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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 1
2012 1
2013 1
2014 2
2015 4
2016 1
2017 1
2018 2
2019 4
2020 4
2021 4
2022 4
2023 2
2024 2

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29 results

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Page 1
Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy.
Martín-Aguilar L, Lleixà C, Pascual-Goñi E, Caballero-Ávila M, Martínez-Martínez L, Díaz-Manera J, Rojas-García R, Cortés-Vicente E, Turon-Sans J, de Luna N, Suárez-Calvet X, Gallardo E, Rajabally Y, Scotton S, Jacobs BC, Baars A, Cortese A, Vegezzi E, Höftberger R, Zimprich F, Roesler C, Nobile-Orazio E, Liberatore G, Hiew FL, Martínez-Piñeiro A, Carvajal A, Piñar-Morales R, Usón-Martín M, Albertí O, López-Pérez MÁ, Márquez F, Pardo-Fernández J, Muñoz-Delgado L, Cabrera-Serrano M, Ortiz N, Bartolomé M, Duman Ö, Bril V, Segura-Chávez D, Pitarokoili K, Steen C, Illa I, Querol L. Martín-Aguilar L, et al. Among authors: cabrera serrano m. Neurol Neuroimmunol Neuroinflamm. 2021 Nov 2;9(1):e1098. doi: 10.1212/NXI.0000000000001098. Print 2022 Jan. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34728497 Free PMC article.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Mavillard F, Servian-Morilla E, Dofash L, Rojas-Marcos I, Folland C, Monahan G, Gutierrez-Gutierrez G, Rivas E, Hernández-Lain A, Valladares A, Cantero G, Morales JM, Laing NG, Paradas C, Ravenscroft G, Cabrera-Serrano M. Mavillard F, et al. Among authors: cabrera serrano m. Brain. 2023 Dec 1;146(12):5235-5248. doi: 10.1093/brain/awad256. Brain. 2023. PMID: 37503746
The Iberian Roma Population Variant Server (IRPVS).
Mavillard F, Perez-Florido J, Ortuño FM, Valladares A, Álvarez-Villegas ML, Roldán G, Carmona R, Soriano M, Susarte S, Fuentes P, López-López D, Nuñez-Negrillo AM, Carvajal A, Morgado Y, Arteaga D, Ufano R, Mir P, Gamella JF, Dopazo J, Paradas C, Cabrera-Serrano M. Mavillard F, et al. Among authors: cabrera serrano m. J Genet Genomics. 2024 Jul;51(7):769-773. doi: 10.1016/j.jgg.2024.03.006. Epub 2024 Mar 26. J Genet Genomics. 2024. PMID: 38548101 No abstract available.
Expanding the phenotype of GMPPB mutations.
Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, Reddel S, Sue CM, Liang C, Waddell LB, Kaur S, Lek M, North KN, MacArthur DG, Lamont PJ, Clarke NF, Laing NG. Cabrera-Serrano M, et al. Brain. 2015 Apr;138(Pt 4):836-44. doi: 10.1093/brain/awv013. Epub 2015 Feb 12. Brain. 2015. PMID: 25681410
A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia.
Mavillard F, Guerra-Castellano A, Guerrero-Gómez D, Rivas E, Cantero G, Servian-Morilla E, Folland C, Ravenscroft G, Martín MA, Miranda-Vizuete A, Cabrera-Serrano M, Diaz-Moreno I, Paradas C. Mavillard F, et al. Among authors: cabrera serrano m. Biochim Biophys Acta Mol Basis Dis. 2024 Jul 1;1870(7):167330. doi: 10.1016/j.bbadis.2024.167330. Online ahead of print. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38960055 Free article. Review. No abstract available.
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
Cabrera-Serrano M, Coote DJ, Azmanov D, Goullee H, Andersen E, McLean C, Davis M, Ishimura R, Stark Z, Vallat JM, Komatsu M, Kornberg A, Ryan M, Laing NG, Ravenscroft G. Cabrera-Serrano M, et al. J Med Genet. 2020 Dec;57(12):835-842. doi: 10.1136/jmedgenet-2019-106496. Epub 2020 Mar 16. J Med Genet. 2020. PMID: 32179706 Free article.
29 results