Falk, Marni J: search on Z-Library

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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

A modern approach to the treatment of mitochondrial disease

Sumit Parikh, Russell Saneto, Marni J. Falk, Irina Anselm, Bruce H. Cohen, Richard Haas, The Mitochondrial Medicine Society

Journal:

Current Treatment Options in Neurology

Year:

2009

Language:

english

File:

PDF, 268 KB

english, 2009

3

8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease

Ganetzky, Rebecca D., Falk, Marni J.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 986 KB

english, 2018

4

Mitochondrial respiratory chain dysfunction variably increases oxidant stress in Caenorhabditis elegans

Stephen Dingley, Erzsebet Polyak, Richard Lightfoot, Julian Ostrovsky, Meera Rao, Todd Greco, Harry Ischiropoulos, Marni J. Falk

Journal:

Year:

2010

Language:

english

File:

PDF, 842 KB

english, 2010

5

mitoTALENs as DNA editing tools for mitochondrial diseases

Bacman, Sandra R., Hashimoto, Masami, Peralta, Susana, Falk, Marni J., Chomyn, Anne, Chan, David C., Williams, Sion L., Moraes, Carlos T.

Journal:

Year:

2015

Language:

english

File:

PDF, 46 KB

english, 2015

6

Harnessing big data to advance mitochondrial medicine: Integrating clinical need with emerging technologic opportunities

Journal:

Year:

2015

Language:

english

File:

PDF, 50 KB

english, 2015

7

Known and novel ATP6 mutations: Delineation of the phenotypic spectrum and functional effects

Ganetzky, Rebecca, McCormick, Elizabeth, Bennett, Michael, Ogiso, Eiko Nakamaru, Rodenberg, Richard, Falk, Marni J.

Journal:

Year:

2015

Language:

english

File:

PDF, 47 KB

english, 2015

8

Surveying the signaling landscape by transcriptome profiling in mitochondrial disease

Zhang, Zhe, Falk, Marni J.

Journal:

Year:

2015

Language:

english

File:

PDF, 57 KB

english, 2015

9

A systems biology approach to mitochondrial disease in C. elegans

Margaret M. Sedensky, Marni J. Falk, Eugene Kolker, Roger Higdon, Chris Newgard, Phil G. Morgan

Journal:

Year:

2012

Language:

english

File:

PDF, 85 KB

english, 2012

10

34. A transcriptional signature of primary mitochondrial disease is present across evolution

Marni J. Falk, Zhe Zhang, David L. Gasser, Marc Yudkoff

Journal:

Year:

2009

Language:

english

File:

PDF, 49 KB

english, 2009

11

115 Functional consequences of mtDNA variation in wild C. elegans isolates

Marni J. Falk, Stephen Dingley, Theodore Schurr

Journal:

Year:

2010

Language:

english

File:

PDF, 51 KB

english, 2010

12

Medical geneticists' duty to warn at-risk relatives for genetic disease

Marni J. Falk, R. Beth Dugan, Mary Ann O'Riordan, Anne L. Matthews, Nathaniel H. Robin

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 75 KB

english, 2003

13

95 A mouse model of Parkinson’s Disease based on CoQ deficiency

David L. Gasser, Marni J. Falk, Harry Ischiropoulos, Dana Bakalar, Julie A. Blendy

Journal:

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

14

Mitochondrial Genomics: A Complex Field Now Coming of Age

McCormick, Elizabeth M., Muraresku, Colleen C., Falk, Marni J.

Journal:

Current Genetic Medicine Reports

Year:

2018

Language:

english

File:

PDF, 1.25 MB

english, 2018

15

Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans

McCormack, Shana, Polyak, Erzsebet, Ostrovsky, Julian, Dingley, Stephen D., Rao, Meera, Kwon, Young Joon, Xiao, Rui, Zhang, Zhe, Nakamaru-Ogiso, Eiko, Falk, Marni J.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.00 MB

english, 2015

16

48 PPAR signaling modulates metabolic consequences of coenzyme Q deficiency in Pdss2 mutant mice and is normalized by Probucol therapy

Marni J. Falk, Zhe Zhang, Erzsebet Polyak, Ezinne Y. Okwuego, David L. Gasser

Journal:

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

17

49 Mitochondrial respiratory chain dysfunction variably increases in vivo oxidant stress in C. elegans

Stephen Dingley, Erzsebet Polyak, Richard Lightfoot, Meera Rao, Julian Ostrovsky, Harry Ischiropoulos, Marni J. Falk

Journal:

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

18

BCoR-L1: an X-linked transcriptional co-repressor in which mutations cause multi-systemic mitochondrial disease with mtDNA depletion

Sheldon, Claire A., Polyak, Erzsebet, Tsukikawa, Mai, McCormick, Elizabeth, Place, Emily, Consugar, Marc, Pierce, Eric, Gai, Xiaowu, Falk, Marni J.

