Etiology
Deneubourg C,
Ramm M,
Smith LJ,
Baron O,
Singh K,
Byrne SC,
Duchen MR,
Gautel M,
Eskelinen EL,
Fanto M,
Jungbluth H
Autophagy
2022 Mar;18(3):496-517.
Epub 2021 Aug 19
doi: 10.1080/15548627.2021.1943177.
PMID: 34130600Free PMC Article
Miles EA,
Childs CE,
Calder PC
Nutrients
2021 Jan 16;13(1)
doi: 10.3390/nu13010247.
PMID: 33467123Free PMC Article
Rahman S
Epilepsy Behav
2019 Dec;101(Pt B):106546.
Epub 2019 Oct 31
doi: 10.1016/j.yebeh.2019.106546.
PMID: 31677997
Bragoszewski P,
Turek M,
Chacinska A
Open Biol
2017 Apr;7(4)
doi: 10.1098/rsob.170007.
PMID: 28446709Free PMC Article
Schapira AH
Curr Opin Neurol
2000 Oct;13(5):527-32.
doi: 10.1097/00019052-200010000-00004.
PMID: 11073358
Diagnosis
Rahman S
Handb Clin Neurol
2023;194:43-63.
doi: 10.1016/B978-0-12-821751-1.00015-4.
PMID: 36813320
Deneubourg C,
Ramm M,
Smith LJ,
Baron O,
Singh K,
Byrne SC,
Duchen MR,
Gautel M,
Eskelinen EL,
Fanto M,
Jungbluth H
Autophagy
2022 Mar;18(3):496-517.
Epub 2021 Aug 19
doi: 10.1080/15548627.2021.1943177.
PMID: 34130600Free PMC Article
Wang T,
Liu H,
Itoh K,
Oh S,
Zhao L,
Murata D,
Sesaki H,
Hartung T,
Na CH,
Wang J
Cell Metab
2021 Mar 2;33(3):531-546.e9.
Epub 2021 Feb 4
doi: 10.1016/j.cmet.2021.01.005.
PMID: 33545050Free PMC Article
El-Hattab AW,
Scaglia F
Cell Calcium
2016 Sep;60(3):199-206.
Epub 2016 Mar 4
doi: 10.1016/j.ceca.2016.03.003.
PMID: 26996063
Zeviani M,
Tiranti V,
Piantadosi C
Medicine (Baltimore)
1998 Jan;77(1):59-72.
doi: 10.1097/00005792-199801000-00006.
PMID: 9465864
Therapy
Turpin R,
Liu R,
Munne PM,
Peura A,
Rannikko JH,
Philips G,
Boeckx B,
Salmelin N,
Hurskainen E,
Suleymanova I,
Aung J,
Vuorinen EM,
Lehtinen L,
Mutka M,
Kovanen PE,
Niinikoski L,
Meretoja TJ,
Mattson J,
Mustjoki S,
Saavalainen P,
Goga A,
Lambrechts D,
Pouwels J,
Hollmén M,
Klefström J
J Immunother Cancer
2024 Apr 11;12(4)
doi: 10.1136/jitc-2023-008053.
PMID: 38604809Free PMC Article
Sabharwal A,
Campbell JM,
Schwab TL,
WareJoncas Z,
Wishman MD,
Ata H,
Liu W,
Ichino N,
Hunter DE,
Bergren JD,
Urban MD,
Urban RM,
Holmberg SR,
Kar B,
Cook A,
Ding Y,
Xu X,
Clark KJ,
Ekker SC
Genes (Basel)
2022 Jul 23;13(8)
doi: 10.3390/genes13081317.
PMID: 35893052Free PMC Article
Kaustio M,
Nayebzadeh N,
Hinttala R,
Tapiainen T,
Åström P,
Mamia K,
Pernaa N,
Lehtonen J,
Glumoff V,
Rahikkala E,
Honkila M,
Olsén P,
Hassinen A,
Polso M,
Al Sukaiti N,
Al Shekaili J,
Al Kindi M,
Al Hashmi N,
Almusa H,
Bulanova D,
Haapaniemi E,
Chen P,
Suo-Palosaari M,
Vieira P,
Tuominen H,
Kokkonen H,
Al Macki N,
Al Habsi H,
Löppönen T,
Rantala H,
Pietiäinen V,
Zhang SY,
Renko M,
Hautala T,
Al Farsi T,
Uusimaa J,
Saarela J
J Allergy Clin Immunol
2021 Aug;148(2):599-611.
Epub 2021 Mar 1
doi: 10.1016/j.jaci.2020.12.656.
