Etiology
Mansouri V,
Tavasoli AR,
Khodarahmi M,
Dakkali MS,
Daneshfar S,
Ashrafi MR,
Heidari M,
Hosseinpour S,
Sharifianjazi F,
Bemanalizadeh M
Eur J Neurol
2023 Sep;30(9):2919-2945.
Epub 2023 Jun 8
doi: 10.1111/ene.15871.
PMID: 37209042
Shaimardanova AA,
Solovyeva VV,
Issa SS,
Rizvanov AA
Int J Mol Sci
2023 Feb 11;24(4)
doi: 10.3390/ijms24043627.
PMID: 36835039Free PMC Article
Franceschini D,
Dinulos JG
Curr Opin Pediatr
2015 Aug;27(4):480-5.
doi: 10.1097/MOP.0000000000000247.
PMID: 26087431
Patterson MC
Handb Clin Neurol
2013;113:1707-8.
doi: 10.1016/B978-0-444-59565-2.00039-3.
PMID: 23622392
Yatsu FM
Calif Med
1971 Apr;114(4):1-6.
PMID: 5551302Free PMC Article
Diagnosis
Mansouri V,
Tavasoli AR,
Khodarahmi M,
Dakkali MS,
Daneshfar S,
Ashrafi MR,
Heidari M,
Hosseinpour S,
Sharifianjazi F,
Bemanalizadeh M
Eur J Neurol
2023 Sep;30(9):2919-2945.
Epub 2023 Jun 8
doi: 10.1111/ene.15871.
PMID: 37209042
Barritt AW,
Anderson SJ,
Leigh PN,
Ridha BH
Pract Neurol
2017 Oct;17(5):396-399.
Epub 2017 Jul 24
doi: 10.1136/practneurol-2017-001665.
PMID: 28739864
Franceschini D,
Dinulos JG
Curr Opin Pediatr
2015 Aug;27(4):480-5.
doi: 10.1097/MOP.0000000000000247.
PMID: 26087431
Patterson MC
Handb Clin Neurol
2013;113:1707-8.
doi: 10.1016/B978-0-444-59565-2.00039-3.
PMID: 23622392
Yatsu FM
Calif Med
1971 Apr;114(4):1-6.
PMID: 5551302Free PMC Article
Therapy
Mansouri V,
Tavasoli AR,
Khodarahmi M,
Dakkali MS,
Daneshfar S,
Ashrafi MR,
Heidari M,
Hosseinpour S,
Sharifianjazi F,
Bemanalizadeh M
Eur J Neurol
2023 Sep;30(9):2919-2945.
Epub 2023 Jun 8
doi: 10.1111/ene.15871.
PMID: 37209042
Martakis K,
Claassen J,
Gascon-Bayari J,
Goldschagg N,
Hahn A,
Hassan A,
Hennig A,
Jones S,
Kay R,
Lau H,
Perlman S,
Sharma R,
Schneider S,
Bremova-Ertl T
Neurology
2023 Mar 7;100(10):e1072-e1083.
Epub 2022 Dec 1
doi: 10.1212/WNL.0000000000201660.
PMID: 36456200Free PMC Article
Regier DS,
Proia RL,
D'Azzo A,
Tifft CJ
Pediatr Endocrinol Rev
2016 Jun;13 Suppl 1(Suppl 1):663-73.
PMID: 27491214Free PMC Article
Franceschini D,
Dinulos JG
Curr Opin Pediatr
2015 Aug;27(4):480-5.
doi: 10.1097/MOP.0000000000000247.
PMID: 26087431
Suzuki Y
Brain Dev
2013 Jun;35(6):515-23.
Epub 2013 Jan 3
doi: 10.1016/j.braindev.2012.12.002.
PMID: 23290321
Prognosis
Blondel A,
Kraoua I,
Marcelino C,
Khrouf W,
Schlemmer D,
Ganne B,
Caillaud C,
Fernández-Eulate G,
Turki IBY,
Dauriat B,
Bonnefont-Rousselot D,
Nadjar Y,
Lamari F
Mol Genet Metab
2023 Feb;138(2):106983.
Epub 2022 Dec 26
doi: 10.1016/j.ymgme.2022.106983.
PMID: 36709536
van Eijk M,
Ferraz MJ,
Boot RG,
Aerts JMFG
Essays Biochem
2020 Sep 23;64(3):565-578.
doi: 10.1042/EBC20190090.
PMID: 32808655Free PMC Article
Lang FM,
Korner P,
Harnett M,
Karunakara A,
Tifft CJ
Mol Genet Metab
2020 Mar;129(3):228-235.
Epub 2019 Dec 30
doi: 10.1016/j.ymgme.2019.12.012.
PMID: 31937438Free PMC Article
Cachon-Gonzalez MB,
Zaccariotto E,
Cox TM
Curr Gene Ther
2018;18(2):68-89.
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PMID: 29618308Free PMC Article
Franceschini D,
Dinulos JG
Curr Opin Pediatr
2015 Aug;27(4):480-5.
doi: 10.1097/MOP.0000000000000247.
PMID: 26087431
Clinical prediction guides
Kern J,
Böhringer J,
Timmann D,
Trollmann R,
Stendel C,
Kamm C,
Röbl M,
Santhanakumaran V,
Groeschel S,
Beck-Wödl S,
Göricke S,
Krägeloh-Mann I,
Synofzik M
Neurology
2024 Jan 9;102(1):e207898.
Epub 2023 Dec 12
doi: 10.1212/WNL.0000000000207898.
PMID: 38165373Free PMC Article
Godbole NP,
Haxton E,
Rowe OE,
Locascio JJ,
Schmahmann JD,
Eichler FS,
Ratai EM,
Stephen CD
Ann Clin Transl Neurol
2024 Jan;11(1):207-224.
Epub 2023 Nov 27
doi: 10.1002/acn3.51947.
PMID: 38009419Free PMC Article
Mansouri V,
Tavasoli AR,
Khodarahmi M,
Dakkali MS,
Daneshfar S,
Ashrafi MR,
Heidari M,
Hosseinpour S,
Sharifianjazi F,
Bemanalizadeh M
Eur J Neurol
2023 Sep;30(9):2919-2945.
Epub 2023 Jun 8
doi: 10.1111/ene.15871.
PMID: 37209042
Boland S,
Swarup S,
Ambaw YA,
Malia PC,
Richards RC,
Fischer AW,
Singh S,
Aggarwal G,
Spina S,
Nana AL,
Grinberg LT,
Seeley WW,
Surma MA,
Klose C,
Paulo JA,
Nguyen AD,
Harper JW,
Walther TC,
Farese RV Jr
Nat Commun
2022 Oct 7;13(1):5924.
doi: 10.1038/s41467-022-33500-9.
PMID: 36207292Free PMC Article
Janikiewicz J,
Szymański J,
Malinska D,
Patalas-Krawczyk P,
Michalska B,
Duszyński J,
Giorgi C,
Bonora M,
Dobrzyn A,
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Cell Death Dis
2018 Feb 28;9(3):332.
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PMID: 29491385Free PMC Article