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

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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

Clinical Research Director, Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia

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

Jing Wang*, James Peterson, Joaquim Diego Santos, Ada JS Chan, Maria Alejandra Diaz-Miranda, Imon Rahaman, Jean Flickinger, Amy Goldstein, Emily Bogush, Elizabeth M. McCormick, Colleen C. Muraresku, Vernon E. Anderson, Matthew Dulik, Douglas C. Wallace, Rui Xiao, Marni J. Falk, Angela N. Viaene, Zarazuela Zolkipli-Cunningham*.: 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(6), April 2025 Notes: https://doi.org/10.3389/fphar.2025.1507493

Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Emilio Albamonte, Irene Mizzon, Allan M Glanzman, Simone Morando, Jacqueline Montes, Ilaria Cavallina, Sally Dunaway Young, Tina Duong,Enrica Rolle, Matthew Civitello, Roberto De Sanctis, Chiara Bravetti, Federica Ricci, Giulio Gadaleta, Tiziana Mongini, Maria Sframeli, Maria Carmela Pera1, Sonia Messina14, Adele D’Amico6, Michela Catteruccia6, Noemi Brolatti8, Michio Hirano, Zarazuela Zolkipli-Cunningham, Basil T Darras, Enrico Bertini, Claudio Bruno, John Day, Valeria A Sansone, Richard Finkel, 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 2025 Notes: Accepted June, 2025.

Elizabeth M. McCormick, James T. Peterson, Joaquim Diego D. Santos, Jean Flickinger, Rui Xiao, Richard Haas, Zarazuela Zolkipli-Cunningham*.: 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 2025 Notes: Accepted May, 2025.

Isaac Martin, Imon Rahaman, Tejas Sarna, Nicholas Ginelli, Elizabeth B. Ballance, Michael G. McBride, Rui Xiao, Jean Flickinger, Zarazuela Zolkipli-Cunningham*: A Meta-Analysis of Efficacy of Distinct Exercise Protocols and Assessment of Feasibility in Pediatric and Adult Patients with Mitochondrial Disease. Neurotherapeutics 2025 Notes: Accepted May 5, 2025.

Amy Pasternak, Michael P. McDermott, Jacqueline Montes, Allan M. Glanzman, Giorgia Coratti, Sally Dunaway Young, Tina Duong, William B. Martens, John W. Day, Zarazuela Zolkipli-Cunningham, Valeria A. Sansone, Adele D’Amico, Sonia Messina, Claudio Bruno, Eugenio Mercuri, Darryl C. De Vivo, Basil T. Darras.: Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in untreated and nusinersen-treated patient cohorts. Neurology 2025 Notes: Accepted May, 2025.

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.

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), November 2024.

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 September 2024 Notes: Accepted September 2024.

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: G-proteins can promote T cell responses through a non-canonical cAMP-independent pathway. Science 20(385), September 2024 Notes: doi: 10.1126/science.add8947.

McGrattan K, Cerchiari A, Conway E, Berti B, Finkel R, Muntoni F, Mercuri E; iSMAC working group: : Fanelli, L, Coratti G, Sansone V, Albamonte E, Trucco F, Latini S, Bertini E, d’Amico A, Doglio L, Stimpson G, Baranello G, Scoto M, Rohwer A, Edel L, Lofra RM, Bettolo CM, Young SD, Day J, Duong T, Darras B, Pasternak A, Montes J, Rodiguez- Torres R, Chriboga C, Hirano M, Civitello M, Zolkipli-Cunningham Z, Brandsema J, Mayer H, Glanzmann A, Karagiannis J, Baldinetti F, Khader L, Costa P, Lovato I, Rastelleti I. : Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy. Neuromuscul Disord 38: 44-50, May 2024 Notes: doi: 10.1016/j.nmd.2024.02.003. Epub 2024 Mar 8.