Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Shamima Rahman

39PUBLICATIONS
137CO-AUTHORS
Medical mycologyGastroenterology and hepatologyPacific Peoples midwifery and paediatricsPharmacogenomicsMedical devices
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (39)

Sort by Publication Date:
|Apr 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

|Nov 15, 2025
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.

Erle Kristensen, Karin Naess, Martin Engvall

|Oct 25, 2025
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.

Anja Lee, Yngve Thomas Bliksrud, Michela Onali

|Aug 01, 2025
Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

Fangfang Zhang, Tatjana Dorn, Barbara Gnutti

|Jun 13, 2025
First in Human Gene Editing for an Inherited Metabolic Disease.

Shamima Rahman, Julien Baruteau

|Feb 26, 2025
Rare disease gene association discovery in the 100,000 Genomes Project.

Valentina Cipriani, Letizia Vestito, Emma F Magavern

Pageof 7

Frequent Collaborators

4 joint publications

Nandaki Keshavan

3 joint publications

Rita Horvath

3 joint publications

Patrick F Chinnery

3 joint publications

Henry Houlden

3 joint publications

Alistair T Pagnamenta

3 joint publications

Mark J Caulfield

3 joint publications

Wei Wei

3 joint publications

Omar Hikmat

3 joint publications

Carl Fratter

2 joint publications

Robert D S Pitceathly

Frequent Collaborators

4 joint publications

Nandaki Keshavan

3 joint publications

Rita Horvath

3 joint publications

Patrick F Chinnery

3 joint publications

Henry Houlden

Top Related Videos

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on : Oct 10, 2025

915
Human Liver Spheroids from Peripheral Blood for Liver Disease Studies
09:51

Human Liver Spheroids from Peripheral Blood for Liver Disease Studies

Published on : Jan 27, 2023

2.2K
An<em> In Vitro</em> Approach to Study Mitochondrial Dysfunction: A Cybrid Model
06:05

An<em> In Vitro</em> Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on : Mar 09, 2022

4.3K
See more related videos

Top Related Videos

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on : Oct 10, 2025

915
Human Liver Spheroids from Peripheral Blood for Liver Disease Studies
09:51

Human Liver Spheroids from Peripheral Blood for Liver Disease Studies

Published on : Jan 27, 2023

2.2K
An<em> In Vitro</em> Approach to Study Mitochondrial Dysfunction: A Cybrid Model
06:05

An<em> In Vitro</em> Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on : Mar 09, 2022

4.3K
See more related videos