Selected Publications

Semenetz Z, Lewis AM, Arasteh K, Liu T, Demczko M.: Comparison of 2 Models of Care for Children With Medical Complexity Following Spinal Fusion. Clin Pediatr 63(11): 1537-1543, Nov 2024.

MacMullen LE, Stanley KD, Yeske P, Wilson N, Koenig MK, Clearman A, Russo SN, Poblete M, Guerra WH, Patel N, Cohen BH, Rossman I, Ginsberg M, Steiner S, Coppenger J, Tonni H, Erdesky A, Haas R, Yang J, Ruiz C, Reiner G, Murray S, Maguire A, Massucci S, Martin L, Christodoulou J, Thorburn D, Rahman S, McFarland R, Bertini E, Elsharkawi I, George-Sankoh I, Tormey C, Demczko MM, Zolkipli-Cunningham Z, Goldstein AC, Falk MJ: Leigh Syndrome Roadmap Project: A Natural History Study. United Mitochondrial Disease Foundation Meeting, Cleveland, OH, Poster presentation June 2024.

MacMullen LE, Stanley KD, Santos JD, Flickinger J, Nguyen S, Muraresku C, Tormey C, Demczko MM, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC: Elamipretide via Open Label Expanded Access Program in Patients with Genetically-Confirmed Primary Mitochondrial Disorders United Mitochondrial Disease Foundation Annual Meeting, Cleveland, OH, Poster presentation June 2024.

Tormey C, Bogush E, Goldstein A, Demczko MM, Falk MJ   : Avoidant/Restrictive Food Intake Disorder (ARFID) in Mitochondrial Disease – a Dangerous Diagnosis. United Mitochondrial Disease Foundation Annual Meeting, Cleveland, OH, Poster presentation June 2024.

Stanley KD, Reynolds E, MacMullen LE, Qunell E, Weis M, Tormey C, Demczko MM, Goldstein AC, Falk MJ, Ganetzky R.: The Champ Foundation Registry (CFR): Single Large-Scale Mitochondrial Deletion Syndrome Natural History Study (SLSMDS-NHS) United Mitochondrial Disease Foundation Annual Meeting, Cleveland, OH, Poster presentation June 2024.

Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C.: A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy. Neuromuscul Disord. 34: 32-40, Jan 2024 Notes:

Wongkittichote P, Pantano C, He M, Hong X, Demczko MM.: Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options. JIMD Rep 65(5): 102-109, Jan 2024.

Stefanatos A, Demczko MM, Tormey C, Goldstein A.: Neuropsychiatric Manifestations and Comorbidities of Mitochondrial Disorders. Pediatric Neuropsychiatry: A Case Based Approach. 2nd Edition. Page: In press, 2024 Notes: Chapter.

Barca E, Kroopnick A, Houck A, Thakur K, Dugue R, Zolkipli-Cunningham Z, Falk MJ, Goldstein A, Demczko MM, Gavrilova R, Larson A, Van Hove J, Saneto R, Buchsbaum R, Thompson J, Hirano M: Adult-Onset Leigh Syndrome: An analysis of the North American Mitochondrial Disease Consortium Database. American Academy of Neurology Meeting, Denver, CO, Poster presentation 2024.

Wongkittichote P, Pantano C, Bogush E, Alves CAP, Hong X, He M, Demczko MM, Ganetzky RD, Goldstein A: Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers. Mol Genet Metab 140(1-2): 107710, Sept-Oct 2023.