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Year Number of Results
2016 3
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2020 7
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2022 3
2023 3
2024 1

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26 results

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Page 1
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.
Roy B, Peck A, Evangelista T, Pfeffer G, Wang L, Diaz-Manera J, Korb M, Wicklund MP, Milone M, Freimer M, Kushlaf H, Villar-Quiles RN, Stojkovic T, Needham M, Palmio J, Lloyd TE, Keung B, Mozaffar T, Weihl CC, Kimonis V. Roy B, et al. Among authors: villar quiles rn. Ann Clin Transl Neurol. 2023 May;10(5):686-695. doi: 10.1002/acn3.51760. Epub 2023 Apr 7. Ann Clin Transl Neurol. 2023. PMID: 37026610 Free PMC article. Review.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: villar quiles rn. J Neurol. 2023 Dec;270(12):5849-5865. doi: 10.1007/s00415-023-11862-4. Epub 2023 Aug 21. J Neurol. 2023. PMID: 37603075 Free PMC article.
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: villar quiles rn. 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.
Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.
Filipe A, Chernorudskiy A, Arbogast S, Varone E, Villar-Quiles RN, Pozzer D, Moulin M, Fumagalli S, Cabet E, Dudhal S, De Simoni MG, Denis R, Vadrot N, Dill C, Giovarelli M, Szweda L, De Palma C, Pinton P, Giorgi C, Viscomi C, Clementi E, Missiroli S, Boncompagni S, Zito E, Ferreiro A. Filipe A, et al. Among authors: villar quiles rn. Cell Death Differ. 2021 Jan;28(1):123-138. doi: 10.1038/s41418-020-0587-z. Epub 2020 Jul 13. Cell Death Differ. 2021. PMID: 32661288 Free PMC article.
Teaching NeuroImages: Adult-onset vanishing white matter disease.
Villar-Quiles RN, Delgado-Suárez C, Jorquera-Moya M, Arpa-Gutiérrez J, Ortega-Suero G. Villar-Quiles RN, et al. Neurology. 2018 Mar 20;90(12):e1091-e1092. doi: 10.1212/WNL.0000000000005180. Neurology. 2018. PMID: 29555891 No abstract available.
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Villar-Quiles RN, Sternberg D, Tredez G, Beatriz Romero N, Evangelista T, Lafôret P, Cintas P, Sole G, Sacconi S, Bendahhou S, Franques J, Cances C, Noury JB, Delmont E, Blondy P, Perrin L, Hezode M, Fournier E, Fontaine B, Stojkovic T, Vicart S. Villar-Quiles RN, et al. Eur J Neurol. 2022 Aug;29(8):2398-2411. doi: 10.1111/ene.15369. Epub 2022 May 4. Eur J Neurol. 2022. PMID: 35460302
Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.
Stojkovic T, Masingue M, Turmel H, Hezode-Arzel M, Béhin A, Leonard-Louis S, Bassez G, Bauché S, Blondy P, Richard P, Sternberg D, Eymard B, Fournier E, Villar-Quiles RN. Stojkovic T, et al. Among authors: villar quiles rn. Neuromuscul Disord. 2022 Dec;32(11-12):870-878. doi: 10.1016/j.nmd.2022.10.001. Epub 2022 Oct 9. Neuromuscul Disord. 2022. PMID: 36522822
26 results