Sam Russo

Assistant Professor

The University of Texas Health Science Center at Houston John P and Katherine G McGovern Medical School

United States

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About

Dr. Sam Russo is an Assistant Professor at The University of Texas Health Science Center at Houston John P and Katherine G McGovern Medical School in Houston, TX, US. His research areas include mitochondrial genetics, cancer surveillance in ataxia telangiectasia, and treatment approaches for rare orphan diseases. Dr. Russo has published significant work on pathogenic variants related to Leigh syndrome and has contributed to consensus guidelines for rare genetic conditions.

Articles (10)

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2025

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2023

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2023

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2022

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2022

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2022

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2021

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2021

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2021

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2020

Collaborators (3)

Katherine Schon

NIHR Academic Clinical Lecturer

University of Cambridge

UNITED KINGDOM

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Lenka Noskova

Charles University

CZECH REPUBLIC

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Robert Dineen

Professor of Neuroradiology

University of Nottingham

UNITED KINGDOM

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Sam Russo

Research Interests

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Articles (10)

Doxecitine and doxribtimine treatment in an adult patient with thymidine kinase 2 deficiency

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.

Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890]

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases

A new pathogenic POLG variant.

Altered Mental Status, Ataxia, and Ophthalmoplegia in an 8-year-old Girl

Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children

Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children

Teaching NeuroImages: Infantile-onset Krabbe disease with tigroid appearance of the white matter.

Collaborators (3)

Katherine Schon

Lenka Noskova

Robert Dineen

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