Below are the most recent publications written about "Mitochondrial Diseases" by people in Profiles.
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Sturm G, Karan KR, Monzel AS, Santhanam B, Taivassalo T, Bris C, Ware SA, Cross M, Towheed A, Higgins-Chen A, McManus MJ, Cardenas A, Lin J, Epel ES, Rahman S, Vissing J, Grassi B, Levine M, Horvath S, Haller RG, Lenaers G, Wallace DC, St-Onge MP, Tavazoie S, Procaccio V, Kaufman BA, Seifert EL, Hirano M, Picard M. OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases. Commun Biol. 2023 01 12; 6(1):22.
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Kucherov V, Truong H, Raab C, Hagerty JA. Urologic Presentations and Management Options in Pediatric Mitochondrial Disease. Urology. 2022 06; 164:230-237.
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Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, S?bire G, Louren?o CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Str?mme P, de Grauw T, Gieruszczak-Bialek D, Kr?geloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melan?on S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, ?zkinay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, S?nderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, V?zquez-L?pez M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno G?, Polychronakos C, Wolf NI, Bernard G. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2021 01 23; 106(2):e660-e674.
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Suzuki T, Yashiro Y, Kikuchi I, Ishigami Y, Saito H, Matsuzawa I, Okada S, Mito M, Iwasaki S, Ma D, Zhao X, Asano K, Lin H, Kirino Y, Sakaguchi Y, Suzuki T. Complete chemical structures of human mitochondrial tRNAs. Nat Commun. 2020 08 28; 11(1):4269.
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Hwang MS, Britt CJ, Vila PM, Dang RP, Fleming SI, Patel AM, Paniello RC, Rich JT, Hanasono MM, Desai SC. Factors associated with skin graft take in fibula and radial forearm free flap donor sites. Am J Otolaryngol. 2020 Jul - Aug; 41(4):102536.
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Weiss SL, Zhang D, Bush J, Graham K, Starr J, Tuluc F, Henrickson S, Kilbaugh T, Deutschman CS, Murdock D, McGowan FX, Becker L, Wallace DC. Persistent Mitochondrial Dysfunction Linked to Prolonged Organ Dysfunction in Pediatric Sepsis. Crit Care Med. 2019 10; 47(10):1433-1441.
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Qian W, Kumar N, Roginskaya V, Fouquerel E, Opresko PL, Shiva S, Watkins SC, Kolodieznyi D, Bruchez MP, Van Houten B. Chemoptogenetic damage to mitochondria causes rapid telomere dysfunction. Proc Natl Acad Sci U S A. 2019 09 10; 116(37):18435-18444.
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Nikam RM, Gripp KW, Choudhary AK, Kandula V. Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy. Am J Med Genet A. 2018 12; 176(12):2787-2790.
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Majid H, Jafri L, Khan AH, Ali ZZ, Jamil A, Yusufzai N, Fatimah M, Afroze B. Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan. J Pak Med Assoc. 2018 Apr; 68(4):510-514.
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Kang E, Wu J, Gutierrez NM, Koski A, Tippner-Hedges R, Agaronyan K, Platero-Luengo A, Martinez-Redondo P, Ma H, Lee Y, Hayama T, Van Dyken C, Wang X, Luo S, Ahmed R, Li Y, Ji D, Kayali R, Cinnioglu C, Olson S, Jensen J, Battaglia D, Lee D, Wu D, Huang T, Wolf DP, Temiakov D, Belmonte JC, Amato P, Mitalipov S. Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. Nature. 2016 12 08; 540(7632):270-275.