(Q28198461)

English

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

scientific article (publication date: October 2001)

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

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R H Swerdlow

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G F Wooten

series ordinal

2

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language of work or name

English

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publication date

October 2001

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published in

Annals of Neurology

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volume

50

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issue

4

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page(s)

537-40

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cites work

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

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https://api.crossref.org/works/10.1002%2FANA.1160

retrieved

21 January 2018

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

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https://api.crossref.org/works/10.1002%2FANA.1160

retrieved

21 January 2018

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

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.1160

retrieved

21 January 2018

The syndrome of opticoacoustic nerve atrophy with dementia.

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https://api.crossref.org/works/10.1002%2FANA.1160

retrieved

21 January 2018

Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation

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reference URL

https://api.crossref.org/works/10.1002%2FANA.1160

retrieved

21 January 2018

Human deafness dystonia syndrome is a mitochondrial disease

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https://api.crossref.org/works/10.1002%2FANA.1160

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21 January 2018

The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins

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https://api.crossref.org/works/10.1002%2FANA.1160

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21 January 2018

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

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reference URL

https://api.crossref.org/works/10.1002%2FANA.1160

retrieved

21 January 2018

Mitochondria and dystonia: the movement disorder connection?

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reference URL

https://api.crossref.org/works/10.1002%2FANA.1160

retrieved

21 January 2018

Mitochondrial disorders: clinical and genetic features

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reference URL

https://api.crossref.org/works/10.1002%2FANA.1160

retrieved

21 January 2018

XLMR genes: Update 1998

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reference URL

https://api.crossref.org/works/10.1002%2FANA.1160

retrieved

21 January 2018

Identifiers

DOI

10.1002/ANA.1160

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PubMed publication ID

11601506

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(Q28198461)

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

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