| SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance E Varone, D Pozzer, S Di Modica, A Chernorudskiy, L Nogara, M Baraldo, ... Redox biology 24, 101176, 2019 | 48 | 2019 |
| The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series RN Villar-Quiles, M von Der Hagen, C Métay, V Gonzalez, S Donkervoort, ... Neurology 95 (11), e1512-e1527, 2020 | 46 | 2020 |
| Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy A Filipe, A Chernorudskiy, S Arbogast, E Varone, RN Villar-Quiles, ... Cell Death & Differentiation 28 (1), 123-138, 2021 | 40 | 2021 |
| Supratrochlear neuralgia: a prospective case series of 15 patients JA Pareja, P López‐Ruiz, D Mayo, RN Villar‐Quiles, A Cárcamo, ... Headache: The Journal of Head and Face Pain 57 (9), 1433-1442, 2017 | 25 | 2017 |
| Inappropriate use of urinary catheters in patients admitted to medical wards in a university hospital M Fernández-Ruiz, B Calvo, R Vara, RN Villar, JM Aguado Enfermedades Infecciosas y Microbiología Clínica 31 (8), 523-525, 2013 | 24 | 2013 |
| Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study M Schiava, C Ikenaga, RN Villar-Quiles, M Caballero-Ávila, A Topf, ... Journal of Neurology, Neurosurgery & Psychiatry 93 (10), 1099-1111, 2022 | 23 | 2022 |
| Immununochemical markers of the amyloid cascade in the hippocampus in motor neuron diseases U Gómez-Pinedo, RN Villar-Quiles, L Galán, JA Matías-Guiu, ... Frontiers in neurology 7, 195, 2016 | 21 | 2016 |
| ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy RN Villar‐Quiles, F Catervi, E Cabet, R Juntas‐Morales, CA Genetti, ... Annals of neurology 87 (2), 217-232, 2020 | 18 | 2020 |
| Analysis of the Relationship between the Month of Birth and Risk of Multiple Sclerosis in a Spanish Population RN Villar-Quiles, JA Matías-Guiu, G Ortega, I González-Suárez, ... European Neurology 76 (5-6), 202-209, 2016 | 16 | 2016 |
| A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases LI Pisella, S Fernandes, G Sole, T Stojkovic, C Tard, JB Chanson, ... Orphanet journal of rare diseases 16, 1-9, 2021 | 15 | 2021 |
| Infratrochlear neuralgia: A prospective series of seven patients treated with infratrochlear nerve blocks RN Villar-Quiles, H García-Moreno, D Mayo, Á Gutiérrez-Viedma, ... Cephalalgia 38 (3), 585-591, 2018 | 12 | 2018 |
| Inherited defects of the ASC-1 complex in congenital neuromuscular diseases J Meunier, RN Villar-Quiles, I Duband-Goulet, A Ferreiro International Journal of Molecular Sciences 22 (11), 6039, 2021 | 8 | 2021 |
| Clinical and molecular spectrum associated with COL6A3 c. 7447A> G p.(Lys2483Glu) variant: elucidating its role in collagen VI-related myopathies RN Villar-Quiles, S Donkervoort, A De Becdelièvre, C Gartioux, V Jobic, ... Journal of neuromuscular diseases 8 (4), 633-645, 2021 | 6 | 2021 |
| Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy B Roy, A Peck, T Evangelista, G Pfeffer, L Wang, J Diaz‐Manera, M Korb, ... Annals of clinical and translational neurology 10 (5), 686-695, 2023 | 4 | 2023 |
| Neurosyphilis in the 21st century: a descriptive study in a tertiary hospital in Madrid RN Villar-Quiles, J Porta-Etessam Revista de Neurologia 63 (9), 393-402, 2016 | 4 | 2016 |
| Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome RN Villar‐Quiles, D Sternberg, G Tredez, N Beatriz Romero, ... European Journal of Neurology 29 (8), 2398-2411, 2022 | 3 | 2022 |
| Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT disease RN Villar-Quiles, S Leonard-Louis, NT Trang, NT Huong, L Laddada, ... Neuromuscular Disorders 31 (8), 756-764, 2021 | 3 | 2021 |
| Teaching NeuroImages: Adult-onset vanishing white matter disease RN Villar-Quiles, C Delgado-Suárez, M Jorquera-Moya, J Arpa-Gutiérrez, ... Neurology 90 (12), e1091-e1092, 2018 | 3 | 2018 |
| Teaching NeuroImages: Adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) RN Villar-Quiles, N Gómez-Ruiz, M Jorquera-Moya, J Matías-Guiu, ... Neurology 88 (12), e113-e114, 2017 | 3 | 2017 |
| Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis D Esteller, M Schiava, J Verdú-Díaz, RN Villar-Quiles, B Dibowski, ... Journal of neurology 270 (12), 5849-5865, 2023 | 1 | 2023 |
