Etiology
Karaa A,
Bertini E,
Carelli V,
Cohen BH,
Enns GM,
Falk MJ,
Goldstein A,
Gorman GS,
Haas R,
Hirano M,
Klopstock T,
Koenig MK,
Kornblum C,
Lamperti C,
Lehman A,
Longo N,
Molnar MJ,
Parikh S,
Phan H,
Pitceathly RDS,
Saneto R,
Scaglia F,
Servidei S,
Tarnopolsky M,
Toscano A,
Van Hove JLK,
Vissing J,
Vockley J,
Finman JS,
Brown DA,
Shiffer JA,
Mancuso M;
MMPOWER-3 Trial Investigators
Neurology
2023 Jul 18;101(3):e238-e252.
Epub 2023 Jun 2
doi: 10.1212/WNL.0000000000207402.
PMID: 37268435Free PMC Article
Vara R,
Pinon M,
Fratter C,
Hegarty R,
Hadzic N
J Inherit Metab Dis
2023 Jul;46(4):634-648.
Epub 2023 May 28
doi: 10.1002/jimd.12633.
PMID: 37204315
Longchamps RJ,
Yang SY,
Castellani CA,
Shi W,
Lane J,
Grove ML,
Bartz TM,
Sarnowski C,
Liu C,
Burrows K,
Guyatt AL,
Gaunt TR,
Kacprowski T,
Yang J,
De Jager PL,
Yu L,
Bergman A,
Xia R,
Fornage M,
Feitosa MF,
Wojczynski MK,
Kraja AT,
Province MA,
Amin N,
Rivadeneira F,
Tiemeier H,
Uitterlinden AG,
Broer L,
Van Meurs JBJ,
Van Duijn CM,
Raffield LM,
Lange L,
Rich SS,
Lemaitre RN,
Goodarzi MO,
Sitlani CM,
Mak ACY,
Bennett DA,
Rodriguez S,
Murabito JM,
Lunetta KL,
Sotoodehnia N,
Atzmon G,
Ye K,
Barzilai N,
Brody JA,
Psaty BM,
Taylor KD,
Rotter JI,
Boerwinkle E,
Pankratz N,
Arking DE
Hum Genet
2022 Jan;141(1):127-146.
Epub 2021 Dec 2
doi: 10.1007/s00439-021-02394-w.
PMID: 34859289Free PMC Article
Ramón J,
Vila-Julià F,
Molina-Granada D,
Molina-Berenguer M,
Melià MJ,
García-Arumí E,
Torres-Torronteras J,
Cámara Y,
Martí R
Int J Mol Sci
2021 Jun 16;22(12)
doi: 10.3390/ijms22126447.
PMID: 34208592Free PMC Article
Oller J,
Gabandé-Rodríguez E,
Ruiz-Rodríguez MJ,
Desdín-Micó G,
Aranda JF,
Rodrigues-Diez R,
Ballesteros-Martínez C,
Blanco EM,
Roldan-Montero R,
Acuña P,
Forteza Gil A,
Martín-López CE,
Nistal JF,
Lino Cardenas CL,
Lindsay ME,
Martín-Ventura JL,
Briones AM,
Redondo JM,
Mittelbrunn M
Circulation
2021 May 25;143(21):2091-2109.
Epub 2021 Mar 12
doi: 10.1161/CIRCULATIONAHA.120.051171.
PMID: 33709773Free PMC Article
Diagnosis
Samanta A,
Srivastava A,
Mandal K,
Sarma MS,
Poddar U
Indian J Gastroenterol
2023 Aug;42(4):569-574.
Epub 2023 Feb 8
doi: 10.1007/s12664-022-01281-0.
PMID: 36753038
Domínguez-González C,
Madruga-Garrido M,
Hirano M,
Martí I,
Martín MA,
Munell F,
Nascimento A,
Olivé M,
Quan J,
Sardina MD,
Martí R,
Paradas C
Orphanet J Rare Dis
2021 Oct 2;16(1):407.
doi: 10.1186/s13023-021-02030-w.
