Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts

scientific article published on 25 June 2012

Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.NEULET.2012.06.036
P932PMC publication ID3619445
P698PubMed publication ID22743658

P50authorAndrew John LeesQ4757729
John Anthony HardyQ6237755
Kailash Phatechand BhatiaQ42862244
P2093author name stringHenry Houlden
Eleanna Kara
Reema Paudel
Michael C Kruer
Susan J Hayflick
Tom Foltynie
Allison Gregory
Wendy Wagoner
Lynn Sanford
P2860cites workHereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPaseQ28116395
Catalytic Function of PLA2G6 Is Impaired by Mutations Associated with Infantile Neuroaxonal Dystrophy but Not Dystonia-ParkinsonismQ33707768
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson diseaseQ34626200
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndromeQ34726815
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosisQ35997567
ATP13A2 variability in Parkinson disease.Q37114401
Rare causes of dystonia parkinsonismQ37778764
Neuroimaging features of neurodegeneration with brain iron accumulation.Q37932848
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotypeQ42829964
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutationsQ42947297
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulationQ43121326
ATP13A2 variants in early-onset Parkinson's disease patients and controlsQ44289614
ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation.Q54598452
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.Q54608818
PARK9-LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPEQ56772080
Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutationQ83402108
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectneurodegeneration with brain iron accumulationQ16892735
P1104number of pages4
P304page(s)35-38
P577publication date2012-06-25
P1433published inNeuroscience LettersQ7002625
P1476titleAnalysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts
P478volume523

Reverse relations

cites work (P2860)
Q37605018Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunities
Q35994344Calcium-independent phospholipases A2 and their roles in biological processes and diseases.
Q38065116Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).
Q38118885Iron metabolism in the CNS: implications for neurodegenerative diseases
Q57695614Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea

Search more.