Etiology
Dragašević-Mišković N,
Stanković I,
Milovanović A,
Kostić VS
J Neurol
2022 Jan;269(1):504-533.
Epub 2021 Sep 9
doi: 10.1007/s00415-021-10763-8.
PMID: 34499204
Amirifar P,
Ranjouri MR,
Lavin M,
Abolhassani H,
Yazdani R,
Aghamohammadi A
Expert Rev Clin Immunol
2020 Sep;16(9):859-871.
Epub 2020 Oct 15
doi: 10.1080/1744666X.2020.1810570.
PMID: 32791865
Picher-Martel V,
Dupre N
CNS Neurol Disord Drug Targets
2018;17(3):161-171.
doi: 10.2174/1871527317666180419115029.
PMID: 29676235
Zaki-Dizaji M,
Akrami SM,
Azizi G,
Abolhassani H,
Aghamohammadi A
Inflamm Res
2018 Jul;67(7):559-570.
Epub 2018 Mar 26
doi: 10.1007/s00011-018-1142-y.
PMID: 29582093
Vanier MT
Handb Clin Neurol
2013;113:1717-21.
doi: 10.1016/B978-0-444-59565-2.00041-1.
PMID: 23622394
Diagnosis
Amirifar P,
Ranjouri MR,
Lavin M,
Abolhassani H,
Yazdani R,
Aghamohammadi A
Expert Rev Clin Immunol
2020 Sep;16(9):859-871.
Epub 2020 Oct 15
doi: 10.1080/1744666X.2020.1810570.
PMID: 32791865
Amirifar P,
Ranjouri MR,
Yazdani R,
Abolhassani H,
Aghamohammadi A
Pediatr Allergy Immunol
2019 May;30(3):277-288.
Epub 2019 Mar 20
doi: 10.1111/pai.13020.
PMID: 30685876
Stamou MI,
Georgopoulos NA
Metabolism
2018 Sep;86:124-134.
Epub 2017 Nov 3
doi: 10.1016/j.metabol.2017.10.012.
PMID: 29108899Free PMC Article
Rothblum-Oviatt C,
Wright J,
Lefton-Greif MA,
McGrath-Morrow SA,
Crawford TO,
Lederman HM
Orphanet J Rare Dis
2016 Nov 25;11(1):159.
doi: 10.1186/s13023-016-0543-7.
PMID: 27884168Free PMC Article
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Therapy
Kuhn K,
Lederman HM,
McGrath-Morrow SA
Expert Opin Investig Drugs
2023 Jul-Dec;32(8):693-704.
Epub 2023 Aug 28
doi: 10.1080/13543784.2023.2249399.
PMID: 37622329Free PMC Article
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
doi: 10.1093/brain/awac391.
PMID: 36315648Free PMC Article
Synofzik M,
Puccio H,
Mochel F,
Schöls L
Neuron
2019 Feb 20;101(4):560-583.
doi: 10.1016/j.neuron.2019.01.049.
PMID: 30790538
Picher-Martel V,
Dupre N
CNS Neurol Disord Drug Targets
2018;17(3):161-171.
doi: 10.2174/1871527317666180419115029.
PMID: 29676235
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Prognosis
Dragašević-Mišković N,
Stanković I,
Milovanović A,
Kostić VS
J Neurol
2022 Jan;269(1):504-533.
Epub 2021 Sep 9
doi: 10.1007/s00415-021-10763-8.
PMID: 34499204
Amirifar P,
Ranjouri MR,
Lavin M,
Abolhassani H,
Yazdani R,
Aghamohammadi A
Expert Rev Clin Immunol
2020 Sep;16(9):859-871.
Epub 2020 Oct 15
doi: 10.1080/1744666X.2020.1810570.
PMID: 32791865
Rothblum-Oviatt C,
Wright J,
Lefton-Greif MA,
McGrath-Morrow SA,
Crawford TO,
Lederman HM
Orphanet J Rare Dis
2016 Nov 25;11(1):159.
doi: 10.1186/s13023-016-0543-7.
PMID: 27884168Free PMC Article
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Palau F,
Espinós C
Orphanet J Rare Dis
2006 Nov 17;1:47.
doi: 10.1186/1750-1172-1-47.
PMID: 17112370Free PMC Article
Clinical prediction guides
Maroofian R,
Kaiyrzhanov R,
Cali E,
Zamani M,
Zaki MS,
Ferla M,
Tortora D,
Sadeghian S,
Saadi SM,
Abdullah U,
Karimiani EG,
Efthymiou S,
Yeşil G,
Alavi S,
Al Shamsi AM,
Tajsharghi H,
Abdel-Hamid MS,
Saadi NW,
Al Mutairi F,
Alabdi L,
Beetz C,
Ali Z,
Toosi MB,
Rudnik-Schöneborn S,
Babaei M,
Isohanni P,
Muhammad J,
Khan S,
Al Shalan M,
Hickey SE,
Marom D,
Elhanan E,
Kurian MA,
Marafi D,
Saberi A,
Hamid M,
Spaull R,
Meng L,
Lalani S,
Maqbool S,
Rahman F,
Seeger J,
Palculict TB,
Lau T,
Murphy D,
Mencacci NE,
Steindl K,
Begemann A,
Rauch A,
Akbas S,
Aslanger AD,
Salpietro V,
Yousaf H,
Ben-Shachar S,
Ejeskär K,
Al Aqeel AI,
High FA,
Armstrong-Javors AE,
Zahraei SM,
Seifi T,
Zeighami J,
Shariati G,
Sedaghat A,
Asl SN,
Shahrooei M,
Zifarelli G,
Burglen L,
Ravelli C,
Zschocke J,
Schatz UA,
Ghavideldarestani M,
Kamel WA,
Van Esch H,
Hackenberg A,
Taylor JC,
Al-Gazali L,
Bauer P,
Gleeson JJ,
Alkuraya FS,
Lupski JR,
Galehdari H,
Azizimalamiri R,
Chung WK,
Baig SM,
Houlden H,
Severino M
Brain
2023 Dec 1;146(12):5031-5043.
doi: 10.1093/brain/awad257.
PMID: 37517035Free PMC Article
Bagaria J,
Bagyinszky E,
An SSA
Int J Mol Sci
2022 Jan 4;23(1)
doi: 10.3390/ijms23010552.
PMID: 35008978Free PMC Article
Cheng A,
Tse KH,
Chow HM,
Gan Y,
Song X,
Ma F,
Qian YXY,
She W,
Herrup K
Autophagy
2021 Aug;17(8):1998-2010.
Epub 2020 Aug 14
doi: 10.1080/15548627.2020.1805860.
PMID: 32757690Free PMC Article
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Borg M
Neurophysiol Clin
2006 Sep-Dec;36(5-6):309-18.
Epub 2007 Jan 17
doi: 10.1016/j.neucli.2006.12.006.
PMID: 17336775