Ines Leca

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Ratna Tripathy, Ines Leca, Tessa van Dijk et al. · Neuron · 2018 · 62 citations · Full text

Cortical Malformations, Genetics, Neuropathology +3

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

Thomas Gstrein, Andrew Edwards, Anna Přistoupilová et al. · Nature Neuroscience · 2018 · 46 citations · Full text

Molecular Neuroscience, Developmental Biology, Brain Development +10

Biallelic <i>PAX5</i> mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder

Fabian Kaiser, Sarah Gruenbacher, Maria Roa Oyaga et al. · The Journal of Experimental Medicine · 2022 · 29 citations · Full text

Brain Development, Genetics, Pathology +21

Uner Tan syndrome caused by a homozygous<i>TUBB2B</i>mutation affecting microtubule stability

Martin W. Breuss, Thai B. Nguyen, Anjana Srivatsan et al. · Human Molecular Genetics · 2016 · 16 citations · Full text

Developmental Biology, Molecular Neuroscience, Mendelian Disorder +15

A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse

Ines Leca, Alexander William Phillips, Iris Hofer et al. · PLoS Genetics · 2020 · 10 citations · Full text

Recurrent Mutation, Proteomic Survey, Proteasome +19