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Page 1
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF. Blasco-Pérez L, et al. Among authors: bernal s. Int J Mol Sci. 2022 Jul 27;23(15):8289. doi: 10.3390/ijms23158289. Int J Mol Sci. 2022. PMID: 35955418 Free PMC article.
Clinicopathological correlates in the frontotemporal lobar degeneration-motor neuron disease spectrum.
Carbayo Á, Borrego-Écija S, Turon-Sans J, Cortés-Vicente E, Molina-Porcel L, Gascón-Bayarri J, Rubio MÁ, Povedano M, Gámez J, Sotoca J, Juntas-Morales R, Almendrote M, Marquié M, Sánchez-Valle R, Illán-Gala I, Dols-Icardo O, Rubio-Guerra S, Bernal S, Caballero-Ávila M, Vesperinas A, Gelpi E, Rojas-García R. Carbayo Á, et al. Among authors: bernal s. Brain. 2024 Jul 5;147(7):2357-2367. doi: 10.1093/brain/awae011. Brain. 2024. PMID: 38227807 Free PMC article.
Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis.
Dols-Icardo O, Carbayo Á, Jericó I, Blasco-Martínez O, Álvarez-Sánchez E, López Pérez MA, Bernal S, Rodríguez-Santiago B, Cusco I, Turon-Sans J, Cabezas-Torres M, Caballero-Ávila M, Vesperinas A, Llansó L, Pagola-Lorz I, Torné L, Valle-Tamayo N, Muñoz L, Rubio-Guerra S, Illán-Gala I, Cortés-Vicente E, Gelpi E, Rojas-García R. Dols-Icardo O, et al. Among authors: bernal s. J Neurol Neurosurg Psychiatry. 2024 Jul 2:jnnp-2024-333834. doi: 10.1136/jnnp-2024-333834. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 38960585 Free article.
Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease.
Gonzalez-Quereda L, Pagola I, Fuentes Prior P, Bernal S, Rodriguez MJ, Torné L, Salgado Garrido J, Gallano P, Jericó I. Gonzalez-Quereda L, et al. Among authors: bernal s. Ann Clin Transl Neurol. 2021 Jan;8(1):294-299. doi: 10.1002/acn3.51265. Epub 2020 Dec 4. Ann Clin Transl Neurol. 2021. PMID: 33275839 Free PMC article.
275 results