Clinical and genetic characterization of AP4B1-associated SPG47.

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Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A

P2860

Q52308816-BC627293-8654-4841-87AC-B48F699A0366 Q59129058-395F24EB-000D-43CF-B98C-F251684E6AE6

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Clinical and genetic characterization of AP4B1-associated SPG47.

Item

http://www.wikidata.org/entity/Q52421616

description

2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

@zh-hant

name

Clinical and genetic characterization of AP4B1-associated SPG47.

@en

Clinical and genetic characterization of AP4B1-associated SPG47.

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type

Item

label

Clinical and genetic characterization of AP4B1-associated SPG47.

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Clinical and genetic characterization of AP4B1-associated SPG47.

@nl

prefLabel

Clinical and genetic characterization of AP4B1-associated SPG47.

@en

Clinical and genetic characterization of AP4B1-associated SPG47.

@nl

P1476

Clinical and genetic characterization of AP4B1-associated SPG47

@en

P2093

Amelia Diplock

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

Brendan C Lanpher

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

Chi Cheng

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

Conor S Ryan

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CureSPG47

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Danielle B Pier

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

Elisabeth Rosser

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Jennifer Hirst

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

Kira Dies

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

Wendy K Chung

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

P2860

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia

A general framework for estimating the relative pathogenicity of human genetic variants

Adaptor proteins involved in polarized sorting

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

P304

311-318

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scholarly article

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10.1002/AJMG.A.38561

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English

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P478

176

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Mustafa Sahin

Darius Ebrahimi-Fakhari

Basil T Darras

James T Bennett

P577

2017-11-28T00:00:00Z

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P698

29193663

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Clinical and genetic characterization of AP4B1-associated SPG47.

about

P2860

P2860

Clinical and genetic characterization of AP4B1-associated SPG47.

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P698