Mitochondrial diseases: advances and issues. - Wikidata - awgldk - TriplyDB

Mitochondrial diseases: advances and issues.

Mitochondrial diseases: advances and issues.

http://www.wikidata.org/entity/Q37653002

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Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.Towards a therapy for mitochondrial disease: an update

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Mitochondrial diseases: advances and issues.

http://www.wikidata.org/entity/Q37653002

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 15 February 2017

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Mitochondrial diseases: advances and issues.

@en

Mitochondrial diseases: advances and issues.

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type

label

Mitochondrial diseases: advances and issues.

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Mitochondrial diseases: advances and issues.

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prefLabel

Mitochondrial diseases: advances and issues.

@en

Mitochondrial diseases: advances and issues.

@nl

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The Application of Clinical Genetics

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Mitochondrial diseases: advances and issues

@en

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Alessandro Padovani

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Alice Todeschini

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Irene Volonghi

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Mauro Scarpelli

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P2860

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure

The future of liver transplantation

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Mitochondrial respiratory-chain diseases

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.

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21-26

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scholarly article

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10.2147/TACG.S94267

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10

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Massimiliano Filosto

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2017-02-15T00:00:00Z

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28243136

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