Zarazuela Zolkipli-Cunningham, MBChB, MRCP

faculty photo
Assistant Professor of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia
Attending Physician, Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia
Faculty, Center of Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia
Clinical Research Director, Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia
Department: Pediatrics
Contact information
Children's Hospital of Philadelphia
12th Floor, The Hub Building
3501 Civic Center Boulevard
Philadelphia, PA 19104
Office: 2674264961
Publications

Search PubMed for articles
Links
Search PubMed for articles
 CHOP Press release of published review paper on Mitochondrial Supplements
North American Mitochondrial Disease Consortium
2025 United Mitochondrial Disease Foundation (UMDF) Annual Meeting Scientific Organizer.
UMDF Ask the MitoDoc session, March 2024
Rare Diseases Clinical Research Network (RDCRN) Impact Features
CHOP Press release of MM-COAST manuscript publication
RDCRN Early Stage Investigator Spotlight
CHOP Press release on Nutritional Deficiencies in Primary Mitochondrial Disease publication
ClinGen Mitochondrial Disease Gene Curation Expert Panel Co-Lead
Penn Institute for Translational Medicine and Therapeutics (ITMAT)
CHOP Annual Mitochondrial CME Education Talks
CHOP Press release on expert review of nutritional interventions in Mitochondrial Disease
North American Mitochondrial Disease Consortium (NAMDC) Early Stage Investigator Blog
CHOP Percutaneous Needle Muscle Biopsy
United Mitochondrial Disease Foundation Scientific and Medical Advisory Board
ORCID
Google Scholar
Announcement of the 2023 United Mitochondrial Disease Foundation (UMDF) Clinical Trial Pavillion, Charlotte, North Carolina
Department of Defense Congressionally Directed Medical Research Program Focused Program Award.
ClinGen Leigh syndrome Gene Curation Study
Scopus
Mitochondrial Myopathy Composite Outcome Measure Tool (MM-COAST)
Education:
MBChB
Edinburgh University Medical School, Scotland, UK, 1996.
 MRCPCH
Royal College of Physicians, Scotland, UK, 1999.
Permanent link
 
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Description of Clinical Expertise

Mitochondrial Myopathy diagnosis and management
Percutaneous Muscle Needle Biopsy
Mitochondrial Disease
Mitochondrial Dysfunction
Neuromuscular

Description of Research Expertise

Mitochondrial Myopathy outcome measures
Mitochondrial Myopathy exercise testing
Mitochondrial Myopathy clinical trials
Neuromuscular
Myopathy
Mitochondria
Exercise
Spinal Muscular Atrophy
Nanosensor
Muscle Oxygen
Leigh syndrome
Longitudinal Studies

Selected Publications

Krosschell K, Dunaway Y, Maczek E, Brown L, Hoffman K, Corbo-Galli C, Muni-Lofra R, Coratti G, Moore Burk M, Townsend E, Kelley C, Weigel C, Civitello M, Kanner C, McIntyre M, Nelson L, Rao V, Castro D, Farrar M, Kuntz N, Apkon S, Zolkipli-Cunningham Z.: Navigating New Motor Function Trajectories: Best Practice Recommendations for Assessment in the Era of Newborn Screening and Early Treatment in SMA. Journal of Neuromuscular Diseases Page: Accepted, March 2026.

 Venkatesh V, Burg L, Anderson V, Zolkipli-Cunningham Z, Falk M, Allen M: Microfabricated Electrochemical Oxygen Sensors with Hydrogel Electrolytes for In Vivo Applications. Journal of Micromechanics and Microengineering Page: Accepted, Feb 2026.

 Coratti G, Bovis F, Franchino V, Montes J, Sansone VA, Young SD, Cutrì C, Pasternak A, Pera MC, Pane M, Glanzman A, Pegoraro E, Duong T, Sogus E, Sframeli M, Messina S, Cavalcante E, Scoto MC, D'Amico A, Rodriguez-Torres R, Mongini T, Maggi L, Coccia M, Filosto M, Zuccarino R, Masson R, Ricci G, Bruno C, Ruggiero L, Vacchiano V, D'errico E, Verriello L, Nigro V, Scarpini G, Garibaldi M, Turri M, Ticci C, Berardinelli A, Agosto C, Ricci F, Zolkipli-Cunningham Z, Darras BT, Day J, Hirano M, Muntoni F, Richard S Finkel RS, Mercuri E, International SMA consortium (ISMAC): Loss of ambulation in SMA III at the time of disease-modifying treatments: an international study. J Neurol Neurosurg Psychiatry Jan 2026 Notes: doi: 10.1136/jnnp-2025-337505. Online ahead of print.

