Etiology
Kleefeld F,
Horvath R,
Pinal-Fernandez I,
Mammen AL,
Casal-Dominguez M,
Hathazi D,
Melchert S,
Hahn K,
Sickmann A,
Muselmann-Genschow C,
Hentschel A,
Preuße C,
Roos A,
Schoser B,
Stenzel W
Acta Neuropathol
2024 Jan 19;147(1):19.
doi: 10.1007/s00401-023-02673-y.
PMID: 38240888Free PMC Article
Chen Y,
Jiao D,
Liu Y,
Xu X,
Wang Y,
Luo X,
Saiyin H,
Li Y,
Gao K,
Chen Y,
Zhao SM,
Ma L,
Wang C
Cell Death Differ
2023 Oct;30(10):2351-2363.
Epub 2023 Aug 11
doi: 10.1038/s41418-023-01205-1.
PMID: 37568009Free PMC Article
Weksler-Zangen S
Cells
2022 May 12;11(10)
doi: 10.3390/cells11101617.
PMID: 35626654Free PMC Article
van de Wal MAE,
Adjobo-Hermans MJW,
Keijer J,
Schirris TJJ,
Homberg JR,
Wieckowski MR,
Grefte S,
van Schothorst EM,
van Karnebeek C,
Quintana A,
Koopman WJH
Brain
2022 Mar 29;145(1):45-63.
doi: 10.1093/brain/awab426.
PMID: 34849584Free PMC Article
Salminen A,
Kaarniranta K,
Kauppinen A,
Ojala J,
Haapasalo A,
Soininen H,
Hiltunen M
Prog Neurobiol
2013 Jul-Aug;106-107:33-54.
Epub 2013 Jul 1
doi: 10.1016/j.pneurobio.2013.06.002.
PMID: 23827971
Diagnosis
Bölsterli BK,
Boltshauser E,
Palmieri L,
Spenger J,
Brunner-Krainz M,
Distelmaier F,
Freisinger P,
Geis T,
Gropman AL,
Häberle J,
Hentschel J,
Jeandidier B,
Karall D,
Keren B,
Klabunde-Cherwon A,
Konstantopoulou V,
Kottke R,
Lasorsa FM,
Makowski C,
Mignot C,
O'Gorman Tuura R,
Porcelli V,
Santer R,
Sen K,
Steinbrücker K,
Syrbe S,
Wagner M,
Ziegler A,
Zöggeler T,
Mayr JA,
Prokisch H,
Wortmann SB
Nutrients
2022 Aug 31;14(17)
doi: 10.3390/nu14173605.
PMID: 36079864Free PMC Article
Weksler-Zangen S
Cells
2022 May 12;11(10)
doi: 10.3390/cells11101617.
PMID: 35626654Free PMC Article
Roszczyc-Owsiejczuk K,
Zabielski P
Front Endocrinol (Lausanne)
2021;12:635175.
Epub 2021 Mar 18
doi: 10.3389/fendo.2021.635175.
PMID: 33815291Free PMC Article
González-Gualda E,
Baker AG,
Fruk L,
Muñoz-Espín D
FEBS J
2021 Jan;288(1):56-80.
Epub 2020 Oct 10
doi: 10.1111/febs.15570.
PMID: 32961620
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
Therapy
Yang K,
Gao R,
Chen H,
Hu J,
Zhang P,
Wei X,
Shi J,
Chen Y,
Zhang L,
Chen J,
Lyu Y,
Dong Z,
Wei W,
Hu K,
Guo Y,
Ge J,
Sun A
Eur Heart J
2024 May 13;45(18):1662-1680.
doi: 10.1093/eurheartj/ehae205.
PMID: 38666340Free PMC Article
Hallakou-Bozec S,
Vial G,
Kergoat M,
Fouqueray P,
Bolze S,
Borel AL,
Fontaine E,
Moller DE
Diabetes Obes Metab
2021 Mar;23(3):664-673.
Epub 2020 Dec 29
doi: 10.1111/dom.14277.
PMID: 33269554Free PMC Article
Elia M,
Klepper J,
Leiendecker B,
Hartmann H
Curr Pharm Des
2017;23(37):5691-5701.
doi: 10.2174/1381612823666170809101517.