PMID: 33662367
Rahman S
Epilepsy Behav
2019 Dec;101(Pt B):106546.
Epub 2019 Oct 31
doi: 10.1016/j.yebeh.2019.106546.
PMID: 31677997
Schapira AH
Curr Opin Neurol
2000 Oct;13(5):527-32.
doi: 10.1097/00019052-200010000-00004.
PMID: 11073358
Prognosis
van der Ven AT,
Cabrera-Orefice A,
Wente I,
Feichtinger RG,
Tsiakas K,
Weiss D,
Bierhals T,
Scholle L,
Prokisch H,
Kopajtich R,
Santer R,
Mayr JA,
Hempel M,
Wittig I
Mol Genet Metab
2023 Nov;140(3):107675.
Epub 2023 Aug 4
doi: 10.1016/j.ymgme.2023.107675.
PMID: 37572574
Sabharwal A,
Campbell JM,
Schwab TL,
WareJoncas Z,
Wishman MD,
Ata H,
Liu W,
Ichino N,
Hunter DE,
Bergren JD,
Urban MD,
Urban RM,
Holmberg SR,
Kar B,
Cook A,
Ding Y,
Xu X,
Clark KJ,
Ekker SC
Genes (Basel)
2022 Jul 23;13(8)
doi: 10.3390/genes13081317.
PMID: 35893052Free PMC Article
Deneubourg C,
Ramm M,
Smith LJ,
Baron O,
Singh K,
Byrne SC,
Duchen MR,
Gautel M,
Eskelinen EL,
Fanto M,
Jungbluth H
Autophagy
2022 Mar;18(3):496-517.
Epub 2021 Aug 19
doi: 10.1080/15548627.2021.1943177.
PMID: 34130600Free PMC Article
El-Hattab AW,
Scaglia F
Cell Calcium
2016 Sep;60(3):199-206.
Epub 2016 Mar 4
doi: 10.1016/j.ceca.2016.03.003.
PMID: 26996063
Mayr JA,
Haack TB,
Freisinger P,
Karall D,
Makowski C,
Koch J,
Feichtinger RG,
Zimmermann FA,
Rolinski B,
Ahting U,
Meitinger T,
Prokisch H,
Sperl W
J Inherit Metab Dis
2015 Jul;38(4):629-40.
Epub 2015 Mar 17
doi: 10.1007/s10545-015-9831-y.
PMID: 25778941Free PMC Article
Clinical prediction guides
Wang J,
Qiu Y,
Yang L,
Wang J,
He J,
Tang C,
Yang Z,
Hong W,
Yang B,
He Q,
Weng Q
Autophagy
2024 Dec;20(12):2677-2696.
Epub 2024 Aug 4
doi: 10.1080/15548627.2024.2384348.
PMID: 39099169Free PMC Article
Ast T,
Itoh Y,
Sadre S,
McCoy JG,
Namkoong G,
Wengrod JC,
Chicherin I,
Joshi PR,
Kamenski P,
Suess DLM,
Amunts A,
Mootha VK
Mol Cell
2024 Jan 18;84(2):359-374.e8.
Epub 2024 Jan 9
doi: 10.1016/j.molcel.2023.12.016.
PMID: 38199006Free PMC Article
Doni D,
Cavion F,
Bortolus M,
Baschiera E,
Muccioli S,
Tombesi G,
d'Ettorre F,
Ottaviani D,
Marchesan E,
Leanza L,
Greggio E,
Ziviani E,
Russo A,
Bellin M,
Sartori G,
Carbonera D,
Salviati L,
Costantini P
Cell Death Dis
2023 Dec 8;14(12):805.
doi: 10.1038/s41419-023-06320-y.
PMID: 38062036Free PMC Article
Guhathakurta S,
Erdogdu NU,
Hoffmann JJ,
Grzadzielewska I,
Schendzielorz A,
Seyfferth J,
Mårtensson CU,
Corrado M,
Karoutas A,
Warscheid B,
Pfanner N,
Becker T,
Akhtar A
Nat Metab
2023 Nov;5(11):1931-1952.
Epub 2023 Oct 9
doi: 10.1038/s42255-023-00904-w.
PMID: 37813994Free PMC Article
Gemmer M,
Chaillet ML,
van Loenhout J,
Cuevas Arenas R,
Vismpas D,
Gröllers-Mulderij M,
Koh FA,
Albanese P,
Scheltema RA,
Howes SC,
Kotecha A,
Fedry J,
Förster F
Nature
2023 Feb;614(7946):160-167.
Epub 2023 Jan 25
doi: 10.1038/s41586-022-05638-5.
PMID: 36697828Free PMC Article