 Coratti G, Bovis F, Franchino V, Montes J, Sansone V, Dunaway Young S, Cutrì C, Pasternak A, Pera MC, Pane M, Glanzman AM, Pegoraro E, Duong T, Sogus E, Sframeli M, Messina S, Cavalcante E, Scoto MC, D'Amico A, Rodriguez-Torres R, Mongini T, Maggi L, Coccia M, Filosto M, Zuccarino R, Masson R, Ricci G, Bruno C, Ruggiero L, Vacchiano V, D'Errico E, Verriello L, Nigro V, Scarpini G, Garibaldi M, Turri M, Ticci C, Berardinelli A, Agosto C, Ricci F, Zolkipli-Cunningham Z, Darras BT, Day J, Hirano M, Muntoni F, Finkel RS, Mercuri E.: Loss of ambulation in SMA III at the time of disease modifying treatments: an international study. J Neurol Neurosurg Psychiatry. Page: doi: 10.1136/jnnp-2025-337505, January 2026.

 Coratti G, Bovis F, Pane M, Pasternak A, Albamonte E, Mizzon I, Glanzman AM, Morando S, Montes J, Cavallina I, Young SD, Duong T, Rolle E, Civitello M, De Sanctis R, Bravetti C, Ricci F, Gadaleta G, Mongini T, Sframeli M, Carmela Pera MC, Messina S, D’Amico A, Catteruccia M, Brolatti N, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Day J, Sansone VA, Finkel R, Eugenio Mercuri the ISMAC/international SMA consortium.: Longitudinal assessment of 4-year HFMSE changes in SMA II and III patients treated with nusinersen. European Journal of Neurology 32(7): e70268, Jul 2025 Notes: doi: 10.1111/ene.70268.

 McCormick EM, Peterson JT, Santos JDD, Flickinger J, Xiao R, Haas R, Zolkipli-Cunningham Z*.: The profound implications of Mitochondrial Myopathy on activities of daily living: An observational qualitative study of standardized structured and semi-structured patient interviews. Therapeutic Advances in Chronic Disease 16(6): doi.org/10.1177/20406223251344763, July 2025 Notes: ecollection.

 Pasternak A, McDermott MP, Montes J, Glanzman AM, Coratti G, Young SD, Tina Duong T, Martens WB, Day JW, Zolkipli-Cunningham Z, Sansone VA, Messina ADS, Bruno C, Mercuri E, De Vivo DC, Darras BT.: Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in untreated and nusinersen-treated patient cohorts. Neurology 105(2): e213839, July 2025 Notes: doi: 10.1212/WNL.0000000000213839. Epub 2025 Jun 27.

 Wang J*, Peterson J, Santos SD, Chan ADJ, Diaz-Miranda MA, Rahaman I, Flickinger J, Goldstein A, Bogush E, McCormick EM, Muraresku CC, Anderson VE, Dulik M, Wallace DC, Xiao R, Falk MJ, Viaene AN, Zolkipli-Cunningham Z*: Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease. Frontiers in Pharmacology 16: 1507493, April 2025 Notes: https://doi.org/10.3389/fphar.2025.1507493.

 Coratti G, Bovis F, Pera MC, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D’Amico A, Brolatti N, Pane M, Scoto M, Messina S, Escudero JE, De Waele L, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Osorio AN, Bruno C, Goemans N, Sansone VA, Day J, Baranello G, Muntoni F, Finkel R, Mercuri E : Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale – Expanded. European Journal of Neurology 31(12): e16517, Dec 2024 Notes: doi: 10.1111/ene.16517. Epub 2024 Oct 11.

 Coratti G, Civitello M, Rohwer A, Albamonte E, Montes J, Glanzman AM, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Sansone VA, Salmin F, Day J, Baranello G, Pera MC, Muntoni F, Finkel RS, Mercuri E: Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module. Neuromuscular Disorders 44: 104449, November 2024 Notes: doi: 10.1016/j.nmd.2024.08.006. Epub 2024 Aug 28.
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Last updated: 03/02/2026
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