Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)

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Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)

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http://www.wikidata.org/entity/Q42795465

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

Clinical and imaging character ...... iated neurodegeneration (MPAN)

@en

Clinical and imaging character ...... n-associated neurodegeneration

@nl

type

Item

label

Clinical and imaging character ...... iated neurodegeneration (MPAN)

@en

Clinical and imaging character ...... n-associated neurodegeneration

@nl

prefLabel

Clinical and imaging character ...... iated neurodegeneration (MPAN)

@en

Clinical and imaging character ...... n-associated neurodegeneration

@nl

P1476

Clinical and imaging character ...... iated neurodegeneration (MPAN)

@en

P2093

Alan J Lerner

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Brian S Appleby

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Ethan Gore

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James B Leverenz

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Mark L Cohen

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Sandra L Siedlak

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Suzanne D DeBrosse

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P2860

Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

Hereditary neurological disease with acanthocytosis. A new syndrome

Behr syndrome with homozygous C19ORF12 mutation

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.

A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma.

Mitochondrial membrane protein-associated neurodegeneration (MPAN).

Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.

P304

476-483

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P31

scholarly article

P356

10.1080/13554794.2016.1247458

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P433

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P478

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P50

Bruce L. Miller

Xiongwei Zhu

P577

2016-11-01T00:00:00Z

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P698

27801611

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P932

5568540

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