Journal of Translational Genetics and Genomics

Topic: Diagnosis and Treatment of Mitochondrial Disease

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A special issue of Journal of Translational Genetics and Genomics

ISSN 2578-5281 (Online)

Submission deadline: 31 Mar 2020

Guest Editor(s)

Prof. Andrea L. Gropman

Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Medical Center, 111 Michigan Avenue, N.W. Washington, D.C. USA.

Website | E-mail

Submission Deadline

31 Mar 2020

Submission Information

Articles of special issue are free of charge for article processing.
For Author Instructions, please refer to http://jtggjournal.com/pages/view/author_instructions
For Online Submission, please login at https://oaemesas.com/login?JournalId=jtgg&SpecialIssueId=348
Submission Deadline: 31 Mar 2020
Contacts: Jixiang Zhao, Assistant Editor, jixiang.zhao@jtggjournal.com

Published Articles

Open Access Editorial

Mitochondrial medicine: the future is now

Andrea L. Gropman

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

J Transl Genet Genom 2021;5:62-3.

DOI: 10.20517/jtgg.2020.54

Available online: 2 Jan 2021 Viewed: 749 Downloaded: 168

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Open Access Review

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

Russell P. Saneto

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

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

DOI: 10.20517/jtgg.2020.40

Available online: 29 Sep 2020 Viewed: 4532 Downloaded: 619

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Open Access Review

Riboflavin metabolism: role in mitochondrial function

Shanti Balasubramaniam, Joy Yaplito-Lee

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

J Transl Genet Genom 2020;4:285-306.

DOI: 10.20517/jtgg.2020.34

Available online: 7 Aug 2020 Viewed: 6273 Downloaded: 479

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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: 2572 Downloaded: 402

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Open Access Review

Advancement in the diagnosis of mitochondrial diseases

Siti Aishah Sulaiman, ... Nor Azian Abdul Murad

video

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: 4739 Downloaded: 515

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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: 2144 Downloaded: 582

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Open Access Review

Mitochondrial translation defects and human disease

Bryn D. Webb, ... Pankaj Prasun

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

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

DOI: 10.20517/jtgg.2020.11

Available online: 23 May 2020 Viewed: 1904 Downloaded: 360

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Open Access Original Article

The North American mitochondrial disease registry

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

video

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

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

DOI: 10.20517/jtgg.2020.12

Available online: 28 Apr 2020 Viewed: 1765 Downloaded: 368

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Open Access Review

Redefining infantile-onset multisystem phenotypes of coenzyme Q₁₀-deficiency in the next-generation sequencing era

Andres Berardo, Catarina M. Quinzii

video

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

J Transl Genet Genom 2020;4:22-35.

DOI: 10.20517/jtgg.2020.02

Available online: 23 Apr 2020 Viewed: 1366 Downloaded: 366

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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: 916 Downloaded: 326

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Open Access Review

Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment

Bridget E. Bax

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

J Transl Genet Genom 2020;4:1-6.

DOI: 10.20517/jtgg.2020.08

Available online: 30 Mar 2020 Viewed: 3504 Downloaded: 527

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Published Articles

JOURNAL OF TRANSLATIONAL GENETICS AND GENOMICS

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