Zarazuela Zolkipli-cunningham | Faculty | About Us | Perelman School of Medicine | Perelman School of Medicine at the University of Pennsylvania

About Us
Our Faculty
Zarazuela Zolkipli-cunningham

Zarazuela Zolkipli-Cunningham, MBChB, MRCP

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

Penn Medical Faculty Senate Steering Committee , University of Pennsylvania

Department: Pediatrics

Contact information

12th Floor, The Hub Building,
Children's Hospital of Philadelphia
3501 Civic Center Boulevard
Philadelphia, PA 19104

Office: 2674264961

Publications

Search PubMed for articles

Education:
MBChB
Edinburgh University Medical School, Scotland, UK, 1996.
MRCPCH
Royal College of Physicians, Edinburgh, Scotland, 1999.

Permanent link

> Perelman School of Medicine > Faculty > Details

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

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 December 2025 Notes: DOI 10.1088/1361-6439/ae2874 (Accepted).

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, July 2025 Notes: https://doi.org/10.1177/20406223251344763. Supported by 2024-2029 NIH/NIAMS R01.

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. Supported by 2024-2029 NIH/NIAMS R01.

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.

George-Sankoh I, MacMullen LE, Chinwalla AT, Taylor D, Ganetzky R, Stanley K, McCormick EM, Zolkipli-Cunningham Z, Falk, MJ: MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data. Journal of the American Medical Informatics Association 7(4): ooae134, November 2024 Notes: doi: 10.1093/jamiaopen/ooae134. eCollection 2024 Dec.

Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DA, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler FJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal P, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfund R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel A, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha RG, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, Küry S, Katanaev VL, Zhang Y, Lenardo MJ, Su HC: Germline mutations in a G protein identify signaling cross-talk in T cells. Science 20(385): eadd8947, September 2024 Notes: doi: 10.1126/science.add8947.

Coratti G, 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, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Sansone VA, Day J, Baranello G, Pera MC, Muntoni F, Finkel R, Mercuri E.: Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA. Neuromuscul Disord. 41: 42-50, Aug 2024 Notes: doi: 10.1016/j.nmd.2024.05.003. Epub 2024 May 9.