Amel Karaa

Medical Genetics

55 Fruit St
Boston, MA 02114

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 70 publications

Use of nucleoside therapy for mitochondrial DNA depletion/deletion syndrome (MDDS).

Use of nucleoside therapy for mitochondrial DNA depletion/deletion syndrome (MDDS).

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: June 23, 2026

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Journal: Neurology

Published: January 15, 2026

Progress and perspectives in primary mitochondrial myopathy: Highlights from the 2025 mitochondrial medicine masterclass with a focus on TK2 deficiency.

Progress and perspectives in primary mitochondrial myopathy: Highlights from the 2025 mitochondrial medicine masterclass with a focus on TK2 deficiency.

Journal: Therapeutic advances in rare disease

Published: January 14, 2026

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Journal: European journal of neurology

Published: January 10, 2026

Patients' lived experience of thymidine kinase 2 deficiency: the online survey-based assessment of TK2d patient perspectives study.

Patients' lived experience of thymidine kinase 2 deficiency: the online survey-based assessment of TK2d patient perspectives study.

Journal: Therapeutic advances in rare disease

Published: December 09, 2025

2000-2025: Emerging therapies in primary mitochondrial disease: A structured review, horizon scan, and roadmap for the future.

2000-2025: Emerging therapies in primary mitochondrial disease: A structured review, horizon scan, and roadmap for the future.

Journal: Therapeutic advances in rare disease

Published: December 06, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives.

Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives.

Journal: Journal of patient-reported outcomes

Published: June 24, 2025

RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial Myopathy.

RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial Myopathy.

Journal: Clinical genetics

Published: April 24, 2025

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

Journal: Neurology

Published: January 30, 2025

Qualitative study of fatigue in adults with primary mitochondrial disease: Development of the PROMIS Fatigue Mitochondrial Disease Short Form.

Qualitative study of fatigue in adults with primary mitochondrial disease: Development of the PROMIS Fatigue Mitochondrial Disease Short Form.

Journal: Molecular genetics and metabolism

Published: December 02, 2024

Showing 1-12 of 70

Last Updated: 09/26/2026