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Comment
. 2019 Oct 1;142(10):2895-2897.
doi: 10.1093/brain/awz273.

Hereditary nodo-paranodopathies: genomic variants, not just autoantibodies, hit the protein

Mert Karakaya  1 , Brunhilde Wirth  1
Affiliations
Comment

Hereditary nodo-paranodopathies: genomic variants, not just autoantibodies, hit the protein

Mert Karakaya et al. Brain. .
No abstract available

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  • Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
    Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group; Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H. Efthymiou S, et al. Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248. Brain. 2019. PMID: 31501903 Free PMC article.

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