Journal:

Year:

2013

Language:

english

File:

PDF, 51 KB

english, 2013

19

130 Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy

Zhe Zhang, David L. Gasser, Eric F. Rappaport, Marni J. Falk

Journal:

Year:

2010

Language:

english

File:

PDF, 55 KB

english, 2010

20

76 In vivo metabolic flux profiling using stable isotopes discriminates mitochondrial dysfunction in C. elegans

Meera Rao, Julian Ostrovsky, Evgueni Daikhin, Ilana Nissim, Itzhak Nissim, Marc Yudkoff, Marni J. Falk

Journal:

Year:

2010

Language:

english

File:

PDF, 47 KB

english, 2010

21

Best practices to convey complex information to patients with mitochondrial disease

McCormick, Elizabeth M., Muraresku, Colleen C., Falk, Marni J.

Journal:

Year:

2015

Language:

english

File:

PDF, 48 KB

english, 2015

22

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

Karaa, Amel, Rahman, Shamima, Lombès, Anne, Yu-Wai-Man, Patrick, Sheikh, Muniza K., Alai-Hansen, Sherita, Cohen, Bruce H., Dimmock, David, Emrick, Lisa, Falk, Marni J., McCormack, Shana, Mirsky, David

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 410 KB

english, 2017

23

Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

Karaa, Amel, Rahman, Shamima, Lombès, Anne, Yu-Wai-Man, Patrick, Sheikh, Muniza K., Alai-Hansen, Sherita, Cohen, Bruce H., Dimmock, David, Emrick, Lisa, Falk, Marni J., McCormack, Shana, Mirsky, David

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 274 KB

english, 2018

24

Effects of complex IV defects on respiration and lifespan in C. elegans

Wichit Suthammarak, Marni J. Falk, Margaret M. Sedensky, Phil G. Morgan

Journal:

Year:

2006

Language:

english

File:

PDF, 55 KB

english, 2006

25

NMNAT1 mutations cause Leber congenital amaurosis

Falk, Marni J, Zhang, Qi, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Fonseca-Kelly, Zoe, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Staniszewska, Ma

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 537 KB

english, 2012

26

Mitochondrial disorders and the eye

Schrier, Samantha A., Falk, Marni J.

Journal:

Current Opinion in Ophthalmology

Year:

2011

Language:

english

File:

PDF, 172 KB

english, 2011

27

Mitochondrial function requires NGLY1

Kong, Jianping, Peng, Min, Ostrovsky, Julian, Kwon, Young Joon, Oretsky, Olga, McCormick, Elizabeth, He, Miao, Argon, Yair, Falk, Marni J.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.62 MB

english, 2017

28

N -acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease

Polyak, Erzsebet, Ostrovsky, Julian, Peng, Min, Dingley, Stephen D., Tsukikawa, Mai, Kwon, Young Joon, McCormack, Shana E., Bennett, Michael, Xiao, Rui, Seiler, Christoph, Zhang, Zhe, Falk, Marni J.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 1.47 MB

english, 2018

29

MSeqDR mvTool: A mitochondrial DNA web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion

Shen, Lishuang, Attimonelli, Marcella, Bai, Renkui, Lott, Marie T., Wallace, Douglas C., Falk, Marni J., Gai, Xiaowu

Journal:

Year:

2018

Language:

english

File:

PDF, 671 KB

english, 2018

30

A novel mutation in the SLC25A12 gene causing mitochondrial aspartate/glutamate carrier 1 (AGC1) deficiency

Falk, Marni J., Lasorsa, Francesco M., Li, Dong, Gai, Xiaowu, McCormick, Elizabeth, Place, Emily, Otieno, Frederick G., Hou, Cuiping, Kim, Cecilia E., Abdel-Magid, Nada, Vazquez, Lyam, Mentch, Frank D

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2014

Language:

english

File:

PDF, 60 KB

english, 2014

31

The circadian gene rev-erbα improves cellular bioenergetics and provides preconditioning for protection against oxidative stress

Sengupta, Shaon, Yang, Guang, O’Donnell, John C, Hinson, Maurice D, McCormack, Shana E, Falk, Marni J, La, Ping, Robinson, Michael B, Williams, Monica L, Yohannes, Mekdes T, Polyak, Erzsebet, Nakamaru

Journal:

Free Radical Biology and Medicine

Year:

2016

Language:

english

File:

PDF, 2.20 MB

english, 2016

32

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression

Falk, Marni J., Gai, Xiaowu, Shigematsu, Megumi, Vilardo, Elisa, Takase, Ryuichi, McCormick, Elizabeth, Christian, Thomas, Place, Emily, Pierce, Eric A., Consugar, Mark, Gamper, Howard B., Rossmanith,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.92 MB

english, 2016

33

Risk factors for poor bone health in primary mitochondrial disease

Gandhi, Shifa S., Muraresku, Colleen, McCormick, Elizabeth M., Falk, Marni J., McCormack, Shana E.

