Daniel Medina-Cano

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau et al. · Brain · 2018 · 104 citations · Full text

Neurodevelopmental Disorders, Channelopathies, Cerebellar Atrophy +15

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson et al. · Nature Communications · 2020 · 60 citations · Full text

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

Mara Cavallin, Maria A. Rujano, Nathalie Bednarek et al. · Brain · 2017 · 58 citations · Full text

Brain Development, Neurological Disorder, Genetics +24

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

Daniel Medina-Cano, Ekin Ucuncu, Lam Son Nguyen et al. · eLife · 2018 · 58 citations · Full text

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Hisham Megahed, Michaël Nicouleau, Giulia Barcia et al. · Orphanet Journal of Rare Diseases · 2016 · 42 citations · Full text