Etiology
Wang M,
Yang H,
Lin Z,
Li X,
Liu L,
Huang S,
Zhao H,
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Xiao Q,
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Clin Genet
2022 Nov;102(5):379-390.
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Neurotherapeutics
2021 Oct;18(4):2269-2285.
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Semin Neurol
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Diagnosis
Wang M,
Yang H,
Lin Z,
Li X,
Liu L,
Huang S,
Zhao H,
Zhu X,
Xiao Q,
Duan R,
Wang J,
Zuchner S,
Tang B,
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J Neurol
2023 Oct;270(10):4959-4967.
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Pipis M,
Won S,
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Polke JM,
Skorupinska M,
Blake J,
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Brain
2023 Oct 3;146(10):4025-4032.
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Pons N,
Fernández-Eulate G,
Pegat A,
Théaudin M,
Guieu R,
Ripellino P,
Devedjian M,
Mace P,
Masingue M,
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Petiot P,
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Bernard E,
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Grapperon AM,
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Choumert A,
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2023 Jul;30(7):2001-2011.
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Masingue M,
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Debs R,
Tard C,
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Leonard-Louis S,
Dhaenens CM,
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Rev Neurol (Paris)
2023 Jan-Feb;179(1-2):10-29.
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Higuchi Y,
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J Hum Genet
2023 Mar;68(3):199-214.
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Therapy
McMacken G,
Whittaker RG,
Wake R,
Lochmuller H,
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J Neurol
2023 Jun;270(6):3112-3119.
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Ma M,
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J Neurol
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Wu YT,
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Int J Mol Sci
2021 Nov 16;22(22)
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Reilly MM,
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J Neurol Neurosurg Psychiatry
2020 Nov;91(11):1132-1136.
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2020 Apr 1;1732:146683.
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Prognosis
Pipis M,
Won S,
Poh R,
Efthymiou S,
Polke JM,
Skorupinska M,
Blake J,
Rossor AM,
Moran JJ,
Munot P,
Muntoni F,
Laura M,
Svaren J,
Reilly MM
Brain
2023 Oct 3;146(10):4025-4032.
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PMID: 37337674Free PMC Article
McMacken G,
Whittaker RG,
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Barresi R,
Lochmüller H,
Horvath R
Eur J Neurol
2021 Jan;28(1):297-304.
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PMID: 32909314
Bussmann J,
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Curr Opin Genet Dev
2017 Jun;44:61-73.
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Clinical prediction guides
Pipis M,
Won S,
Poh R,
Efthymiou S,
Polke JM,
Skorupinska M,
Blake J,
Rossor AM,
Moran JJ,
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Muntoni F,
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Brain
2023 Oct 3;146(10):4025-4032.
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PMID: 37337674Free PMC Article
Martin PB,
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Hum Mol Genet
2023 Apr 6;32(8):1276-1288.
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Wang H,
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Xia TH,
Call KM,
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Wu X,
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2021 Aug 3;97(5):e489-e500.
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Hoebeke C,
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2018 Nov;25(8):452-458.
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Bussmann J,
Storkebaum E
Curr Opin Genet Dev
2017 Jun;44:61-73.
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PMID: 28213160