Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

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Tetrahydrobiopterin in antenatal brain hypoxia-ischemia-induced motor impairments and cerebral palsy.Rare GCH1 heterozygous variants contributing to Parkinson's disease.

P2860

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P2860

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

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Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

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Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

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Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

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Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

@ast

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

@en

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

@nl

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Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

@ast

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

@en

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

@nl

P1476

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

@en

P2093

Bei-sha Tang

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

Han-lin Zhou

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Ji-feng Guo

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Jia-da Li

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Jin-yong Tian

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Jun-pu Mei

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Kun Xia

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Li-ping Guan

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Qi-ying Sun

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Xin-xiang Yan

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P2860

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia

The diagnosis of dystonia

Lessons from a remarkable family with dopa-responsive dystonia.

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.

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e106388

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scholarly article

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10.1371/JOURNAL.PONE.0106388

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English

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P478

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2014-01-01T00:00:00Z

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265256774

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25181484

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P932

4152247

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Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

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P2860

P2860

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P5875

P698

P932