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1

Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems

Kuszak, Adam J., Espey, Michael Graham, Falk, Marni J., Holmbeck, Marissa A., Manfredi, Giovanni, Shadel, Gerald S., Vernon, Hilary J., Zolkipli-Cunningham, Zarazuela

Journal:

Annual Review of Pathology Mechanisms of Disease

Year:

2018

Language:

english

File:

PDF, 1.09 MB

english, 2018

2

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

Shen, Lishuang, Diroma, Maria Angela, Gonzalez, Michael, Navarro-Gomez, Daniel, Leipzig, Jeremy, Lott, Marie T., van Oven, Mannis, Wallace, Douglas C., Muraresku, Colleen Clarke, Zolkipli-Cunningham,

Journal:

Year:

2016

Language:

english

File:

PDF, 343 KB

english, 2016

3

Hospitalizations for mitochondrial disease across the lifespan in the U.S.

McCormack, Shana E., Xiao, Rui, Kilbaugh, Todd J., Karlsson, Michael, Ganetzky, Rebecca D., Cunningham, Zarazuela Zolkipli, Goldstein, Amy, Falk, Marni J., Damrauer, Scott M.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 299 KB

english, 2017

4

Clinical effects of chemical exposures on mitochondrial function

Zolkipli-Cunningham, Zarazuela, Falk, Marni J.

Journal:

Year:

2017

Language:

english

File:

PDF, 481 KB

english, 2017

5

Evaluator Training and Reliability for SMA Global Nusinersen Trials1

Glanzman, Allan M., Mazzone, Elena S., Young, Sally Dunaway, Gee, Richard, Rose, Kristy, Mayhew, Anna, Nelson, Leslie, Yun, Chris, Alexander, Katie, Darras, Basil T., Zolkipli-Cunningham, Zarazuela, T

Journal:

Journal of Neuromuscular Diseases

Year:

2018

Language:

english

File:

PDF, 206 KB

english, 2018

6

Mitochondrial disease patient motivations and barriers to participate in clinical trials

Zolkipli-Cunningham, Zarazuela, Xiao, Rui, Stoddart, Amy, McCormick, Elizabeth M., Holberts, Amy, Burrill, Natalie, McCormack, Shana, Williams, Lauren, Wang, Xiaoyan, Thompson, John L. P., Falk, Marni

Journal:

Year:

2018

Language:

english

File:

PDF, 1.41 MB

english, 2018

7

SMA THERAPIES I

Day, J., Wolford, C., Macpherson, C., Hagerman, K., Paulose, S., Zeineh, M., Martens, W., McDermott, M., Darras, B., De Vivo, D., Zolkipli Cunningham, Z., Finkel, R., Sampson, J., Duong, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

8

Mitochondrial disease genetics update

McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Falk, Marni J.

Journal:

Current Opinion in Pediatrics

Year:

2018

Language:

english

File:

PDF, 231 KB

english, 2018

9

MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

Ganetzky, Rebecca D., Stendel, Claudia, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Goldstein, Amy C., Klopstock, Thomas, Falk, Marni J.

Journal:

Year:

2019

Language:

english

File:

PDF, 661 KB

english, 2019

10

Fatigue in Primary Genetic Mitochondrial Disease: No Rest for the Weary

Parikh, Sumit, Galioto, Rachel, Lapin, Brittany, Haas, Richard, Hirano, Michio, Koenig, Mary Kay, Saneto, Russell P., Zolkipli-Cunningham, Zarazuela, Goldstein, Amy, Karaa, Amel

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 939 KB

english, 2019

11

The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase Î³-Related Disorders

GonÃ§alves, F.G., Hill, B., Guo, Y., Muraresku, C.C., McCormick, E., Alves, C.A.P.F., Teixeira, S.R., Martin-Saavedra, J.S., Zolkipli-Cunningham, Z., Falk, M.J., Vossough, A., Goldstein, A., Zuccoli,

Journal:

American Journal of Neuroradiology

Year:

2020

File:

PDF, 1.16 MB

2020