Etiology
Deschenes NM,
Cheng C,
Ryckman AE,
Quinville BM,
Khanal P,
Mitchell M,
Chen Z,
Sangrar W,
Gray SJ,
Walia JS
Int J Mol Sci
2023 May 24;24(11)
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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
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PMID: 37209042
Shaimardanova AA,
Solovyeva VV,
Issa SS,
Rizvanov AA
Int J Mol Sci
2023 Feb 11;24(4)
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PMID: 36835039Free PMC Article
Rowe OE,
Rangaprakash D,
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Godbole N,
Haxton E,
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Stephen CD,
Barry RL,
Eichler FS,
Ratai EM
Mol Genet Metab
2021 Aug;133(4):386-396.
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Patterson MC
Handb Clin Neurol
2013;113:1707-8.
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PMID: 23622392
Diagnosis
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
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
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PMID: 36456200Free PMC Article
Zhou H,
Wu Z,
Wang Y,
Wu Q,
Hu M,
Ma S,
Zhou M,
Sun Y,
Yu B,
Ye J,
Jiang W,
Fu Z,
Gong Y
Adv Exp Med Biol
2022;1372:189-213.
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PMID: 35503182
Patterson MC
Handb Clin Neurol
2013;113:1707-8.
doi: 10.1016/B978-0-444-59565-2.00039-3.
PMID: 23622392
Therapy
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
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,
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Pediatr Endocrinol Rev
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Sonnino S
Mol Neurobiol
2014 Aug;50(1):159-67.
Epub 2013 Dec 20
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PMID: 24356898
Prognosis
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
Johnson AK,
McCurdy VJ,
Gray-Edwards HL,
Maguire AS,
Cochran JN,
Gross AL,
Skinner HE,
Randle AN,
Shirley JL,
Brunson BL,
Bradbury AM,
Leroy SG,
Hwang M,
Rockwell HE,
Cox NR,
Baker HJ,
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Ann Neurol
2023 Nov;94(5):969-986.
Epub 2023 Aug 16
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PMID: 37526361Free PMC Article
Ganne B,
Dauriat B,
Richard L,
Lamari F,
Ghorab K,
Magy L,
Benkirane M,
Perani A,
Marquet V,
Calvas P,
Yardin C,
Bourthoumieu S
Neurol Sci
2022 Nov;43(11):6517-6527.
Epub 2022 Aug 4
doi: 10.1007/s10072-022-06270-x.
PMID: 35925454
van Eijk M,
Ferraz MJ,
Boot RG,
Aerts JMFG
Essays Biochem
2020 Sep 23;64(3):565-578.
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Curr Gene Ther
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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
Deschenes NM,
Cheng C,
Ryckman AE,
Quinville BM,
Khanal P,
Mitchell M,
Chen Z,
Sangrar W,
Gray SJ,
Walia JS
Int J Mol Sci
2023 May 24;24(11)
doi: 10.3390/ijms24119217.
PMID: 37298170Free 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
Ganne B,
Dauriat B,
Richard L,
Lamari F,
Ghorab K,
Magy L,
Benkirane M,
Perani A,
Marquet V,
Calvas P,
Yardin C,
Bourthoumieu S
Neurol Sci
2022 Nov;43(11):6517-6527.
Epub 2022 Aug 4
doi: 10.1007/s10072-022-06270-x.
PMID: 35925454