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Unraveling neuronal and metabolic alterations in neurofibromatosis type 1

31 Aug 2024

Abstract excerpt

Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology, yet gaps persist in...

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PMID: 39217323
DOI: 10.1186/s11689-024-09565-6

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