A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

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A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

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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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name

A de novo dominant mutation in ...... and autism spectrum disorder.

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A de novo dominant mutation in ...... and autism spectrum disorder.

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label

A de novo dominant mutation in ...... and autism spectrum disorder.

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A de novo dominant mutation in ...... and autism spectrum disorder.

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A de novo dominant mutation in ...... and autism spectrum disorder.

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A de novo dominant mutation in ...... and autism spectrum disorder.

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P1476

A de novo dominant mutation in ...... y and autism spectrum disorder

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P2093

Henry Houlden

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Julian C Blake

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Mary M Reilly

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Matilde Laura

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Pedro J Tomaselli

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P2860

The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors

Autism

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Characterization of the movement of the kinesin motor KIF1A in living cultured neurons.

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

Performance comparison of four commercial human whole-exome capture platforms

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

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460-463

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scholarly article

case report

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10.1111/JNS.12235

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Alexander M Rossor

Alejandro Horga

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2017-09-11T00:00:00Z

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28834584

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Autism spectrum

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5763335

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