PMID: 34600563Free PMC Article
Ramón J,
Vila-Julià F,
Molina-Granada D,
Molina-Berenguer M,
Melià MJ,
García-Arumí E,
Torres-Torronteras J,
Cámara Y,
Martí R
Int J Mol Sci
2021 Jun 16;22(12)
doi: 10.3390/ijms22126447.
PMID: 34208592Free PMC Article
Shimura M,
Kuranobu N,
Ogawa-Tominaga M,
Akiyama N,
Sugiyama Y,
Ebihara T,
Fushimi T,
Ichimoto K,
Matsunaga A,
Tsuruoka T,
Kishita Y,
Umetsu S,
Inui A,
Fujisawa T,
Tanikawa K,
Ito R,
Fukuda A,
Murakami J,
Kaji S,
Kasahara M,
Shiraki K,
Ohtake A,
Okazaki Y,
Murayama K
Orphanet J Rare Dis
2020 Jul 24;15(1):169.
doi: 10.1186/s13023-020-01441-5.
PMID: 32703289Free PMC Article
Wong LJ
Mitochondrion
2007 Feb-Apr;7(1-2):45-52.
Epub 2006 Dec 12
doi: 10.1016/j.mito.2006.11.025.
PMID: 17276740
Therapy
Karaa A,
Bertini E,
Carelli V,
Cohen BH,
Enns GM,
Falk MJ,
Goldstein A,
Gorman GS,
Haas R,
Hirano M,
Klopstock T,
Koenig MK,
Kornblum C,
Lamperti C,
Lehman A,
Longo N,
Molnar MJ,
Parikh S,
Phan H,
Pitceathly RDS,
Saneto R,
Scaglia F,
Servidei S,
Tarnopolsky M,
Toscano A,
Van Hove JLK,
Vissing J,
Vockley J,
Finman JS,
Brown DA,
Shiffer JA,
Mancuso M;
MMPOWER-3 Trial Investigators
Neurology
2023 Jul 18;101(3):e238-e252.
Epub 2023 Jun 2
doi: 10.1212/WNL.0000000000207402.
PMID: 37268435Free PMC Article
Gordon N
Dev Med Child Neurol
2006 Dec;48(12):1001-3.
doi: 10.1017/S0012162206002209.
PMID: 17109792
Jones SP,
Qazi N,
Morelese J,
Lebrecht D,
Sutinen J,
Yki-Jărvinen H,
Back DJ,
Pirmohamed M,
Gazzard BG,
Walker UA,
Moyle GJ
J Acquir Immune Defic Syndr
2005 Dec 15;40(5):565-72.
doi: 10.1097/01.qai.0000187443.30838.3e.
PMID: 16284533
Miró O,
López S,
Pedrol E,
Rodríguez-Santiago B,
Martínez E,
Soler A,
Milinkovic A,
Casademont J,
Nunes V,
Gatell JM,
Cardellach F
Antivir Ther
2003 Aug;8(4):333-8.
PMID: 14526764
Nolan D,
Hammond E,
Martin A,
Taylor L,
Herrmann S,
McKinnon E,
Metcalf C,
Latham B,
Mallal S
AIDS
2003 Jun 13;17(9):1329-38.
doi: 10.1097/00002030-200306130-00007.
PMID: 12799554
Prognosis
Samanta A,
Srivastava A,
Mandal K,
Sarma MS,
Poddar U
Indian J Gastroenterol
2023 Aug;42(4):569-574.
Epub 2023 Feb 8
doi: 10.1007/s12664-022-01281-0.
PMID: 36753038
Domínguez-González C,
Madruga-Garrido M,
Hirano M,
Martí I,
Martín MA,
Munell F,
Nascimento A,
Olivé M,
Quan J,
Sardina MD,
Martí R,
Paradas C
Orphanet J Rare Dis
2021 Oct 2;16(1):407.
doi: 10.1186/s13023-021-02030-w.