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 336 KB

english, 2017

34

Subcomplex Iλ Specifically Controls Integrated Mitochondrial Functions in Caenorhabditis elegans

Falk, Marni J., Rosenjack, Julie R., Polyak, Erzsebet, Suthammarak, Wichit, Chen, Zhongxue, Morgan, Phil G., Sedensky, Margaret M., Goldman, Gustavo

Journal:

Year:

2009

Language:

english

File:

PDF, 715 KB

english, 2009

35

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy (MOTOR trial)

Madsen, Karen L., Buch, Astrid E., Cohen, Bruce H., Falk, Marni J., Goldsberry, Angela, Goldstein, Amy, Karaa, Amel, Koenig, Mary K., Muraresku, Colleen C., Meyer, Colin, O'Grady, Megan, Scaglia, Fern

Journal:

Year:

2020

File:

PDF, 810 KB

2020

36

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Falk, Marni J., Shen, Lishuang, Gonzalez, Michael, Leipzig, Jeremy, Lott, Marie T., Stassen, Alphons P.M., Diroma, Maria Angela, Navarro-Gomez, Daniel, Yeske, Philip, Bai, Renkui, Boles, Richard G., B

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 2.26 MB

english, 2015

37

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

38

Cohen syndrome in the Ohio Amish

Marni J. Falk, Heidi S. Feiler, Derek E. Neilson, Kathleen Maxwell, James V. Lee, Samantha K. Segall, Nathaniel H. Robin, Kirk C. Wilhelmsen, Ann-Liz Träskelin, Juha Kolehmainen, Anna-Elina Lehesjoki,

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 114 KB

english, 2004

39

Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy

Zhe Zhang, David L. Gasser, Eric F. Rappaport, Marni J. Falk

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 989 KB

english, 2010

40

Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction

Zhang, Zhe, Falk, Marni J.

Journal:

The International Journal of Biochemistry & Cell Biology

Year:

2014

Language:

english

File:

PDF, 1.61 MB

english, 2014

41

Introduction: Emerging research in mitochondrial disease

Journal:

Development Diabilities Research Reviews

Year:

2010

Language:

english

File:

PDF, 39 KB

english, 2010

42

Mitochondrial Complex I Function Modulates Volatile Anesthetic Sensitivity in C. elegans

Marni J. Falk, Ernst-Bernhard Kayser, Philip G. Morgan, Margaret M. Sedensky

Journal:

Current Biology

Year:

2006

Language:

english

File:

PDF, 299 KB

english, 2006

43

PARP-1 Inhibition Rescues Short Lifespan in Hyperglycemic C. Elegans And Improves GLP-1 Secretion in Human Cells

Xia, Qianghua, Lu, Sumei, Ostrovsky, Julian, McCormack, Shana E, Falk, Marni J, Grant, Struan F. A

Journal:

Aging and Disease

Year:

2018

Language:

english

File:

PDF, 1.29 MB

english, 2018

44

Bacteria, yeast, worms, and flies: Exploiting simple model organisms to investigate human mitochondrial diseases

Shane L. Rea, Brett H. Graham, Eiko Nakamaru-Ogiso, Adwitiya Kar, Marni J. Falk

Journal:

Development Diabilities Research Reviews

Year:

2010

Language:

english

File:

PDF, 1.61 MB

english, 2010

45

Integrative analysis of independent transcriptome data for rare diseases

Zhang, Zhe, Hailat, Zeyad, Falk, Marni J., Chen, Xue-wen

Journal:

Year:

2014

Language:

english

File:

PDF, 1.99 MB

english, 2014

46

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

47

Endocrine Disorders in Primary Mitochondrial Disease

Al-Gadi, Iman S, Haas, Richard H, Falk, Marni J, Goldstein, Amy, McCormack, Shana E

Journal:

Journal of the Endocrine Society

Year:

2018

Language:

english

File:

PDF, 153 KB

english, 2018

48

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

Li, Dong, Bhoj, Elizabeth, McCormick, Elizabeth, Wang, Fengxiang, Snyder, James, Wang, Tiancheng, Zhao, Yan, Kim, Cecilia, Chiavacci, Rosetta, Tian, Lifeng, Falk, Marni J., Hakonarson, Hakon

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 1.19 MB

english, 2016

49

Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: Evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism

Randy J. Chandler, Vijay Aswani, Matthew S. Tsai, Marni Falk, Natasha Wehrli, Sally Stabler, Robert Allen, Margaret Sedensky, Haig H. Kazazian, Charles P. Venditti

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 423 KB

english, 2006

50

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base

Camp, Kathryn M., Krotoski, Danuta, Parisi, Melissa A., Gwinn, Katrina A., Cohen, Bruce H., Cox, Christine S., Enns, Gregory M., Falk, Marni J., Goldstein, Amy C., Gopal-Srivastava, Rashmi, Gorman, Gr

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 704 KB

english, 2016

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