PMID: 28799513
Scholl-Bürgi S,
Höller A,
Pichler K,
Michel M,
Haberlandt E,
Karall D
J Inherit Metab Dis
2015 Jul;38(4):765-73.
Epub 2015 Jun 25
doi: 10.1007/s10545-015-9872-2.
PMID: 26109259
Kępka A,
Chojnowska S,
Okungbowa OE,
Zwierz K
Dev Period Med
2014 Oct-Dec;18(4):417-25.
PMID: 25874778
Prognosis
Yang K,
Gao R,
Chen H,
Hu J,
Zhang P,
Wei X,
Shi J,
Chen Y,
Zhang L,
Chen J,
Lyu Y,
Dong Z,
Wei W,
Hu K,
Guo Y,
Ge J,
Sun A
Eur Heart J
2024 May 13;45(18):1662-1680.
doi: 10.1093/eurheartj/ehae205.
PMID: 38666340Free PMC Article
Zhang S,
Zhang Y,
Duan X,
Wang B,
Zhan Z
Circulation
2024 Jun 18;149(25):1982-2001.
Epub 2024 Feb 23
doi: 10.1161/CIRCULATIONAHA.123.065506.
PMID: 38390737Free PMC Article
Skopkova M,
Stufkova H,
Rambani V,
Stranecky V,
Brennerova K,
Kolnikova M,
Pietrzykova M,
Karhanek M,
Noskova L,
Tesarova M,
Hansikova H,
Gasperikova D
Orphanet J Rare Dis
2023 Apr 24;18(1):92.
doi: 10.1186/s13023-023-02689-3.
PMID: 37095554Free PMC Article
van de Wal MAE,
Adjobo-Hermans MJW,
Keijer J,
Schirris TJJ,
Homberg JR,
Wieckowski MR,
Grefte S,
van Schothorst EM,
van Karnebeek C,
Quintana A,
Koopman WJH
Brain
2022 Mar 29;145(1):45-63.
doi: 10.1093/brain/awab426.
PMID: 34849584Free PMC Article
Baechler SA,
Factor VM,
Dalla Rosa I,
Ravji A,
Becker D,
Khiati S,
Miller Jenkins LM,
Lang M,
Sourbier C,
Michaels SA,
Neckers LM,
Zhang HL,
Spinazzola A,
Huang SN,
Marquardt JU,
Pommier Y
Nat Commun
2019 Jan 8;10(1):83.
doi: 10.1038/s41467-018-07922-3.
PMID: 30622257Free PMC Article
Clinical prediction guides
Yang K,
Gao R,
Chen H,
Hu J,
Zhang P,
Wei X,
Shi J,
Chen Y,
Zhang L,
Chen J,
Lyu Y,
Dong Z,
Wei W,
Hu K,
Guo Y,
Ge J,
Sun A
Eur Heart J
2024 May 13;45(18):1662-1680.
doi: 10.1093/eurheartj/ehae205.
PMID: 38666340Free PMC Article
Kotschi S,
Jung A,
Willemsen N,
Ofoghi A,
Proneth B,
Conrad M,
Bartelt A
Mol Metab
2022 Mar;57:101436.
Epub 2022 Jan 6
doi: 10.1016/j.molmet.2022.101436.
PMID: 34999280Free PMC Article
Ale-Agha N,
Jakobs P,
Goy C,
Zurek M,
Rosen J,
Dyballa-Rukes N,
Metzger S,
Greulich J,
von Ameln F,
Eckermann O,
Unfried K,
Brack F,
Grandoch M,
Thielmann M,
Kamler M,
Gedik N,
Kleinbongard P,
Heinen A,
Heusch G,
Gödecke A,
Altschmied J,
Haendeler J
Circulation
2021 Dec 7;144(23):1876-1890.
Epub 2021 Oct 21
doi: 10.1161/CIRCULATIONAHA.120.051923.
PMID: 34672678
Hallakou-Bozec S,
Vial G,
Kergoat M,
Fouqueray P,
Bolze S,
Borel AL,
Fontaine E,
Moller DE
Diabetes Obes Metab
2021 Mar;23(3):664-673.
Epub 2020 Dec 29
doi: 10.1111/dom.14277.
PMID: 33269554Free PMC Article
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