Zarazuela Zolkipli-Cunningham

Pediatric Neurology

3401 Civic Center Blvd
Philadelphia, PA 19104

Last Updated: 09/26/2026

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Found 48 publications

MSeqDR PMD-VR: An Expert-Curated Virtual Registry of 11,000 Mitochondrial Disease Cases Established Through Literature Mining and Generative AI Augmentation.

MSeqDR PMD-VR: An Expert-Curated Virtual Registry of 11,000 Mitochondrial Disease Cases Established Through Literature Mining and Generative AI Augmentation.

Journal: Genes

Published: May 25, 2026

Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA.

Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA.

Journal: Journal of neuromuscular diseases

Published: April 07, 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

Endothelial-mitochondrial coupling in mitochondrial disease: A systematic review and quantitative synthesis of vascular, biochemical, and oxidative bioenergetic dysfunction.

Endothelial-mitochondrial coupling in mitochondrial disease: A systematic review and quantitative synthesis of vascular, biochemical, and oxidative bioenergetic dysfunction.

Journal: Therapeutic advances in rare disease

Published: December 10, 2025

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Journal: Therapeutic advances in rare disease

Published: November 19, 2025

Loss of ambulation in SMA III at the time of disease-modifying treatments: an international study.

Loss of ambulation in SMA III at the time of disease-modifying treatments: an international study.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: August 28, 2025

Quantitative assessment of efficacy and evaluation of feasibility of exercise training protocols in adult and pediatric primary mitochondrial disease.

Quantitative assessment of efficacy and evaluation of feasibility of exercise training protocols in adult and pediatric primary mitochondrial disease.

Journal: BMC medicine

Published: August 18, 2025

Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.

Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.

Journal: Neurology

Published: June 27, 2025

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen.

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen.

Journal: European journal of neurology

Published: February 05, 2025

Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.

Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.

Journal: Frontiers in pharmacology

Published: October 07, 2024

Germline mutations in a G protein identify signaling cross-talk in T cells.

Germline mutations in a G protein identify signaling cross-talk in T cells.

Journal: Science (New York, N.Y.)

Published: September 19, 2024

The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews.

The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews.

Journal: Therapeutic advances in chronic disease

Published: July 31, 2024

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Last Updated: 09/26/2026