Journal of Translational Genetics and Genomics

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9 result(s) for ‘mitochondrial disease’

Open Access Review

Mitochondrial diseases: expanding the diagnosis in the era of genetic testing

Russell P. Saneto

J Transl Genet Genom 2020;4:384-428.

DOI: 10.20517/jtgg.2020.40

Available online: 29 Sep 2020 Viewed: 8202 Downloaded: 1101

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Open Access Review

Spectrum of movement disorders in mitochondrial diseases

Olimpia Musumeci, ... Antonio Toscano

This article belongs to the Special Issue Diagnosis and Treatment of Mitochondrial Disease

J Transl Genet Genom 2020;4:221-37.

DOI: 10.20517/jtgg.2020.22

Available online: 24 Jun 2020 Viewed: 4570 Downloaded: 667

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Open Access Review

New diagnostic pathways for mitochondrial disease

Eloise Watson, ... Carolyn M. Sue

This article belongs to the Special Issue Diagnosis and Treatment of Mitochondrial Disease

J Transl Genet Genom 2020;4:188-202.

DOI: 10.20517/jtgg.2020.31

Available online: 18 Jun 2020 Viewed: 4194 Downloaded: 993

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Open Access Review

Advancement in the diagnosis of mitochondrial diseases

Siti Aishah Sulaiman, ... Nor Azian Abdul Murad

This article belongs to the Special Issue Diagnosis and Treatment of Mitochondrial Disease

J Transl Genet Genom 2020;4:159-87.

DOI: 10.20517/jtgg.2020.27

Available online: 18 Jun 2020 Viewed: 7821 Downloaded: 945

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Open Access Review

Mitochondrial translation defects and human disease

Bryn D. Webb, ... Pankaj Prasun

J Transl Genet Genom 2020;4:71-80.

DOI: 10.20517/jtgg.2020.11

Available online: 23 May 2020 Viewed: 2838 Downloaded: 550

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Open Access Original Article

The North American mitochondrial disease registry

Xiomara Q. Rosales, ... The North American Mitochondrial Disease Consortium

J Transl Genet Genom 2020;4:81-90.

DOI: 10.20517/jtgg.2020.12

Available online: 28 Apr 2020 Viewed: 2984 Downloaded: 540

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Open Access Review

Cryogenic electron paramagnetic resonance spectroscopy of flash-frozen tissue for characterization of mitochondrial disease

Brian Bennett

This article belongs to the Special Issue Diagnosis and Treatment of Mitochondrial Disease

J Transl Genet Genom 2020;4:36-49.

DOI: 10.20517/jtgg.2020.17

Available online: 23 Apr 2020 Viewed: 1510 Downloaded: 483

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Open Access Review

Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment

Bridget E. Bax

J Transl Genet Genom 2020;4:1-16.

DOI: 10.20517/jtgg.2020.08

Available online: 30 Mar 2020 Viewed: 4998 Downloaded: 782

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Open Access Review

MERRF and MELAS: current gene therapy trends and approaches

Ciara Ann Agresti, ... Peter Tolias

This article belongs to the Special Issue Personalized Genomic Medicine: Challenges and Opportunities for the Diagnosis and the Treatment of Human Disease

J Transl Genet Genom 2018;2:9.

DOI: 10.20517/jtgg.2018.05

Published on: 3 Jul 2018 Viewed: 8476 Downloaded: 744

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Hot Keywords

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Mitochondrial diseases: expanding the diagnosis in the era of genetic testing

Spectrum of movement disorders in mitochondrial diseases

New diagnostic pathways for mitochondrial disease

Advancement in the diagnosis of mitochondrial diseases

Mitochondrial translation defects and human disease

The North American mitochondrial disease registry

Cryogenic electron paramagnetic resonance spectroscopy of flash-frozen tissue for characterization of mitochondrial disease

Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment

MERRF and MELAS: current gene therapy trends and approaches

JOURNAL OF TRANSLATIONAL GENETICS AND GENOMICS

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