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Manuèle Miné

Necker-Enfants Malades Hospital

12

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317

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Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication.

2021 Neurology Genetics
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Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

2011 Molecular Genetics and Metabolism
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A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

2007 Human Mutation
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Leigh's disease due to a new mutation in the PDHX gene

2006 Annals of Neurology
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A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency

2006 Molecular Genetics and Metabolism
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First characterization of a large deletion of the PDHA1 gene

2005 Molecular Genetics and Metabolism
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Splicing Error in E1α Pyruvate Dehydrogenase mRNA Caused by Novel Intronic Mutation Responsible for Lactic Acidosis and Mental Retardation

2003 Journal of Biological Chemistry
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A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene

2003 Annals of Neurology
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Citations (22)