Céline Dupuits

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

Suzanne Lesage, Mathieu Anheim, Christel Condroyer et al. · Human Molecular Genetics · 2010 · 274 citations

Genetics, Genetic Epidemiology, Pathology +16

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Christel Depienne, Marianna Bugiani, Céline Dupuits et al. · The Lancet Neurology · 2013 · 181 citations · Full text

Neurobiology Of Disease, Neurophysiology, Neuroanatomy +8

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

Caroline Nava, Foudil Lamari, Delphine Héron et al. · Translational Psychiatry · 2012 · 109 citations · Full text

Autism Spectrum Disorders, Genetics, Pathology +21

Genetic Analysis of Inherited Leukodystrophies

Rita Guerreiro, Eleanna Kara, Isabelle Le Ber et al. · JAMA Neurology · 2013 · 92 citations · Full text

Reversible Lactic Acidosis in a Newborn With Thiamine Transporter-2 Deficiency

Belén Pérez‐Dueñas, Mercedes Serrano, Mónica Rebollo et al. · PEDIATRICS · 2013 · 78 citations

Neurodegenerative Diseases, Neurobiology Of Disease, Reversible Lactic Acidosis +15