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WDR45 gene

Known as: WDR45, WIPI4, JM5 
National Institutes of Health

Related topics

Related topics

3 relations

Broader (1)

Genes
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Is WDR45 the missing link for ER stress-induced autophagy in beta-propeller associated neurodegeneration?
ABSTRACT Beta-propeller protein-associated neurodegeneration (BPAN) is caused by mutations in the autophagy gene WDR45/WIPI4. In… 
2019
2019
Syndrome parkinsonien et retard mental : il fallait le fer
2017
2017
Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
2017
2017
Five cases with mutation of WDR45
2016
2016
Severe infantile male encephalopathy is a result of early post‐zygotic WDR45 somatic mutation
Beta-propeller protein-associated neurodegeneration (BPAN, MIM#300894) was identified by recent studies as a novel X-linked… 
2016
2016
Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.
2014
2014
A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)
Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is an X‐linked dominant neurodegenerative disorder… 
Review
2014
Review
2014
Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.
2013
2013
Progressive ataxia associated with scarring skin lesions and vertical gaze palsy
Xeroderma pigmentosum (XP) is a rare autosomal-recessive disease (prevalence of 1:200,000 in whites) characterized by… 
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