Etiology
Rothwell S,
Lilleker JB,
Lamb JA
Curr Opin Rheumatol
2017 Nov;29(6):639-644.
doi: 10.1097/BOR.0000000000000431.
PMID: 28777108Free PMC Article
McMillin JB,
Dowhan W
Biochim Biophys Acta
2002 Dec 30;1585(2-3):97-107.
doi: 10.1016/s1388-1981(02)00329-3.
PMID: 12531542
Schapira AH
Curr Opin Neurol
2000 Oct;13(5):527-32.
doi: 10.1097/00019052-200010000-00004.
PMID: 11073358
DiMauro S,
Moraes CT
Arch Neurol
1993 Nov;50(11):1197-208.
doi: 10.1001/archneur.1993.00540110075008.
PMID: 8215979
DiMauro S,
Bonilla E,
Zeviani M,
Servidei S,
DeVivo DC,
Schon EA
J Inherit Metab Dis
1987;10 Suppl 1:113-28.
doi: 10.1007/BF01812852.
PMID: 2824920
Diagnosis
Rak M,
Bénit P,
Chrétien D,
Bouchereau J,
Schiff M,
El-Khoury R,
Tzagoloff A,
Rustin P
Clin Sci (Lond)
2016 Mar;130(6):393-407.
doi: 10.1042/CS20150707.
PMID: 26846578Free PMC Article
Chen Z,
Zhong C
Prog Neurobiol
2013 Sep;108:21-43.
Epub 2013 Jul 11
doi: 10.1016/j.pneurobio.2013.06.004.
PMID: 23850509
Schmiedel J,
Jackson S,
Schäfer J,
Reichmann H
J Neurol
2003 Mar;250(3):267-77.
doi: 10.1007/s00415-003-0978-3.
PMID: 12638015
Shoubridge EA
Am J Med Genet
2001 Spring;106(1):46-52.
doi: 10.1002/ajmg.1378.
PMID: 11579424
DiMauro S,
Moraes CT
Arch Neurol
1993 Nov;50(11):1197-208.
doi: 10.1001/archneur.1993.00540110075008.
PMID: 8215979
Therapy
Potthast AB,
Heuer T,
Warneke SJ,
Das AM
PLoS One
2017;12(10):e0186517.
Epub 2017 Oct 23
doi: 10.1371/journal.pone.0186517.
PMID: 29059204Free PMC Article
Ambang T,
Tan JS,
Ong S,
Wong KT,
Goh KJ
PLoS One
2016;11(9):e0162760.
Epub 2016 Sep 9
doi: 10.1371/journal.pone.0162760.
PMID: 27611456Free PMC Article
Lalioti V,
Muruais G,
Tsuchiya Y,
Pulido D,
Sandoval IV
Front Biosci (Landmark Ed)
2009 Jun 1;14(13):4878-903.
doi: 10.2741/3575.
PMID: 19482593
Schapira AH
Curr Opin Neurol
2000 Oct;13(5):527-32.
doi: 10.1097/00019052-200010000-00004.
PMID: 11073358
Müller-Höcker J
Brain Pathol
1992 Apr;2(2):149-58.
doi: 10.1111/j.1750-3639.1992.tb00683.x.
PMID: 1341956
Prognosis
Switzer CH,
Kasamatsu S,
Ihara H,
Eaton P
Proc Natl Acad Sci U S A
2023 Jan 17;120(3):e2205044120.
Epub 2023 Jan 11
doi: 10.1073/pnas.2205044120.
PMID: 36630448Free PMC Article
Bonora E,
Chakrabarty S,
Kellaris G,
Tsutsumi M,
Bianco F,
Bergamini C,
Ullah F,
Isidori F,
Liparulo I,
Diquigiovanni C,
Masin L,
Rizzardi N,
Cratere MG,
Boschetti E,
Papa V,
Maresca A,
Cenacchi G,
Casadio R,
Martelli P,
Matera I,
Ceccherini I,
Fato R,
Raiola G,
Arrigo S,
Signa S,
Sementa AR,
Severino M,
Striano P,
Fiorillo C,
Goto T,
Uchino S,
Oyazato Y,
Nakamura H,
Mishra SK,
Yeh YS,
Kato T,
Nozu K,
Tanboon J,
Morioka I,
Nishino I,
Toda T,
Goto YI,
Ohtake A,
Kosaki K,
Yamaguchi Y,
Nonaka I,
Iijima K,
Mimaki M,
Kurahashi H,
Raams A,
MacInnes A,
Alders M,
Engelen M,
Linthorst G,
de Koning T,
den Dunnen W,
Dijkstra G,
van Spaendonck K,
van Gent DC,
Aronica EM,
Picco P,
Carelli V,
Seri M,
Katsanis N,
Duijkers FAM,
Taniguchi-Ikeda M,
De Giorgio R
Brain
2021 Jun 22;144(5):1451-1466.
doi: 10.1093/brain/awab056.
PMID: 33855352
Simard ML,
Mourier A,
Greaves LC,
Taylor RW,
Stewart JB
J Pathol
2018 Jul;245(3):311-323.
Epub 2018 May 14
doi: 10.1002/path.5084.
PMID: 29660116Free PMC Article
Rak M,
Bénit P,
Chrétien D,
Bouchereau J,
Schiff M,
El-Khoury R,
Tzagoloff A,
Rustin P
Clin Sci (Lond)
2016 Mar;130(6):393-407.
doi: 10.1042/CS20150707.
PMID: 26846578Free PMC Article
Percival SS
Am J Clin Nutr
1998 May;67(5 Suppl):1064S-1068S.
doi: 10.1093/ajcn/67.5.1064S.
PMID: 9587153
Clinical prediction guides
Choong CJ,
Okuno T,
Ikenaka K,
Baba K,
Hayakawa H,
Koike M,
Yokota M,
Doi J,
Kakuda K,
Takeuchi T,
Kuma A,
Nakamura S,
Nagai Y,
Nagano S,
Yoshimori T,
Mochizuki H
Autophagy
2021 Oct;17(10):2962-2974.
Epub 2020 Dec 10
doi: 10.1080/15548627.2020.1848130.
PMID: 33218272Free PMC Article
Potthast AB,
Heuer T,
Warneke SJ,
Das AM
PLoS One
2017;12(10):e0186517.
Epub 2017 Oct 23
doi: 10.1371/journal.pone.0186517.
PMID: 29059204Free PMC Article
Rak M,
Bénit P,
Chrétien D,
Bouchereau J,
Schiff M,
El-Khoury R,
Tzagoloff A,
Rustin P
Clin Sci (Lond)
2016 Mar;130(6):393-407.
doi: 10.1042/CS20150707.
PMID: 26846578Free PMC Article
Percival SS
Am J Clin Nutr
1998 May;67(5 Suppl):1064S-1068S.
doi: 10.1093/ajcn/67.5.1064S.
PMID: 9587153
Müller-Höcker J
Brain Pathol
1992 Apr;2(2):149-58.
doi: 10.1111/j.1750-3639.1992.tb00683.x.
PMID: 1341956