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Page 1
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: caballero avila m. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
High prevalence of paraspinal muscle involvement in adults with McArdle disease.
Álvarez-Velasco R, Nuñez-Peralta CA, Alonso-Pérez J, Gallardo E, Collet-Vidiella R, Reyes-Leiva D, Pascual-Goñi E, Martín-Aguilar L, Caballero-Ávila M, Carbayo-Viejo Á, Llauger-Roselló J, Díaz-Manera J, Olivé M. Álvarez-Velasco R, et al. Muscle Nerve. 2022 May;65(5):568-573. doi: 10.1002/mus.27523. Epub 2022 Feb 26. Muscle Nerve. 2022. PMID: 35174518
A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
Segarra-Casas A, Collet R, Gonzalez-Quereda L, Vesperinas A, Caballero-Ávila M, Carbayo A, Díaz-Manera J, Rodriguez MJ, Gallardo E, Gallano P, Olivé M. Segarra-Casas A, et al. Among authors: caballero avila m. Neuromuscul Disord. 2023 Apr;33(4):319-323. doi: 10.1016/j.nmd.2023.02.006. Epub 2023 Feb 15. Neuromuscul Disord. 2023. PMID: 36893608
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M, Ikenaga C, Topf A, Caballero-Ávila M, Chou TF, Li S, Wang F, Daw J, Stojkovic T, Villar-Quiles R, Nishino I, Inoue M, Nishimori Y, Saito Y, Katsuno M, Noda S, Ito C, Otsuka M, Nahir S, Manousakis G, Walk D, Quinn C, Alfano L, Sahenk Z, Tasca G, Monforte M, Sabatelli M, Bisogni G, Oldfors A, Rydeliu A, Pal E, Paradas C, Velez B, De Bleecker JL, Farugia ME, Longman C, Harms MB, Ralston S, Zanoteli E, Macedo Serafim da Silva A, Sotoca J, Juntas-Morales R, Bevilacqua J, Balart M, Talbot S, Straub V, Guglieri M, Marini-Bettolo C, Diaz-Manera J, Weihl CC. Schiava M, et al. Among authors: caballero avila m. Neurol Genet. 2023 Aug 15;9(5):e200093. doi: 10.1212/NXG.0000000000200093. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37588275 Free PMC article.
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. 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.
Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis.
Reyes-Leiva D, López-Contreras J, Moga E, Pla-Juncà F, Lynton-Pons E, Rojas-Garcia R, Turon-Sans J, Querol L, Olive M, Álvarez-Velasco R, Caballero-Ávila M, Carbayo Á, Vesperinas-Castro A, Domingo P, Illa I, Gallardo E, Cortés-Vicente E. Reyes-Leiva D, et al. Neurol Neuroimmunol Neuroinflamm. 2022 Jun 21;9(4):e200002. doi: 10.1212/NXI.0000000000200002. Print 2022 Jul. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 35728947 Free PMC article.
Antibodies against the flotillin-1/2 complex in patients with multiple sclerosis.
Lleixà C, Caballero-Ávila M, Pascual-Goñi E, Martín-Aguilar L, Vidal N, Tejada C, Valdés-Hevia E, Zárate E, Vesperinas A, Collet R, Franco-Leyva T, Martínez-Martínez L, Moga E, Cortés-Vicente E, Rojas-García R, Gómez-Anson B, Gil A, González-Mingot C, Brieva L, Martínez-Yélamos S, Querol L. Lleixà C, et al. Among authors: caballero avila m. Brain Commun. 2023 Apr 4;5(2):fcad109. doi: 10.1093/braincomms/fcad109. eCollection 2023. Brain Commun. 2023. PMID: 37091585 Free PMC article.
Leptospirosis-induced acute acquired inflammatory neuropathy.
Xucla-Ferrarons T, Turon-Sans J, Caballero-Avila M, Cortes-Vicente E, Rojas-Garcia R. Xucla-Ferrarons T, et al. Among authors: caballero avila m. J Peripher Nerv Syst. 2023 Mar;28(1):125-129. doi: 10.1111/jns.12525. Epub 2023 Jan 9. J Peripher Nerv Syst. 2023. PMID: 36567442
14 results