FISIOLOGÍA
Departamento
Centre National de la Recherche Scientifique
París, FranciaPublicaciones en colaboración con investigadores/as de Centre National de la Recherche Scientifique (3)
2013
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A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies
JAMA Neurology, Vol. 70, Núm. 6, pp. 727-735
2009
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A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease
American Journal of Human Genetics, Vol. 84, Núm. 5, pp. 558-566
2008
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ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency
American Journal of Human Genetics, Vol. 82, Núm. 3, pp. 661-672