Publications by authors named "Marni Falk"

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Long-Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey: Educational, Economic, and Social Impact.
Jeffrey R Boris, Edward C Shadiack, Elizabeth M McCormick, Laura MacMullen, Ibrahim George-Sankoh, Marni J Falk

J Am Heart Assoc· November 2025

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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Marni J Falk

Brain· November 2025

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Mitochondria transfer.
Navdeep S Chandel, Marni J Falk, Janine H Santos, Jonathan R Brestoff, Ana V Lechuga-Vieco

Nat Metab· September 2025

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Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups.
Surita Meldau, Elizabeth M McCormick, Ibrahim George-Sankoh, Gillian T Riordan, Kashief Khan, Marni J Falk

JIMD Rep· July 2025

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The Long-Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey-Gynecologic Findings: A Cross-Sectional Survey in Young Women.
Jeffrey R Boris, Edward C Shadiack, Elizabeth M McCormick, Laura E MacMullen, Ibrahim George-Sankoh, Marni Falk

Obstet Gynecol Int· July 2025

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Zagociguat prevented stressor-induced neuromuscular dysfunction, improved mitochondrial physiology, and increased exercise capacity in diverse mitochondrial respiratory chain disease zebrafish models.
Leonard Burg, Heeyong Yoon, Min Peng, Peter Germano, Emily Reesey Gretzmacher, Marni J Falk

Front Pharmacol· July 2025

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ndufs2 zebrafish have impaired survival, neuromuscular activity, morphology, and one-carbon metabolism treatable with folic acid.
Dana V Mitchell, Donna M Iadarola, Neal D Mathew, Kelsey Keith, Christoph Seiler, Marni J Falk

bioRxiv· July 2025

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Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.
Cesar A P F Alves, Maria Camilla Rossi-Espagnet, Francisco Perez, Amirreza Manteghinejad, James T Peterson, Marni J Falk

AJNR Am J Neuroradiol· June 2025

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Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS).
Rebecca Ganetzky, Katelynn D Stanley, Laura E MacMullen, Ibrahim George-Sankoh, Jing Wang, Marni J Falk

Genet Med· May 2025

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Zebrafishology, study design guidelines for rigorous and reproducible data using zebrafish.
Victoria M Bedell, Priya Dubey, Han B Lee, Dondra S Bailey, Jennifer L Anderson, Marni J Falk

Commun Biol· May 2025

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Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.
Jing Wang, James T Peterson, Joaquim Diego D Santos, Ada J S Chan, Maria Alejandra Diaz-Miranda, Marni J Falk

Front Pharmacol· April 2025

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Small-molecule hypoxia therapy in mitochondrial disease.
Marni J Falk

Cell· March 2025

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The GENESIS database and tools: A decade of discovery in Mendelian genomics.
Matt C Danzi, Eric Powell, Adriana P Rebelo, Maike F Dohrn, Danique Beijer, Marni Falk

Exp Neurol· December 2024

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MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data.
Ibrahim George-Sankoh, Laura E MacMullen, Asif T Chinwalla, Deanne Taylor, Rebecca D Ganetzky, Marni J Falk

JAMIA Open· December 2024

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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M Ennes, Marni J Falk

Orphanet J Rare Dis· November 2024

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Mitophagy modulation rescues single large-scale mitochondrial DNA deletion (SLSMD) disease symptoms in the animal model.
Ryan M Mendel, Sofie Matsuno, Alex Lu, Marni J Falk, Suraiya Haroon

bioRxiv· October 2024

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dldhcri3 zebrafish exhibit altered mitochondrial ultrastructure, morphology, and dysfunction partially rescued by probucol or thiamine.
Manuela Lavorato, Donna Iadarola, Cristina Remes, Prabhjot Kaur, Chynna Broxton, Marni J Falk

JCI Insight· August 2024

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Long-Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes.
Jeffrey R Boris, Edward C Shadiack, Elizabeth M McCormick, Laura MacMullen, Ibrahim George-Sankoh, Marni J Falk

J Am Heart Assoc· July 2024

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-Glycosylation of MRS2 balances aerobic and anaerobic energy production by reducing rapid mitochondrial Mg influx in conditions of high glucose or impaired respiratory chain function.
Min Peng, Neal D Mathew, Vernon E Anderson, Marni J Falk, Eiko Nakamaru-Ogiso

bioRxiv· July 2024

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Expanding the Spectrum of Congenital Myopathy Linked to Variants in the Gene: A Clinical Report.
Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Marni J Falk

Neurol Clin Pract· June 2024

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Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine.
Laura E MacMullen, Ibrahim George-Sankoh, Katelynn Stanley, Elizabeth M McCormick, Colleen C Muraresku, Marni J Falk

Mol Genet Metab· May 2024

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Marni J Falk

J Clin Invest· January 2024

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Kagami Ogata syndrome: a small deletion refines critical region for imprinting.
Gonench Kilich, Kelly Hassey, Edward M Behrens, Marni Falk, Adeline Vanderver

NPJ Genom Med· January 2024

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MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis.
Lishuang Shen, Marni J Falk, Xiaowu Gai

Curr Protoc· January 2024

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