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Your search keyword '"Peripheral nervous system diseases -- Genetic aspects"' showing total 4 results
Start Over Descriptor "Peripheral nervous system diseases -- Genetic aspects"
4 results on '"Peripheral nervous system diseases -- Genetic aspects"'

1. Findings from VIB Center for Inflammation Research in Neuropathy Reported (Sensory Neuropathy-causing Mutations In Atl3 Affect Er-mitochondria Contact Sites and Impair Axonal Mitochondrial Distribution)

Subjects
Genetic aspects, Health aspects, Peripheral nervous system diseases -- Genetic aspects, Gene mutation -- Health aspects, Mitochondria -- Health aspects, Neurons, Obesity, Inflammation, Proteins, Neurodegenerative diseases, Nervous system diseases, Physical fitness
Abstract

2019 MAY 4 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Investigators publish new report on Neuropathy. According to news reporting originating from [...]

Published
2019

2. Giant axonal neuropathy--associated gigaxonin mutations impair intermediate filament protein degradation

Author

Mahammad, Saleemulla, Murthy, S.N. Prasanna, Didonna, Alessandro, Grin, Boris, Israeli, Eitan, Perrot, Rodolphe, Bomont, Pascale, Julien, Jean-Pierre, Kuczmarski, Edward, Opal, Puneet, and Goldman, Robert D.

Subjects
Identification and classification, Genetic aspects, Properties, Axons -- Genetic aspects, Cellular proteins -- Properties, Peripheral nervous system diseases -- Genetic aspects, Gene mutation -- Identification and classification, Gene mutations -- Identification and classification, Peripheral nerve diseases -- Genetic aspects
Abstract

Giant axonal neuropathy (GAN) is an early-onset neurological disorder caused by mutations in the GAN gene (encoding for gigaxonin), which is predicted to be an E3 ligase adaptor. In GAN, [...]

Published
2013
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3. Distributions of p53 codon 72 polymorphism in primary open angle glaucoma. (Clinical Science)

Author

Lin, H.J., Chen, W.C., Tsai, F.J., and Tsai, S.W.

Subjects
Physiological aspects, Genetic aspects, Peripheral nervous system diseases -- Genetic aspects, Genetic polymorphisms -- Physiological aspects -- Genetic aspects, Eye diseases -- Genetic aspects, Open-angle glaucoma -- Genetic aspects, Codons -- Genetic aspects -- Physiological aspects, Codon -- Genetic aspects -- Physiological aspects, Peripheral nerve diseases -- Genetic aspects
Abstract

Background: Glaucomatous neuropathy is a type of cell death by apoptosis. The p53 gene is one of the regulatory genes of apoptosis. Recently, p53 codon 72 polymorphism has been extensively [...]

Published
2002

4. Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. (Letter to JMG)

Author

Varga, R., Kelley, P.M., Keats, B.J., Starr, A., Leal, S.M., Cohn, E., and Kimberling, W.J.

Subjects
Genetic aspects, Peripheral nervous system diseases -- Genetic aspects, Hearing loss -- Genetic aspects, Peripheral nerve diseases -- Genetic aspects
Abstract

It is estimated that about 1 in 500 children are born with a significant hearing loss. (1) Non-syndromic recessive hearing loss (NSRHL) represents a major aetiologic factor in childhood hearing [...]

Published
2003

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