, G., Pouget, J., Serratrice, G., & Cozzone, P. J. (1992) · Neurology

Coenzyme Q10 studies and effectsMitochondrial Function and Pathology

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