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

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Calcium-independent phospholipases A2 and their roles in biological processes and diseases.Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunities Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).

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

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2012 nî lūn-bûn

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2012年の論文

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2012年論文

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Analysis of ATP13A2 in large n ...... dystonia-parkinsonism cohorts.

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Analysis of ATP13A2 in large n ...... dystonia-parkinsonism cohorts.

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Analysis of ATP13A2 in large n ...... dystonia-parkinsonism cohorts.

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P1476

Analysis of ATP13A2 in large n ...... dystonia-parkinsonism cohorts.

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P2093

Allison Gregory

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Eleanna Kara

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Henry Houlden

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Lynn Sanford

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Michael C Kruer

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Reema Paudel

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Susan J Hayflick

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Tom Foltynie

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Wendy Wagoner

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P2860

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

ATP13A2 variability in Parkinson disease.

Rare causes of dystonia parkinsonism.

Neuroimaging features of neurodegeneration with brain iron accumulation.

Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.

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35-38

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scholarly article

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10.1016/J.NEULET.2012.06.036

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English

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523

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Kailash Phatechand Bhatia

Andrew John Lees

John Anthony Hardy

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2012-06-25T00:00:00Z

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22743658

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neurodegeneration with brain iron accumulation

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3619445

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

about

P2860

P2860

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

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