Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Katherine Schon

10PUBLICATIONS

47CO-AUTHORS

Neurology and neuromuscular diseasesToxicology (incl. clinical toxicology)Major global burdens of diseaseEpigenetics (incl. genome methylation and epigenomics)Phylogeny and comparative analysis

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (10)

Sort by Publication Date:

|Aug 02, 2024

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Fei Gao, Katherine R Schon, Jana Vandrovcova

|Jun 11, 2024

Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis.

Thiloka E Ratnaike, Nour Elkhateeb, Angela Lochmüller

|Jul 30, 2023

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Lindsay A Wilson, William L Macken, Luke D Perry

|Jul 13, 2023

Multisystem pathology in McLeod syndrome.

Katherine R Schon, Dominic G O'Donovan, Mayen Briggs

|Dec 26, 2022

Reader Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.

Katherine Schon, Patrick Chinnery

|Oct 05, 2022

Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes.

Wei Wei, Katherine R Schon, Greg Elgar

Pageof 2

Frequent Collaborators

6 joint publications

Patrick F Chinnery

3 joint publications

Rita Horvath

2 joint publications

Henry Houlden

1 joint publications

Shamima Rahman

1 joint publications

Greg Elgar

1 joint publications

Marc Tischkowitz

1 joint publications

Mark J Caulfield

1 joint publications

Jelle van den Ameele

1 joint publications

Lindsay A Wilson

1 joint publications

William L Macken

Frequent Collaborators

6 joint publications

Patrick F Chinnery

3 joint publications

Rita Horvath

2 joint publications

Henry Houlden

1 joint publications

Shamima Rahman

Top Related Videos

Visualization of Mitochondrial Respiratory Function using Cytochrome <em>C</em> Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Visualization of Mitochondrial Respiratory Function using Cytochrome <em>C</em> Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Published on : Nov 23, 2011

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function

Published on : Jan 22, 2017

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

See more related videos

Top Related Videos

Visualization of Mitochondrial Respiratory Function using Cytochrome <em>C</em> Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Visualization of Mitochondrial Respiratory Function using Cytochrome <em>C</em> Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Published on : Nov 23, 2011

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function

Published on : Jan 22, 2017

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

See more related videos