Daniel Medina-Cano

Most-cited papers

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

   J. Chemin, Karine Siquier-Pernet, M. Nicouleau, G. Barcia +25 more

   2018Brain : a journal of neurology89 citations Open access

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

   E. Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano +27 more

   2020Nature Communications56 citations Open access

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

   Daniel Medina-Cano, E. Ucuncu, L. Nguyen, M. Nicouleau +9 more

   2018eLife50 citations Open access

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

   H. Megahed, M. Nicouleau, G. Barcia, Daniel Medina-Cano +12 more

   2016Orphanet Journal of Rare Diseases39 citations Open access

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

   M. Cavallin, M. Rujano, N. Bednarek, Daniel Medina-Cano +30 more

   2017Brain : a journal of neurology32 citations Open access

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6. Rapid and robust directed differentiation of mouse epiblast stem cells into definitive endoderm and forebrain organoids

   Daniel Medina-Cano, Emily K. Corrigan, R. Glenn, Mohammed T. Islam +4 more

   2021bioRxiv22 citations Open access

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7. La informalidad del comercio en México; retos para la 4T, respecto de la evasión fiscal

   José Luis Chávez Chávez, Daniel Medina-Cano

   2022INCEPTUM1 citations Open access

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

   E. Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano +26 more

   2020bioRxiv0 citations Open access

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9. Study of the molecular bases underlying cerebellar defects with emphasis on protein N-glycosylation impairment. (Bases moléculaires des anomalies cérébelleuses congénitales et modélisation de la déficience en N-glycosylation des protéines)

   Daniel Medina-Cano

   20180 citations Open access

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10. Author response: High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

    Daniel Medina-Cano, E. Ucuncu, L. Nguyen, M. Nicouleau +9 more

    20180 citations Open access

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11. WDR81 mutations cause microlissencephaly and microcephaly and impair mitotic progression in neural progenitors

    M. Cavallin, M. Rujano, N. Bednarek, Daniel Medina-Cano +12 more

    20170 citations

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