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Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Alvarez-Mora MI, Blanco-Palmero VA, Quesada-Espinosa JF, Arteche-Lopez AR, Llamas-Velasco S, Palma Milla C, Lezana Rosales JM, Gomez-Manjon I, Hernandez-Lain A, Jimenez Almonacid J, Gil-Fournier B, Ramiro-León S, González-Sánchez M, Herrero-San Martín AO, Pérez-Martínez DA, Gómez-Tortosa E, Carro E, Bartolomé F, Gomez-Rodriguez MJ, Sanchez-Calvin MT, Villarejo-Galende A, Moreno-Garcia M. Alvarez-Mora MI, et al. Int J Mol Sci. 2022 Apr 11;23(8):4230. doi: 10.3390/ijms23084230. Int J Mol Sci. 2022. PMID: 35457051 Free PMC article.
PET-Florbetapir findings in primary cerebral amyloidoma.
Villarejo-Galende A, Sarandeses P, Penas-Prado M, Hernández-Laín A, Ramos A, Hernández-Martínez AC, Carro E, Ricoy JR, Hernández-Gallego J. Villarejo-Galende A, et al. J Neurol. 2015;262(4):1052-4. doi: 10.1007/s00415-015-7643-5. Epub 2015 Jan 22. J Neurol. 2015. PMID: 25605437 No abstract available.
Delayed tacrolimus leukoencephalopathy, a rare and reversible cause of dementia.
Barragán-Martínez D, Simarro-Díaz A, Calleja-Castaño P, Hernández-Laín A, Ramos-González A, Villarejo-Galende A. Barragán-Martínez D, et al. Neurol Neuroimmunol Neuroinflamm. 2017 Jan 10;4(2):e319. doi: 10.1212/NXI.0000000000000319. eCollection 2017 Mar. Neurol Neuroimmunol Neuroinflamm. 2017. PMID: 28101519 Free PMC article. No abstract available.
Enteroviral T-cell encephalitis related to immunosuppressive therapy including rituximab.
Garzo-Caldas N, Ruiz-Sainz E, Vila-Bedmar S, Llamas-Velasco S, Hernández-Lain A, Ruiz-Morales J, Folgueira-López D, Villarejo-Galende A. Garzo-Caldas N, et al. Neurology. 2017 Jul 25;89(4):408-409. doi: 10.1212/WNL.0000000000004148. Epub 2017 Jun 23. Neurology. 2017. PMID: 28645913 Free PMC article. No abstract available.
Late onset distal myopathy: A new telethoninopathy.
Blanco-Palmero VA, Hernández-Laín A, Uriarte-Pérez de Urabayen D, Cantero-Montenegro D, Olivé M, Domínguez-González C. Blanco-Palmero VA, et al. Neuromuscul Disord. 2019 Jan;29(1):80-83. doi: 10.1016/j.nmd.2018.11.001. Epub 2018 Nov 13. Neuromuscul Disord. 2019. PMID: 30553702 No abstract available.
SOD1 mutations in adult-onset distal spinal muscular atrophy.
de Fuenmayor-Fernández de la Hoz CP, Hernández-Laín A, Olivé M, Arteche López A, Esteban J, Domínguez-González C. de Fuenmayor-Fernández de la Hoz CP, et al. Eur J Neurol. 2020 Nov;27(11):e75-e76. doi: 10.1111/ene.14426. Epub 2020 Jul 28. Eur J Neurol. 2020. PMID: 32619288 No abstract available.
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
González-Mera L, Ravenscroft G, Cabrera-Serrano M, Ermolova N, Domínguez-González C, Arteche-López A, Soltanzadeh P, Evesson F, Navas C, Mavillard F, Clayton J, Rodrigo P, Servián-Morilla E, Cooper ST, Waddell L, Reardon K, Corbett A, Hernandez-Laín A, Sanchez A, Esteban Perez J, Paradas-Lopez C, Rivas-Infante E, Spencer M, Laing N, Olivé M. González-Mera L, et al. Neuropathol Appl Neurobiol. 2021 Feb;47(2):283-296. doi: 10.1111/nan.12663. Epub 2020 Sep 28. Neuropathol Appl Neurobiol. 2021. PMID: 32896923
133 results