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Author/Creator Falk, Marni J

1. Combinatorial glucose, nicotinic acid and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease. Issue 7 (27th February 2021)

Authors:
Guha, Sujay; Mathew, Neal D; Konkwo, Chigoziri; Ostrovsky, Julian; Kwon, Young Joon; Polyak, Erzsebet; Seiler, Christoph; Bennett, Michael; Xiao, Rui; Zhang, Zhe; Nakamaru-Ogiso, Eiko; Falk, Marni J
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 7(2021)
Page Start:
536
Record Type:
Journal Article
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2. Diagnosis of 'possible' mitochondrial disease: an existential crisis. Issue 3 (25th January 2019)

Authors:
Parikh, Sumit; Karaa, Amel; Goldstein, Amy; Bertini, Enrico Silvio; Chinnery, Patrick F; Christodoulou, John; Cohen, Bruce H; Davis, Ryan L; Falk, Marni J; Fratter, Carl; Horvath, Rita; Koenig, Mary Kay; Mancuso, Michaelangelo; McCormack, Shana; McCormick, Elizabeth M; McFarland, Robert; Nesbitt,...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 3(2019)
Page Start:
123
Record Type:
Journal Article
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3. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients. Issue 12 (30th September 2015)

Authors:
Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; Orteschi, Daniela; Ricciardi, Stefania; Lattante, Serena; Murdolo, Marina; Battaglia, Domenica; Contaldo, Ilaria; Mercuri, Eugenio; Stefanini, Maria Chiara; Caumes, Roseline; Edery, Patrick; Rossi, Massimiliano; Piccione, Maria; Corsello, Gio...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 12(2015)
Page Start:
804
Record Type:
Journal Article
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5. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. Issue 2 (20th November 2014)

Authors:
Kruszka, Paul; Li, Dong; Harr, Margaret H; Wilson, Nathan R; Swarr, Daniel; McCormick, Elizabeth M; Chiavacci, Rosetta M; Li, Mindy; Martinez, Ariel F; Hart, Rachel A; McDonald-McGinn, Donna M; Deardorff, Matthew A; Falk, Marni J; Allanson, Judith E; Hudson, Cindy; Johnson, John P; Saadi, Irfan; ...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 2(2015)
Page Start:
104
Record Type:
Journal Article
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6. Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease. (22nd January 2019)

Authors:
Guha, Sujay; Konkwo, Chigoziri; Lavorato, Manuela; Mathew, Neal D; Peng, Min; Ostrovsky, Julian; Kwon, Young-Joon; Polyak, Erzsebet; Lightfoot, Richard; Seiler, Christoph; Xiao, Rui; Bennett, Michael; Zhang, Zhe; Nakamaru-Ogiso, Eiko; Falk, Marni J
Journal:
Human molecular genetics
Issue:
Volume 28:Number 11(2019)
Page Start:
1837
Record Type:
Journal Article
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7. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. Issue 10 (11th July 2013)

Authors:
Bannwarth, Sylvie; Procaccio, Vincent; Lebre, Anne Sophie; Jardel, Claude; Chaussenot, Annabelle; Hoarau, Claire; Maoulida, Hassani; Charrier, Nathanaël; Gai, Xiaowu; Xie, Hongbo M; Ferre, Marc; Fragaki, Konstantina; Hardy, Gaëlle; Mousson de Camaret, Bénédicte; Marlin, Sandrine; Dhaenens, Claire...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 10(2013)
Page Start:
704
Record Type:
Journal Article
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8. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. (18th June 2018)

Authors:
Barca, Emanuele; Ganetzky, Rebecca D; Potluri, Prasanth; Juanola-Falgarona, Marti; Gai, Xiaowu; Li, Dong; Jalas, Chaim; Hirsch, Yoel; Emmanuele, Valentina; Tadesse, Saba; Ziosi, Marcello; Akman, Hasan O; Chung, Wendy K; Tanji, Kurenai; McCormick, Elizabeth M; Place, Emily; Consugar, Mark; Pierce,...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 19(2018:Oct. 01)
Page Start:
3305
Record Type:
Journal Article
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