The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
about
Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes.The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati SyndromeSUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.Spiral ganglion deficiency in adult-onset deafness-dystonia syndrome.Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation.Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.X-Linked Sensorineural Hearing Loss: A Literature Review
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P2860
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年學術文章
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name
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
@en
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
@nl
type
label
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
@en
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
@nl
prefLabel
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
@en
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
@nl
P2093
P2860
P50
P356
P1433
P1476
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
@en
P2093
Anas M Alazami
Francesco Brancati
Georgia Xiromerisiou
Ignacio Rubio-Agusti
Isabel Pareés
Jaroslaw Slawek
Karolina Pienczk-Reclawowicz
Maja Kojovic
Milica Kramberger
Miryam Carecchio
P2860
P304
P356
10.1002/MDS.25394
P407
P577
2013-02-15T00:00:00Z