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期刊名:Journal of neurogenetics

缩写:J NEUROGENET

ISSN:0167-7063

e-ISSN:1563-5260

IF/分区:2.0/Q3

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Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
Mehrnaz Afkhami Mehrnaz Afkhami
Egg-laying is one of the key aspects of female reproductive behavior in insects. Egg-laying has been studied since the dawn of Drosophila melanogaster as a model organism. The female's internal state, hormones, and external factors, such as...
Mina Lashkarboloki,Amin Jahanbakhshi,Seyed Javad Mowla et al. Mina Lashkarboloki et al.
Glioblastoma multiforme (GBM) is an aggressive and diffuse type of glioma with the lowest survival rate in patients. The recent failure of multiple treatments suggests that targeting several targets at once may be a different strategy to ov...
Jasmine Policherla,Fatema J Serajee,Salman Rashid et al. Jasmine Policherla et al.
Pyruvate Dehydrogenase (PDH) E2 deficiency due to Dihydrolipoamide acetyltransferase (DLAT) mutations is a very rare condition with only nine reported cases to date. We describe a 15-year-old girl with mild intellectual disability, paroxysm...
Annabelle Arlt,Esra Akova-Öztürk,Anja Schirmacher et al. Annabelle Arlt et al.
Pathogenic, biallelic variants in SORD were identified in 2020 as a novel cause for autosomal-recessive Charcot-Marie-Tooth disease (CMT) type 2, an inherited neuropathy. SORD codes for the enzyme sorbitol dehydrogenase. Loss of this enzyme...
Shivani Sharma,Anita Mahadevan,Gayathri Narayanappa et al. Shivani Sharma et al.
Tropical ataxic neuropathy (TAN) is characterised by ataxic polyneuropathy, degeneration of the posterior columns and pyramidal tracts, optic atrophy, and sensorineural hearing loss. It has been attributed to nutritional/toxic etiologies, b...
Paulo A Ferreira Paulo A Ferreira
The neurogenetics and vision community recently mourned William L. Pak, PhD, whose pioneering work spearheaded the genetic, electrophysiological, and molecular bases of biological processes underpinning vision. This essay provides a histori...