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Francesco Mari

Neuroscience Department, Pediatric Neurology Unit · AOU A Meyer, Florence, Italy

https://researchid.co/fmari74
@meyer.it
50Scopus Publications

Research Interests

Pediatric Neurology Epilepsy Sleep Disorders Headache

Recent Scopus Publications

  1. Neurodevelopmental disorders in childhood-onset hereditary spastic paraplegia type 7: a case series and review of literature
    Neurological Sciences, 2026
  2. Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector
    Stem Cell Research, 2024
  3. Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
    American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2024
  4. Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector
    Stem Cell Research, 2023
  5. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
    American Journal of Human Genetics, 2023

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