Christel Thauvin-Robinet

C9ORF72 Repeat Expansions in the Frontotemporal Dementias Spectrum of Diseases: A Flow-chart for Genetic Testing

Isabelle Le Ber, Agnès Camuzat, Léna Guillot‐Noël et al. · Journal of Alzheimer s Disease · 2013 · 105 citations

Xq28 duplication including <i><scp>MECP2</scp></i> in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Salima El Chehadeh, Renaud Touraine, Fabienne Prieur et al. · Clinical Genetics · 2016 · 54 citations

Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis

Isabelle Sermet‐Gaudelus, E. Girodon, Delphine Roussel et al. · Thorax · 2010 · 50 citations · Full text

Primary Progressive Aphasia Associated With <i>GRN</i> Mutations

Dario Saracino, Sophie Ferrieux, Marie Noguès-Lassiaille et al. · Neurology · 2021 · 43 citations

Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition

Christel Thauvin-Robinet, Laurence Bonhomme‐Faivre, M. L. Barbier et al. · Journal of Inherited Metabolic Disease · 2004 · 36 citations