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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… 
National Institutes of Health

Related topics

Related topics

14 relations
Abnormal pyramidal signsAtaxiaAutosomal recessive inheritanceCentral Nervous System

Broader (1)

Neuroaxonal Dystrophies

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2008
Review
2008
Mouse genetic models: an ideal system for understanding glaucomatous neurodegeneration and neuroprotection.
2007
2007
FUTURE COMMUNICATION STUDY - ACTION PLAN 17 FINAL CONCLUSIONS AND RECOMMENDATIONS REPORT
This paper provides a summary of the final report out of the joint activities of FAA and EUROCONTROL to investigate the future… 
2004
2004
Infantile neuroaxonal dystrophy and pantothenate kinase-associated neurodegeneration
Common clinical, radiologic, and pathologic features in infantile neuroaxonal dystrophy (INAD) and pantothenate kinase-associated… 
Highly Cited
2000
Highly Cited
2000
Reversible Phosphorylation of the Signal Transduction Complex in Drosophila Photoreceptors*
In the Drosophila visual cascade, the transient receptor potential (TRP) calcium channel, phospholipase Cβ (no-receptor-potential… 
Review
1996
Review
1996
Antibacterial Chemotherapeutants for Finfish Aquaculture: A Synopsis of Laboratory and Field Efficacy and Safety Studies
Abstract This review summarizes the extensive and disparate world literature pertaining to antibacterial chemotherapeutants which… 
Review
1989
Review
1989
Using the patient's plan to assess progress in psychotherapy.
The value of adopting a case-specific approach to studies of psychotherapy has been noted in numerous recent reviews. However… 
1980
1980
Rectal biopsy findings in infantile neuroaxonal dystrophy.
A 21-month-old boy with a family history of parental consanguinity and two siblings having died of a progressive neurological… 
1978
1978
Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy.
Conjunctival biopsy and ultrastructural examination of conjunctival nerves, showing the presence of spheroids within axons, led… 
1978
1978
Juvenile neuroaxonal dystrophy: Clinical, electrophysiological, and neuropathological features
We describe 2 brothers with progressive myoclonus epilepsy that began in the second decade and was associated with cerebellar… 
Highly Cited
1970
Highly Cited
1970
Peripheral nerve biopsy as an aid to diagnosis in infantile neuroaxonal dystrophy
SUMMARYThe clinical manifestations in infantile neuroaxonal dystrophy are sufficiently characteristic to allow a presumptive… 
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