Amy C. Goldstein, M.D.
Professor of Clinical Pediatrics (Human Genetics)
Core Faculty, The Center of Mitochondrial and Epigenomic Medicine (CMEM), Children’s Hospital of Philadelphia Research Institute
Fellowship Co-Director, Mitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia
Department: Pediatrics
Contact information
Children’s Hospital of Philadelphia
Division of Human Genetics
Department of Pediatrics
Clinical HUB for Collaboration
3500 Civic Center Blvd.
12th Floor
Philadelphia, PA 19104
Division of Human Genetics
Department of Pediatrics
Clinical HUB for Collaboration
3500 Civic Center Blvd.
12th Floor
Philadelphia, PA 19104
Email:
goldsteina@chop.edu
goldsteina@chop.edu
Education:
B.S. (Biology, Psychology)
Syracuse University, 1988.
M.D. (Medicine)
University of Pittsburgh , 1996.
Permanent linkB.S. (Biology, Psychology)
Syracuse University, 1988.
M.D. (Medicine)
University of Pittsburgh , 1996.
Selected Publications
Lopriore P, Ünlütürk Z, Klopstock T, Karaa A, Rouzier C, Domínguez-González C, Lamperti C, Mancuso M; Twinkle-Related Disorders International Consortium for Trial Readiness (TReDIC); Cecchi G, Montano V, Siciliano G, Nicoletta V, Maioli M, Primiano G, Servidei S, La Morgia C, Carelli V, Valentino ML, Caporali L, Arena IG, Musumeci O, Lopergolo D, Malandrini A, Gallus GN, Filosto M, Bello L, Pegoraro E, Comi GP, Magri F, Ronchi D, Di Fonzo A, Percetti M, Azzimonti M, Büchner B, Prokisch H, Bermejo-Guerrero L, Procaccio V, Gaignard P, Echaniz-Laguna A, Schiff M, Rötig A, Toutain A, Paquis-Flucklinger V, Morel G, Robin S, Nadaj-Pakleza A, Chanson JB, Chaussenot A, Ait-El-Mkadem Saadi S, Trimouille A, Tranchant C, Salort-Campana E, Bieth E, Sacconi S, Duval F, Restrepo Vera JL, Molnar MJ, Vissing J, Haas R, Larson A, Enns GM, Parikh S, Goldstein A, Hirano M. : Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study. Neurology. Feb 2026.Stefanatos A, Tormey C, Demczko M, Goldstein A. : "Mitochondrial Disease and the Brain: Beyond the Typical Neurological Manifestations", (Chapter 28). Pediatric Neuropsychiatry (book). Aaron J. Hauptman and Jay A. Salpekar (Eds) (eds.). Springer Nature publishers, 2026.
Jain V, Yang E, Goldstein A, Anselm IA, Alves C. : Extensive Cerebellitis as a Key Neuroimaging Feature in a Child With MT-ATP6 Pathogenic Variant. Neurology. Nov 2025.
Elsharkawi I, Goldstein A, Ganetzky RD, Morava E. : Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape. Pediatr Neurol. Nov 2025.
Mirzaa GM, Yan K, Relator R, Levesque M, Jayasinghe P, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan KG, Guillen Sacoto MJ, Dobyns WB, Park KL, Fernández-Mayoralas DM, Fernández-Jaén A, Jayakar P, Palomares-Bralo M, Santos-Simarro F, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Štěrbová K, Smal N, Weckhuysen S, Oegema R, Innes AM, Koboldt DC, Ben-Omran T, Yeh RC, Kruer MC, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci SA, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald KA, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B, Picketts DJ. : Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition. Nat Commun. Nov 2025.
Medrano P, Banderas B, Brimmer M, Settel L, Berger S, Shields A, Goldstein A, Karaa A, Larson A, Parikh S, Scaglia F, Harrington KD, Edgar CJ, Ventola P, Webster M, Chickering J, Gwaltney C, Wilson P, Glasser C. : Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives. J Patient Rep Outcomes. Oct 2025.
MacMullen LE, Reynolds E, Weis M, George-Sankoh I, Nguyen S, Stanley KD, Redko M, Poblete M, Goldstein AC, Ganetzky RD. : Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes. Orphanet J Rare Dis. Aug 2025.
Karaa A, Goldstein A, Cohen BH, Haas RH, Vockley J, Gorman GS, Mancuso M : RePOWER, MMPOWER‐3, and MOTOR investigators. RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial Myopathy. Clin Genet. Aug 2025.
Sharma S, Peterson J, Alves CA, Xiao R, Goldstein A. Neuroimaging patterns in patients with mitochondrial leukoencephalopathies. : Neuroimaging patterns in patients with mitochondrial leukoencephalopathies. J Neurol Sci. Jul 2025.
Alves CAPF, Rossi-Espagnet MC, Perez F, Manteghinejad A, Peterson JT, Ganetzky R, Napolitano A, Grassi F, George-Sankoh I, Yildiz H, Muraresku C, Falk MJ, Martinelli D, Longo D, Vanderver A, Gandolfo C, Saneto RP, Goldstein A, Vossough A. : Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients. AJNR Am J Neuroradiol. Jun 2025.