Concepedia

Nathalie Escande‐Beillard

NE

15

Publications

806

Citations

14

H-Index

2004

Active since

Affiliations

Agency for Science, Technology and Research(Current)

Institute of Medical Biology

Institute of Molecular and Cell Biology

University of California, Los Angeles

National University of Singapore

Nathalie Escande‐Beillard is an author at Agency for Science, Technology and Research specializing in medicine, cell biology, and social sciences.

ORCID

Top concepts

Publications per year

2004–2022

15

Publications

15

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou et al. · Nature Genetics · 2009 · 252 citations

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Metabolic pathway analyses identify proline biosynthesis pathway as a promoter of liver tumorigenesis

Zhaobing Ding, Russell Ericksen, Nathalie Escande‐Beillard et al. · Journal of Hepatology · 2019 · 133 citations

, , +9

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Björn Fischer‐Zirnsak, Nathalie Escande‐Beillard, Jaya Ganesh et al. · The American Journal of Human Genetics · 2015 · 86 citations · Full text

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Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Sahar Elouej, Karim Harhouri, Morgane Le Mao et al. · Nature Communications · 2020 · 60 citations · Full text

Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2

Nathalie Escande‐Beillard, Abigail Loh, Sahar N. Saleem et al. · Neuron · 2020 · 42 citations · Full text

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