Presentation
Manuel, MD, PhD and PU-PH, is a Professor of Paediatrics at the Reference Centre for Inborn Errors of Metabolism at Necker University Hospital. After an undergraduate degree in Biochemistry and a residency in Paediatrics, he completed a PhD in mitochondrial biology, under the supervision of Dr Pierre Rustin at the University of Paris Descartes. He then was a post-doctoral fellow at Dr Jerry Vockley’s laboratory at the University of Pittsburgh, USA.
His clinical research interests include mitochondrial energy metabolism and homocysteine metabolism disorders for which he is a partner in the European collaborative network EHOD. His basic research projects include mitochondrial energy metabolism especially the links between mitochondrial diseases and interferon and the understanding of phenotypic variability in SDHB.
Manuel is a partner of the European ERA PerMed JTC2019 projects PerMiM focusing on personalized medicine in mitochondrial disease coordinated by Dr Holger Prokisch (Helmholtz Zentrum München, Germany). Gene therapy in a mouse model of maple syrup urine disease is the other research project in the setting of DIM (Domaine d’Intérêt Majeur, Ile de France).
Resources & publications
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Journal (source)Cell Death Discov
Kremen1-induced cell death is regulated by homo- and heterodimerization.
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Journal (source)Curr. Opin. Neurobiol.
Cortical developmental death: selected to survive or fated to die.
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Journal (source)Evodevo
Neuronal fate specification by the Dbx1 transcription factor is linked to the...
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Journal (source)Curr. Biol.
Migration Speed of Cajal-Retzius Cells Modulated by Vesicular Trafficking Con...
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Journal (source)PLoS ONE
Dbx1-expressing cells are necessary for the survival of the mammalian anterio...
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Journal (source)PLoS Biol.
A novel role for Dbx1-derived Cajal-Retzius cells in early regionalization of...
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Journal (source)Cell Death Differ.
Kremen1 and Dickkopf1 control cell survival in a Wnt-independent manner.
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Journal (source)bioRxiv
Functional characterization of RELN missense mutations involved in recessive ...
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Journal (source)Development
The multiple facets of Cajal-Retzius neurons.
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Journal (source)Development
Single-cell transcriptomics of the early developing mouse cerebral cortex dis...
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Journal (source)Dev Cell
Repurposing of the multiciliation gene regulatory network in fate specificati...
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Journal (source)Curr Opin Neurobiol
Cajal-retzius cells: Recent advances in identity and function
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Journal (source)J Comp Neurol
Diversity within olfactory sensory derivatives revealed by the contribution o...
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Journal (source)Dev Cell
Repurposing of the multiciliation gene regulatory network in fate specificati...
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Journal (source)Dev Cell
Repurposing of the multiciliation gene regulatory network in fate specificati...
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Journal (source)J Clin Invest
De novo monoallelic Reelin missense variants act in a dominant-negative manne...
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Journal (source)J Clin Invest
De novo monoallelic Reelin missense variants cause dominant neuronal migratio...
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Journal (source)Development
Differential contribution of P73+ Cajal-Retzius cells and Reelin to cortical ...