Infantile Neuroaxonal Dystrophy

Known as: Neurodegeneration, PLA2G6 Associated, Disease, Seitelberger's, Seitelberger Disease 
A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings… (More)
National Institutes of Health

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2014
2014
Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the… (More)
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Highly Cited
2008
Highly Cited
2008
Mutations in the PLA2G6 gene, which encodes group VIA calcium-independent phospholipase A2 (iPLA(2)beta), were recently… (More)
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Highly Cited
2006
Highly Cited
2006
Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the… (More)
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1991
1991
In order to clarify the pathogenesis of infantile neuroaxonal dystrophy, ultrastructural studies of the terminal and nonterminal… (More)
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1989
1989
A 6-year-old boy with the typical clinical features of infantile neuroaxonal dystrophy was examined with magnetic resonance… (More)
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1985
1985
We present a cliniconeuropathologic study of infantile neuroaxonal dystrophy (INAD) in a 5-year-old Black girl with albinism. The… (More)
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1977
1977
Three patients with infantile neuroaxonal dystrophy (INAD, Seitelberger's disease) studied between ages 2 and 5 years, with the… (More)
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1970
1970
A 21/2 year old girl who, since the age of 1 year presented, a progressive psychomotor retardation. A cortical biopsy appeared… (More)
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1965
1965
An autopsy case of 4 2/3 year-old male child with the typical features of infantile neuroaxonal dystrophy was described. His… (More)
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1963
1963
Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal… (More)
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