Mutations in TUBB4A and spastic paraplegia.

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TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

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Mutations in TUBB4A and spastic paraplegia.

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2015年学术文章

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Mutations in TUBB4A and spastic paraplegia.

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Mutations in TUBB4A and spastic paraplegia.

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Mutations in TUBB4A and spastic paraplegia.

@en

Mutations in TUBB4A and spastic paraplegia.

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Mutations in TUBB4A and spastic paraplegia.

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Mutations in TUBB4A and spastic paraplegia.

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Mutations in TUBB4A and spastic paraplegia.

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Carolyn M Sue

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

Franca Vulinovic

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Jin-Sung Park

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Katja Lohmann

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Kishore R Kumar

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Susen Schaake

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P2860

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

TUBB4A de novo mutations cause isolated hypomyelination.

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

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1857-1858

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scholarly article

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10.1002/MDS.26444

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English

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Christine Klein

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2015-10-19T00:00:00Z

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26477786

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Mutations in TUBB4A and spastic paraplegia.

about

P2860

P2860

Mutations in TUBB4A and spastic paraplegia.

description

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type

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prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698