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Author/Creator Falk, Marni J.

1. A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. Issue 5 (3rd May 2016)

Authors:
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, Walter; Hou, Ya-Ming
Journal:
RNA biology
Issue:
Volume 13:Issue 5(2016)
Page Start:
477
Record Type:
Journal Article
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3. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Issue 3 (16th March 2017)

Authors:
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; Moore, Tony; Parikh, Sumit; Shoffner, John; Taivassalo, Tanja; Tarnopolsky, Mark; Tein, Ingrid;...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 3(2017)
Page Start:
403
Record Type:
Journal Article
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4. Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. Issue 1 (19th December 2021)

Authors:
Karaa, Amel; MacMullen, Laura E.; Campbell, John C.; Christodoulou, John; Cohen, Bruce H.; Klopstock, Thomas; Koga, Yasutoshi; Lamperti, Costanza; van Maanen, Rob; McFarland, Robert; Parikh, Sumit; Rahman, Shamima; Scaglia, Fernando; Sherman, Alexander V.; Yeske, Philip; Falk, Marni J.
Journal:
Advanced genetics
Issue:
Volume 3:Issue 1(2022)
Page Start:
n/a
Record Type:
Journal Article
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5. Development of a Mitochondrial Myopathy‐Composite Assessment Tool. Issue 4 (30th August 2021)

Authors:
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, Laur...
Journal:
JCSM clinical reports
Issue:
Volume 6:Issue 4(2021)
Page Start:
109
Record Type:
Journal Article
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6. Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. (16th March 2016)

Authors:
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
Other Names:
Ban Yoshiyuki Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2016(2016)
Page Start:
Record Type:
Journal Article
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8. Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Issue 1 (4th October 2017)

Authors:
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; Moore, Tony; Parikh, Sumit; Shoffner, John; Taivassalo, Tanja; Tarnopolsky, Mark; Tein, Ingrid;...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 1(2018)
Page Start:
151
Record Type:
Journal Article
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9. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. Issue 6 (30th March 2021)

Authors:
Sheppard, Sarah E.; Campbell, Ian M.; Harr, Margaret H.; Gold, Nina; Li, Dong; Bjornsson, Hans T.; Cohen, Julie S.; Fahrner, Jill A.; Fatemi, Ali; Harris, Jacqueline R.; Nowak, Catherine; Stevens, Cathy A.; Grand, Katheryn; Au, Margaret; Graham, John M.; Sanchez‐Lara, Pedro A.; Campo, Miguel Del;...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 6(2021)
Page Start:
1649
Record Type:
Journal Article
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