(Q56592588)

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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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16411215%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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 (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16411215%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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Luis Augusto Aguirre Pérez

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16411215%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Ignacio del Castillo

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16411215%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Manuela Villamar

5

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15 January 2020

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Alfons Macaya

3

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15 January 2020

Carme Medá

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16411215%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Felipe Moreno

7

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15 January 2020

Miguel A Moreno-Pelayo

6

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15 January 2020

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1 February 2006

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15 January 2020

American Journal of Medical Genetics

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15 January 2020

140

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15 January 2020

4

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15 January 2020

392-397

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16411215%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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

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https://api.crossref.org/works/10.1002%2FAJMG.A.31079

21 January 2018

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10.1002/AJMG.A.31079

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16411215%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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Europe PubMed Central

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15 January 2020

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