PMID: 34600563Free PMC Article
Shimura M,
Kuranobu N,
Ogawa-Tominaga M,
Akiyama N,
Sugiyama Y,
Ebihara T,
Fushimi T,
Ichimoto K,
Matsunaga A,
Tsuruoka T,
Kishita Y,
Umetsu S,
Inui A,
Fujisawa T,
Tanikawa K,
Ito R,
Fukuda A,
Murakami J,
Kaji S,
Kasahara M,
Shiraki K,
Ohtake A,
Okazaki Y,
Murayama K
Orphanet J Rare Dis
2020 Jul 24;15(1):169.
doi: 10.1186/s13023-020-01441-5.
PMID: 32703289Free PMC Article
Domínguez-González C,
Hernández-Laín A,
Rivas E,
Hernández-Voth A,
Sayas Catalán J,
Fernández-Torrón R,
Fuiza-Luces C,
García García J,
Morís G,
Olivé M,
Miralles F,
Díaz-Manera J,
Caballero C,
Méndez-Ferrer B,
Martí R,
García Arumi E,
Badosa MC,
Esteban J,
Jimenez-Mallebrera C,
Encinar AB,
Arenas J,
Hirano M,
Martin MÁ,
Paradas C
Orphanet J Rare Dis
2019 May 6;14(1):100.
doi: 10.1186/s13023-019-1071-z.
PMID: 31060578Free PMC Article
Mancuso M,
Filosto M,
Bonilla E,
Hirano M,
Shanske S,
Vu TH,
DiMauro S
Arch Neurol
2003 Jul;60(7):1007-9.
doi: 10.1001/archneur.60.7.1007.
PMID: 12873860
Clinical prediction guides
Karaa A,
Bertini E,
Carelli V,
Cohen BH,
Enns GM,
Falk MJ,
Goldstein A,
Gorman GS,
Haas R,
Hirano M,
Klopstock T,
Koenig MK,
Kornblum C,
Lamperti C,
Lehman A,
Longo N,
Molnar MJ,
Parikh S,
Phan H,
Pitceathly RDS,
Saneto R,
Scaglia F,
Servidei S,
Tarnopolsky M,
Toscano A,
Van Hove JLK,
Vissing J,
Vockley J,
Finman JS,
Brown DA,
Shiffer JA,
Mancuso M;
MMPOWER-3 Trial Investigators
Neurology
2023 Jul 18;101(3):e238-e252.
Epub 2023 Jun 2
doi: 10.1212/WNL.0000000000207402.
PMID: 37268435Free PMC Article
Samanta A,
Srivastava A,
Mandal K,
Sarma MS,
Poddar U
Indian J Gastroenterol
2023 Aug;42(4):569-574.
Epub 2023 Feb 8
doi: 10.1007/s12664-022-01281-0.
PMID: 36753038
Key J,
Gispert S,
Koornneef L,
Sleddens-Linkels E,
Kohli A,
Torres-Odio S,
Koepf G,
Amr S,
Reichlmeir M,
Harter PN,
West AP,
Münch C,
Baarends WM,
Auburger G
Cells
2022 Dec 22;12(1)
doi: 10.3390/cells12010052.
PMID: 36611846Free PMC Article
Kodani A,
Yamaguchi M,
Itoh R,
Huynh MA,
Yoshida H
Sci Rep
2022 Dec 31;12(1):22632.
doi: 10.1038/s41598-022-27329-x.
PMID: 36587049Free PMC Article
Chanprasert S,
Wang J,
Weng SW,
Enns GM,
Boué DR,
Wong BL,
Mendell JR,
Perry DA,
Sahenk Z,
Craigen WJ,
Alcala FJ,
Pascual JM,
Melancon S,
Zhang VW,
Scaglia F,
Wong LJ
Mol Genet Metab
2013 Sep-Oct;110(1-2):153-61.
Epub 2013 Jul 17
doi: 10.1016/j.ymgme.2013.07.009.
PMID: 23932787