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Article

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

Journal of neuropathology and experimental neurology - 1 Mar 2017

Laquerriere Annie, Maillard Camille, Cavallin Mara, Chapon Françoise, Marguet Florent, Molin Arnaud, Sigaudy Sabine, Blouet Marie, Benoist Guillaume, Fernandez Carla, Poirier Karine, Chelly Jamel, Thomas Sophie, Bahi-Buisson Nadia

Abstract excerpt

Dyneins play a critical role in a wide variety of cellular functions such as the movement of organelles and numerous aspects of mitosis, making it central player in neocortical neurogenesis and migration. Recently, cytoplasmic dynein-1, heavy chain-1 (DYNC1H1) mutations have been found to cause a wide spectrum of brain cortical malformations. We report on the detailed neuropathological features of brain lesions...

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PMID: 28395088
DOI: 10.1093/jnen/nlw124

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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