New twist defines a spectrum of TOR1A neurological disease.

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New twist defines a spectrum of TOR1A neurological disease.

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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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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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New twist defines a spectrum of TOR1A neurological disease.

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New twist defines a spectrum of TOR1A neurological disease.

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New twist defines a spectrum of TOR1A neurological disease.

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New twist defines a spectrum of TOR1A neurological disease.

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New twist defines a spectrum of TOR1A neurological disease.

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New twist defines a spectrum of TOR1A neurological disease.

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P1476

New twist defines a spectrum of TOR1A neurological disease.

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P2093

Ana Cascalho

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P2860

Genetic background modulates the phenotype of a mouse model of DYT1 dystonia

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

Biallelic TOR1A variants in an infant with severe arthrogryposis.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

P304

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P31

scholarly article

P356

10.1002/MDS.27269

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P407

English

P433

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

P478

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P50

Rose E Goodchild

P577

2017-12-21T00:00:00Z

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P698

29266403

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