Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

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Title: Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Authors: Cortese, Andrea1,2, Dohrn, Maike F3,4, Curro, Riccardo1,2, Negri, Sara5, Lassuthova, Petra6, Pisciotta, Chiara7, Tozza, Stefano8, Al-Ajmi, Abdullah9, Feng, Changyong10, Tomaselli, Pedro J11, Fernandez-Eulate, Gorka12, Haddad, Saif1, Laurà, Matilde1, Rossor, Alexander M1, Vegezzi, Elisa13, Facchini, Stefano1,2, Sleigh, James N1,14, Rebelo, Adriana3, Beijer, Danique3,15, Raposo, Jacquelyn3
Source: Brain: A Journal of Neurology; Oct2025, Vol. 148 Issue 10, p3737-3747, 11p
Database: Applied Science & Technology Source
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Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 188554419
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
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  Data: <searchLink fieldCode="JN" term="%22Brain%3A+A+Journal+of+Neurology%22">Brain: A Journal of Neurology</searchLink>; Oct2025, Vol. 148 Issue 10, p3737-3747, 11p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=188554419
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        Value: 10.1093/brain/awaf021
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      – Code: eng
        Text: English
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        PageCount: 11
        StartPage: 3737
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      – TitleFull: Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
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              M: 10
              Text: Oct2025
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              Y: 2025
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