Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).

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Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).

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http://www.wikidata.org/entity/Q38895358

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2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

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2015年学术文章

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2015年学术文章

@zh-my

2015年学术文章

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2015年學術文章

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2015年學術文章

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2015年學術文章

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name

Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).

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Item

label

Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).

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prefLabel

Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).

@en

P1476

Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)

@en

P2093

Hiroshi Doi

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

Hiroyuki Yahikozawa

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Kunihiro Yoshida

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

Naomichi Matsumoto

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Norinao Hanyu

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Satoko Miyatake

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P2860

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

Reviewing the genetic causes of spastic-ataxias.

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia.

Emerging roles of mitochondrial proteases in neurodegeneration.

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

Hereditary ataxias: overview.

'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.

P2888

hgv.2015.12

P304

15012

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P31

scholarly article

P356

10.1038/HGV.2015.12

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P478

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

P50

Shunichi Sato

P577

2015-03-26T00:00:00Z

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P5875

277586380

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P698

27081526

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P932

4785587

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