Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

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Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

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http://www.wikidata.org/entity/Q43691160

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

@wuu

2013年学术文章

@zh

2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

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2013年學術文章

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2013年學術文章

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name

Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

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Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

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type

Item

label

Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

@en

Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

@nl

prefLabel

Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

@en

Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

@nl

P1476

Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

@en

P2093

Alessandra Tessa

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Carlo Casali

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Filippo Maria Santorelli

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Francesca Piccolo

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Francesco Pierelli

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Giovanna Comanducci

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Roberto Di Fabio

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P2860

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

Kinesin light-chain KLC3 expression in testis is restricted to spermatids

Congenital fibrosis syndrome associated with central nervous system abnormalities

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.

The genetic basis of complex strabismus.

P2888

s12311-012-0396-0

P304

140-143

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P31

scholarly article

P356

10.1007/S12311-012-0396-0

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P433

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

P478

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P50

Teresa De Berardinis

Umberto Sabatini

P577

2013-02-01T00:00:00Z

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P698

22699964

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P921

congenital fibrosis of the extraocular muscles

birth defect