Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease

Autor: Elander, Johanna, McCormick, Elizabeth M., Värendh, Maria, Stenfeldt, Karin, Ganetzky, Rebecca D., Goldstein, Amy, Zolkipli-Cunningham, Zarazuela, MacMullen, Laura E., Xiao, Rui, Falk, Marni J., Ehinger, Johannes K.

Publikováno v: In Molecular Genetics and Metabolism November 2022 137(3):230-238

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.

Autor: Karaa, Amel¹ (AUTHOR) akaraa@mgh.harvard.edu, MacMullen, Laura E.² (AUTHOR) dennisl@chop.edu, Campbell, John C.³ (AUTHOR), Christodoulou, John⁴ (AUTHOR), Cohen, Bruce H.⁵ (AUTHOR), Klopstock, Thomas^6,7,8,9 (AUTHOR), Koga, Yasutoshi¹⁰ (AUTHOR), Lamperti, Costanza¹¹ (AUTHOR), van Maanen, Rob¹² (AUTHOR), McFarland, Robert¹³ (AUTHOR), Parikh, Sumit¹⁴ (AUTHOR), Rahman, Shamima¹⁵ (AUTHOR), Scaglia, Fernando^16,17,18 (AUTHOR), Sherman, Alexander V.¹⁹ (AUTHOR), Yeske, Philip²⁰ (AUTHOR), Falk, Marni J.^2,21 (AUTHOR) falkm@chop.edu

Publikováno v: Advanced Genetics. Mar2022, Vol. 3 Issue 1, p1-11. 11p.

Development of a Mitochondrial Myopathy-Composite Assessment Tool

Autor: Flickinger, Jean, Fan, Jiaxin, Wellik, Amanda, Ganetzky, Rebecca, Goldstein, Amy, Muraresku, Colleen C., Glanzman, Allan M., Ballance, Elizabeth, Leonhardt, Kristin, McCormick, Elizabeth M., Soreth, Brianna, Nguyen, Sara, Gornish, Jennifer, George-Sankoh, Ibrahim, Peterson, James, MacMullen, Laura E., Vishnubhatt, Shailee, McBride, Michael, Haas, Richard, Falk, Marni J., Xiao, Rui, Zolkipli-Cunningham, Zarazuela

Publikováno v: JCSM clinical reports

Background ‘Mitochondrial Myopathy’ (MM) refers to genetically-confirmed Primary Mitochondrial Disease (PMD) that predominantly impairs skeletal muscle function. Validated outcome measures encompassing core MM domains of muscle weakness, muscle f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f2a9c81bc78b3cc3703b154bd2f9d146
http://europepmc.org/articles/PMC8782422

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MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data.

Autor: George-Sankoh I; Mitochondrial Medicine Frontier Program (MMFP), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States., MacMullen LE; Mitochondrial Medicine Frontier Program (MMFP), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States., Chinwalla AT; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States., Taylor D; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States., Ganetzky RD; Mitochondrial Medicine Frontier Program (MMFP), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States.; Center for Computational Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States., Stanley K; Mitochondrial Medicine Frontier Program (MMFP), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States., McCormick EM; Mitochondrial Medicine Frontier Program (MMFP), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States., Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program (MMFP), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States., Falk MJ; Mitochondrial Medicine Frontier Program (MMFP), Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States.

Publikováno v: JAMIA open [JAMIA Open] 2024 Nov 18; Vol. 7 (4), pp. ooae134. Date of Electronic Publication: 2024 Nov 18 (Print Publication: 2024).