Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy
2007 · Brain · 145 citations
https://doi.org/10.1093/brain/awm114
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Marianna Bugiani
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Marianna Bugiani is an academic researcher from Amsterdam Neuroscience. The author has contributed to research in topics: Metabolism and Genetic Disorders & Mitochondrial Function and Pathology & RNA regulation and disease. The author has an h-index of 10, co-authored 19 publications.
Papers by this author
worksA focus on the normal-appearing white and gray matter within the multiple sclerosis brain: a link to smoldering progression
2025 · Acta Neuropathologica · 2 citations
https://doi.org/10.1007/s00401-025-02923-1
Astrocyte-specific deletion of LRRC8A causes neurological dysfunction but not chronic white matter edema
2026 · Neurobiology of Disease · 0 citations
https://doi.org/10.1016/j.nbd.2026.107313
Multi-omics investigation of thyroid development and dysfunction in down syndrome
2026 · Human Molecular Genetics · 0 citations
https://doi.org/10.1093/hmg/ddag005
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