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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. Among authors: devaux j. Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248. Brain. 2019. PMID: 31501903 Free PMC article.
Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype.
Cortese A, Lombardi R, Briani C, Callegari I, Benedetti L, Manganelli F, Luigetti M, Ferrari S, Clerici AM, Marfia GA, Rigamonti A, Carpo M, Fazio R, Corbo M, Mazzeo A, Giannini F, Cosentino G, Zardini E, Currò R, Gastaldi M, Vegezzi E, Alfonsi E, Berardinelli A, Kouton L, Manso C, Giannotta C, Doneddu P, Dacci P, Piccolo L, Ruiz M, Salvalaggio A, De Michelis C, Spina E, Topa A, Bisogni G, Romano A, Mariotto S, Mataluni G, Cerri F, Stancanelli C, Sabatelli M, Schenone A, Marchioni E, Lauria G, Nobile-Orazio E, Devaux J, Franciotta D. Cortese A, et al. Among authors: devaux j. Neurol Neuroimmunol Neuroinflamm. 2019 Nov 21;7(1):e639. doi: 10.1212/NXI.0000000000000639. Print 2020 Jan. Neurol Neuroimmunol Neuroinflamm. 2019. PMID: 31753915 Free PMC article.
Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy.
Pascual-Goñi E, Fehmi J, Lleixà C, Martín-Aguilar L, Devaux J, Höftberger R, Delmont E, Doppler K, Sommer C, Radunovic A, Carvajal A, Smyth S, Williams L, Mazanec R, Potočková V, Hinds N, Cassereau J, Viala K, Lefilliatre M, Nicolas G, Foley P, Leypoldt F, Keddie S, Lunn MP, Zimprich F, Nunkoo VS, Löscher WN, Martínez-Martínez L, Díaz-Manera J, Rojas-Garcia R, Illa I, Rinaldi S, Querol L. Pascual-Goñi E, et al. Among authors: devaux j. Brain. 2021 May 7;144(4):1183-1196. doi: 10.1093/brain/awab014. Brain. 2021. PMID: 33880507
Neurofascin-155 IgG4 in chronic inflammatory demyelinating polyneuropathy.
Devaux JJ, Miura Y, Fukami Y, Inoue T, Manso C, Belghazi M, Sekiguchi K, Kokubun N, Ichikawa H, Wong AH, Yuki N. Devaux JJ, et al. Neurology. 2016 Mar 1;86(9):800-7. doi: 10.1212/WNL.0000000000002418. Epub 2016 Feb 3. Neurology. 2016. PMID: 26843559 Free PMC article.
258 results