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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

Papers overview

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Highly Cited
2012
Highly Cited
2012
Parkinson disease (PD) is a progressive neurodegenerative disorder pathologically characterized by the loss of dopaminergic… Expand
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Highly Cited
2012
Highly Cited
2012
Mutations in ATP13A2 cause autosomal-recessive parkinsonism (Kufor-Rakeb syndrome; KRS). Because several other parkinsonism… Expand
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Review
2012
Review
2012
Several forms of autosomal recessive parkinsonism are known. In three forms, caused by mutations in parkin (PARK2), PINK1 (PARK6… Expand
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Highly Cited
2010
Highly Cited
2010
We report the clinical features of the original Chilean family with Kufor-Rakeb syndrome (KRS) that led to the discovery of the… Expand
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Highly Cited
2010
Highly Cited
2010
Mutations in the ATP13A2 (PARK9) and FBXO7 (PARK15) genes are linked to different forms of autosomal recessive juvenile-onset… Expand
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Highly Cited
2009
Highly Cited
2009
Parkinson's disease (PD), dementia with Lewy bodies and multiple system atrophy, collectively referred to as synucleinopathies… Expand
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Highly Cited
2006
Highly Cited
2006
Neurodegenerative disorders such as Parkinson and Alzheimer disease cause motor and cognitive dysfunction and belong to a… Expand
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Highly Cited
2005
Highly Cited
2005
Kufor Rakeb disease is an autosomal recessive disorder characterized by subacute, juvenile-onset, levodopa-responsive… Expand
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Highly Cited
2003
Highly Cited
2003
Abstract.Four chromosomal loci (PARK2, PARK6, PARK7, and PARK9) associated with autosomal recessive, early onset parkinsonism are… Expand
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Highly Cited
2001
Highly Cited
2001
Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage… Expand
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