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neuroaxonal dystrophy
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Body Atlas
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Cerebellum peduncles
Globus pallidus
Cingulate cortex
Ciliary ganglion
Skeletal muscle psoas
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Muscle finding
Whipple's disease
Obsessive-compulsive disorder
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2-dichlorobenzene
N-nitrosomorpholine
4-dichlorobenzene
leptomycin B
sodium chlorate
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SPOP
MYEOV
CELF2
SCML2
Ptger4
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Literature
Most Relevant Literature
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.
Endothelial tip/stalk cell selection requires BMP9-induced βIV-spectrin expression during sprouting …
A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellec…
Nodal Dynamics after In Vivo Rescue of βIV Spectrin Expression.
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal …
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Desipramine in Infantile Neuroaxonal Dystrophy (INAD).
Natural History of Infantile Neuroaxonal Dystrophy
A Natural History Study of Infantile Neuroaxonal Dystrophy
A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy
Phenotypic Description of Patients With Atypical Clinical Forms of PLA2G6 Mutations
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