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Updated: Jun 9, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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TRiCのチャペロニン機能障害による脳異常と発作

Florian Kraft1, Piere Rodriguez-Aliaga2, Weimin Yuan3

  • 1Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.

Science (New York, N.Y.)
|October 31, 2024
PubMed
まとめ

TRiC/CCTのタンパク質折りたたみ機構の病原性変異は脳異常,知的障害,発作を引き起こす. この発見は"TRiCopathies"と呼ばれる 新しい神経疾患のスペクトルを示しています

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Assessing Changes in Synaptic Plasticity Using an Awake Closed-Head Injury Model of Mild Traumatic Brain Injury09:49

Assessing Changes in Synaptic Plasticity Using an Awake Closed-Head Injury Model of Mild Traumatic Brain Injury

Published on: January 20, 2023

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A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy10:02

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

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