SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

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Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease Genetic and phenotypic characterization of complex hereditary spastic paraplegia

P2860

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P2860

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

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http://www.wikidata.org/entity/Q44552163

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

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SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

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SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

@en

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

@nl

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SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

@en

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

@nl

P1476

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

@en

P2093

Martial Mallaret

http://www.w3.org/2001/XMLSchema#string

Ouhaid Lagha-Boukbiza

http://www.w3.org/2001/XMLSchema#string

Saskia Biskup

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P2860

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish.

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

P2888

s00415-013-7216-4

P304

435-437

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P31

scholarly article

P356

10.1007/S00415-013-7216-4

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P433

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P478

261

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P577

2013-12-24T00:00:00Z

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259456492

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P698

24366652

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P921

Parkinson's disease

levodopa

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

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P2860

P2860

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921