Sumit Parikh

9PUBLICATIONS
142CO-AUTHORS
Medical infection agents (incl. prions)Major global burdens of diseaseInfant and child healthPacific Peoples and disabilityMedical molecular engineering of nucleic acids and proteins
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Publications (9)

|Jun 10, 2026
Expanding the MRPS34 Genotype-Phenotype Correlation: Two Novel Cases and a Cohort Review.

|Jan 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock

|Jan 30, 2025
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

Alina Ivaniuk, Irina A Anselm, Aaron Bowen

|Sep 13, 2023
Understanding the impact of pediatric single large-scale mtDNA deletion syndromes on caregivers: Burdens and challenges.

McKenzie Chappell, Sumit Parikh, Elizabeth Reynolds

|Aug 30, 2023
Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice.

Margaret Moore, Philip Yeske, Sumit Parikh

|Jun 11, 2020
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.

Virginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean

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Frequent Collaborators

2 joint publications

Michelangelo Mancuso

2 joint publications

Mary Kay Koenig

2 joint publications

Manuel Schiff

2 joint publications

Austin Larson