(Q38021965)

27 August 2017

title

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome (English)

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27 August 2017

Ainhi D Ha

1

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27 August 2017

Kaitlyn L Parratt

2

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27 August 2017

Nanna D Rendtorff

3

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27 August 2017

Marianne Lodahl

4

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27 August 2017

Karl Ng

5

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27 August 2017

Dominic B Rowe

6

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27 August 2017

Carolyn M Sue

7

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27 August 2017

Michael W Hayes

8

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27 August 2017

Lisbeth Tranebjaerg

9

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27 August 2017

Victor S C Fung

10

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27 August 2017

language of work or name

English

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publication date

26 June 2012

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27 August 2017

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27 August 2017

volume

27

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27 August 2017

issue

8

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27 August 2017

page(s)

1034-1040

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A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22

27 August 2017

cites work

1 reference

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

21 January 2018

1 reference

A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.

21 January 2018

1 reference

X-linked Dystonia-Deafness syndrome

21 January 2018

1 reference

A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

21 January 2018

1 reference

Secondary dystonia--clinical clues and syndromic associations

21 January 2018

1 reference

A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome

21 January 2018

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A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene

21 January 2018

1 reference

A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.

21 January 2018

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Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene

21 January 2018

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A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome

21 January 2018

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Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene

21 January 2018

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Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene

21 January 2018

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Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene

21 January 2018

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Dystonia in the Woodhouse Sakati syndrome: A new family and literature review

21 January 2018

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Mitochondrial DNA disorders

21 January 2018

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Otopathology in Mohr-Tranebjaerg syndrome

21 January 2018

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Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.

21 January 2018

1 reference

Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome

21 January 2018

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Myoclonus-dystonia: significance of large SGCE deletions

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.25033

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27 August 2017

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