Etiology
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Lai A,
Hill RS,
Mochida GH,
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JAMA Neurol
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de Coo R,
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Genet Med
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Diagnosis
Akula SK,
Chen AY,
Neil JE,
Shao DD,
Mo A,
Hylton NK,
DiTroia S,
Ganesh VS,
Smith RS,
O'Kane K,
Yeh RC,
Marciano JH,
Kirkham S,
Kenny CJ,
Song JHT,
Al Saffar M,
Millan F,
Harris DJ,
Murphy AV,
Klemp KC,
Braddock SR,
Brand H,
Wong I,
Talkowski ME,
O'Donnell-Luria A,
Lai A,
Hill RS,
Mochida GH,
Doan RN,
Barkovich AJ,
Yang E,
Amrom D,
Andermann E,
Poduri A,
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JAMA Neurol
2023 Sep 1;80(9):980-988.
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PMID: 37486637Free PMC Article
Wu C,
Wang M,
Wang X,
Li W,
Li S,
Chen B,
Niu S,
Tai H,
Pan H,
Zhang Z
Brain
2023 Jun 1;146(6):2364-2376.
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PMID: 36380532Free PMC Article
Bersano A,
Kraemer M,
Burlina A,
Mancuso M,
Finsterer J,
Sacco S,
Salvarani C,
Caputi L,
Chabriat H,
Oberstein SL,
Federico A,
Lasserve ET,
Hunt D,
Dichgans M,
Arnold M,
Debette S,
Markus HS
J Neurol
2021 Aug;268(8):2780-2807.
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Meuwissen ME,
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Lequin MH,
Cobben JM,
de Coo R,
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Genet Med
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Therapy
Peng X,
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PLoS One
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Dichgans M;
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Neurotherapeutics
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Prognosis
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PeerJ
2023;11:e16243.
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Simintiras C,
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2023 Oct;14(5):2152-2167.
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Liu Y,
Zhang J,
Chen Y,
Sohel H,
Ke X,
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Li YX
Aging (Albany NY)
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Meuwissen ME,
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Smit LS,
Lequin MH,
Cobben JM,
de Coo R,
van Harssel J,
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Woldringh G,
van der Knaap MS,
de Vries LS,
Mancini GM
Genet Med
2015 Nov;17(11):843-53.
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Clinical prediction guides
Wang L,
Gao P,
Li C,
Liu Q,
Yao Z,
Li Y,
Zhang X,
Sun J,
Simintiras C,
Welborn M,
McMillin K,
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Kuang S,
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Mitamura Y,
Reiger M,
Kim J,
Xiao Y,
Zhakparov D,
Tan G,
Rückert B,
Rinaldi AO,
Baerenfaller K,
Akdis M,
Brüggen MC,
Nadeau KC,
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Roqueiro D,
Traidl-Hoffmann C,
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Allergy
2023 Aug;78(8):2215-2231.
Epub 2023 Jun 14
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PMID: 37312623
Ågren MS,
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Bzorek M,
Gjerdrum LMR
Int J Mol Sci
2022 Dec 12;23(24)
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Borlot F,
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Andrade DM
JAMA Neurol
2017 Nov 1;74(11):1301-1311.
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PMID: 28846756Free PMC Article
Meuwissen ME,
Halley DJ,
Smit LS,
Lequin MH,
Cobben JM,
de Coo R,
van Harssel J,
Sallevelt S,
Woldringh G,
van der Knaap MS,
de Vries LS,
Mancini GM
Genet Med
2015 Nov;17(11):843-53.
Epub 2015 Feb 26
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PMID: 25719457