Marni J Falk (M J Falk)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 20

Top Venues

Journal of the American Heart Association

AJNR. American journal of neuroradiology

Human mutation

PloS one

University of Pennsylvania

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Pennsylvania Aug 01 2006

United States

Assistant Professor :: Pediatrics

Publications

Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M McCormick, Hakon H Hakonarson, Sandra Mercier, Marni J Falk
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report. Neurology. Clinical practice 14 (3) (2024)
Jeffrey R Boris, Edward C Shadiack, Elizabeth M McCormick, Laura E MacMullen, Ibrahim George-Sankoh, Marni J Falk
Long-Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes. Journal of the American Heart Association 13 (14) (2024)
Min Peng, Neal D Mathew, Vernon E Anderson, Marni J Falk, Eiko Nakamaru-Ogiso
N -Glycosylation of MRS2 balances aerobic and anaerobic energy production by reducing rapid mitochondrial Mg 2+ influx in conditions of high glucose or impaired respiratory chain function. bioRxiv : the preprint server for biology (2024)
Jeffrey R Boris, Edward C Shadiack, Elizabeth M McCormick, Laura E MacMullen, Ibrahim George-Sankoh, Marni J Falk
Long-Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes. Journal of the American Heart Association 13 (14) (2024)
Jeffrey R Boris, Edward C Shadiack, Elizabeth M McCormick, Laura E MacMullen, Ibrahim George-Sankoh, Marni J Falk
Long-Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes. Journal of the American Heart Association 13 (14) (2024)
Jeffrey R Boris, Edward C Shadiack, Elizabeth M McCormick, Laura E MacMullen, Ibrahim George-Sankoh, Marni J Falk
Long-Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes. Journal of the American Heart Association (2024)
Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M McCormick, Hakon H Hakonarson, Sandra Mercier, Marni J Falk
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report. Neurology. Clinical practice 14 (3) (2024)
Min Peng, Neal D Mathew, Vernon E Anderson, Marni J Falk, Eiko Nakamaru-Ogiso
N -Glycosylation of MRS2 balances aerobic and anaerobic energy production by reducing rapid mitochondrial Mg 2+ influx in conditions of high glucose or impaired respiratory chain function. bioRxiv : the preprint server for biology (2024)
Suraiya Haroon, Heeyong Yoon, Christoph Seiler, Bruce Osei-Frimpong, Jie He, Rohini M Nair, Neal D Mathew, Leonard Burg, Melis Kose, Chavali Venkata, Vernon E Anderson, Eiko Nakamaru-Ogiso, Marni J Falk
N-Acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome. Human molecular genetics (2023)
César Augusto Pinheiro Ferreira Alves, Alireza Zandifar, James T Peterson, S Z Tara, Rebecca D Ganetzky, Angela N Viaene, Savvas Andronikou, Marni J Falk, Arastoo Vossough, A C Goldstein
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations. AJNR. American journal of neuroradiology (2023)
Sujay Guha, Neal D Mathew, Chigoziri Konkwo, Julian Ostrovsky, Young Joon Kwon, Erzsebet Polyak, Christoph Seiler, Michael Bennett, Rui Xiao, Zhe Zhang, Eiko Nakamaru-Ogiso, Marni J Falk
Combinatorial glucose, nicotinic acid and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease. Human molecular genetics 30 (7) (2022)
Jean Flickinger, Jiaxin Fan, Amanda Wellik, Rebecca Ganetzky, Amy Goldstein, Colleen C Muraresku, Allan M Glanzman, Elizabeth Ballance, Kristin Leonhardt, Elizabeth M McCormick, Brianna Soreth, Sara Nguyen, Jennifer Gornish, Ibrahim George-Sankoh, James Peterson, Laura E MacMullen, Shailee Vishnubhatt, Michael McBride, Richard Haas, Marni J Falk, Rui Xiao, Zarazuela Zolkipli-Cunningham
Development of a Mitochondrial Myopathy-Composite Assessment Tool. JCSM clinical reports 6 (4) (2021)
Karen L Madsen, Astrid Emilie Buch, Bruce H Cohen, Marni J Falk, Angela Goldsberry, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Colleen C Muraresku, Colin Meyer, Megan O'Grady, Fernando Scaglia, Perry B Shieh, Jerry Vockley, Zarazuela Zolkipli-Cunningham, Ronald G Haller, John Vissing
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial. Neurology 94 (7) (2020)
Elizabeth M McCormick, Marie T Lott, Matthew C Dulik, Lishuang Shen, Marcella Attimonelli, Ornella Vitale, Amel Karaa, Renkui Bai, Daniel E Pineda-Alvarez, Larry N Singh, Christine M Stanley, Stacey Wong, Anshu Bhardwaj, Daria Merkurjev, Rong Mao, Neal Sondheimer, Shiping Zhang, Vincent Procaccio, Douglas C Wallace, Xiaowu Gai, Marni J Falk
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Human mutation 41 (12) (2020)
Marni J Falk
The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery. Journal of inherited metabolic disease 44 (2) (2020)
César Augusto Pinheiro Ferreira Alves, A C Goldstein, Sara Reis Teixeira, Juan Sebastian Martin Saavedra, Isabella Peixoto de Barcelos, Giulia Fadda, Luca Caschera, Martin Kidd, Fabricio Guimarães Gonçalves, Elizabeth M McCormick, Marni J Falk, Zarazuela Zolkipli-Cunningham, Arastoo Vossough, Giulio Zuccoli
Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children. AJNR. American journal of neuroradiology 42 (2) (2020)
Fabricio Guimarães Gonçalves, B J Hill, Y Guo, Colleen C Muraresku, Elizabeth M McCormick, César Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Juan Sebastian Martin Saavedra, Zarazuela Zolkipli-Cunningham, Marni J Falk, Arastoo Vossough, A C Goldstein, Giulio Zuccoli
The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders. AJNR. American journal of neuroradiology 41 (5) (2020)
Rebecca D Ganetzky, Claudia Stendel, Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Amy C Goldstein, Thomas Klopstock, Marni J Falk
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. Human mutation 40 (5) (2019)
Margaret A Gustafson, Elizabeth M McCormick, Lalith Perera, Matthew J Longley, Renkui Bai, Jianping Kong, Matthew Dulik, Lishuang Shen, Amy C Goldstein, Shana E McCormack, Benjamin L Laskin, Bart P Leroy, Xilma R Ortiz-González, Meredith G Ellington, William C Copeland, Marni J Falk
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes. PloS one 14 (9) (2019)
Zarazuela Zolkipli-Cunningham, Rui Xiao, Amy Stoddart, Elizabeth M McCormick, Amy Holberts, Natalie Burrill, Shana McCormack, Lauren Williams, Xiaoyan Wang, John L P Thompson, Marni J Falk
Mitochondrial disease patient motivations and barriers to participate in clinical trials. PloS one 13 (5) (2018)

Marni J Falk.css-eqlu8i{font-size:small;padding-left:4px;} (M J Falk)

Publication Activity (10 Years)

Top Topics

Top Venues

Marni J Falk (M J Falk)