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Updated: Jul 14, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Savi Setia1, Aakash Mahesan2, Puneet Kumar Chaudhary3

  • 1Department of Pediatrics, Child Neurology Division, All India Institute of Medical Sciences, Bathinda, Punjab, India.

Indian journal of pediatrics
|February 19, 2026
PubMed
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No abstract available in PubMed .

キーワード:
PLA2G6関連神経変性症非定型神経軸索ジストロフィージストニア・パーキンソニズム乳児神経軸索ジストロフィー脳内鉄沈着神経変性症

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Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...