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KUFOR-RAKEB SYNDROME

Known as: PARK9, PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET, PALLIDOPYRAMIDAL DEGENERATION WITH SUPRANUCLEAR UPGAZE PARESIS AND DEMENTIA 
National Institutes of Health

Related topics

Related topics

22 relations
ATP13A2 geneATP13A2, 2-BP DEL, 2742TTAbnormal pyramidal signsAbnormality of extrapyramidal motor function

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease
2017
2017
Loss-of-function mutations in the ATP 13 A 2 / PARK 9 gene cause complicated hereditary spastic paraplegia ( SPG 78 )
PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova… 
2017
2017
Eye movements in genetic parkinsonisms affecting the α-synuclein, PARK9, and manganese network
2014
2014
Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family
During the past few years, several Mendelian forms of human parkinsonism have been identified [1]. As regards autosomal recessive… 
2014
2014
Interaction of Cu(II) and Ni(II) with Ypk9 Protein Fragment via NMR Studies
P1D2E3K4H5E6L7 (PK9-H), a fragment of Ypk9, the yeast homologue of the human Park9 protein, was studied for its coordination… 
2012
2012
Binding of rhodamine B and kiton red S to cucurbit[7]uril: density functional investigations
AbstractThe binding of the laser dyes rhodamine B (RhB) and sulforhodamine B (kiton red S or KRS) to a cucurbit[7]uril (CB[7… 
2011
2011
Using COTS-Widgets Architectures for Describing User Interfaces of Web-Based Information Systems
Modern Web-based Information Systems (WIS) must be flexible and prepared to be easily accessible and manageable in real-time. WIS… 
2008
2008
A simple helical macrocyclic polyazapyridinophane as a stereoselective receptor of biologically important dicarboxylates under physiological conditions.
The interaction of a synthetic enantiopure azamacrocyclic receptor (L) with biologically important chiral dicarboxylates (A, 1-7… 
2007
2007
Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation
In this issue of Neurology , Di Fonzo and colleagues describe the identification of a Brazilian patient with juvenile… 
2006
2006
Rapid, room-temperature acylative kinetic resolution of sec-alcohols using atropisomeric 4-aminopyridine/ triphenylphosphine catalysis
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