Search for 'an,phr: 624'

A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.

By Fuenmayor Fernández de la Hoz, Carlos Pablo de | Domínguez González, Cristina | Gonzalo Martínez, Juan Francisco | Esteban Pérez, Jesús | Arenas Barbero, Joaquín | Martín, Miguel Ángel | Hernández Laín, Aurelio. Muscle & nerve, 2016 , Formato Vancouver: Fuenmayor Fernández De La Hoz CP, Domínguez González C, Gonzalo Martínez JF, Esteban Pérez J, Fernández Marmiesse A et al. A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation. Muscle Nerve. 2016 Oct;54(4):806-8. doi: 10.1002/mus.25183. Epub 2016 Jun 9. PMID: 27169979.

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Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.

By Martín, Miguel Ángel | Blázquez Encinar, Alberto | Delmiro Magdalena, Aitor | Hernández Laín, Aurelio. Neurology, 2015 . 84(22):2286-8. , Formato Vancouver: Cámara Y, Carreño Gago L, Martín MA, Melià MJ, Blázquez A, Delmiro A et al. Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy. Neurology. 2015 Jun 2;84(22):2286-8.

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Preclinical Test of Dacomitinib, an Irreversible EGFR Inhibitor, Confirms Its Effectiveness for Glioblastoma.

By Pérez Núñez, Ángel | Cantero, Diana | Hernández Laín, Aurelio. Molecular cancer therapeutics, 2015 . 14(7):1548-58. , Formato Vancouver: Zahonero C, Aguilera P, Ramírez Castillejo C, Pajares M, Bolós MV, Cantero D et al. Preclinical Test of Dacomitinib, an Irreversible EGFR Inhibitor, Confirms Its Effectiveness for Glioblastoma. Mol Cancer Ther. 2015 Jul;14(7):1548-58.

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PET-Florbetapir findings in primary cerebral amyloidoma.

By Villarejo Galende, Alberto | Sarandeses Fernández, Pilar | Hernández Laín, Aurelio | Ramos González, Ana | Carro Díaz, Eva | Ricoy Campo, José Ramón | Hernández Gallego, Jesús. Journal of neurology, 2015 . 262(4):1052-4. , Formato Vancouver: Villarejo Galende A, Sarandeses P, Penas Prado M, Hernández Laín A, Ramos A, Hernández Martínez AC et al. PET-Florbetapir findings in primary cerebral amyloidoma. J Neurol. 2015;262(4):1052-4.

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Mitochondrial cardiomyopathies associated with the m.3243A>G mutation in the MT-TL1 gene: two sides of the same coin.

By Hernández Laín, Aurelio. Revista española de cardiología (English ed.), 2015 . 68(2):153-5. , Formato Vancouver: Gallego Delgado M, Cobo Marcos M, Bornstein B, Hernández Laín A, Alonso Pulpón L, Garcia Pavia P. Mitochondrial cardiomyopathies associated with the m.3243A>G mutation in the MT-TL1 gene: two sides of the same coin. Rev Esp Cardiol (Engl Ed). 2015 Feb;68(2):153-5.

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Controlled release microspheres loaded with BMP7 suppress primary tumors from human glioblastoma.

By Hernández Laín, Aurelio. Oncotarget, 2015 . 6(13):10950-63. , Formato Vancouver: González Gómez P, Crecente Campo J, Zahonero C, de la Fuente M, Hernández Laín A, Mira H et al. Controlled release microspheres loaded with BMP7 suppress primary tumors from human glioblastoma. Oncotarget. 2015 May 10;6(13):10950-63.

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Rabdomiólisis aguda en una paciente portadora en heterocigosis de una mutación no descrita en el gen PNPLA2.

By Pinel, Ana | Hernández Laín, Aurelio. Revista de neurología, 2015 . 61(11):525-6. , Formato Vancouver: Pinel A, Hernández Laín A, Gil Fournier B, Ramiro León S. Rabdomiólisis aguda en una paciente portadora en heterocigosis de una mutación no descrita en el gen PNPLA2. Rev Neurol. 2015 Dec 1;61(11):525-6.

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Mononeuropatía múltiple por lepra: descripción de un caso con presentación atípica.

By Hernández Laín, Aurelio. Neurología (Barcelona, Spain) 2014 . 29(5):313-4. , Formato Vancouver: Pedraza Hueso MI, Hinojosa Mena-Bernal C, Hernández-Laín A, Guerrero Peral AL. Mononeuropatía múltiple por lepra: descripción de un caso con presentación atípica. Neurologia. 2014 Jun;29(5):313-4.

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Proyecto Técnico de Gestión. Jefatura de Sección de Anatomía Patológica

By Hernández Laín, Aurelio. Madrid : Hospital Universitario 12 de Octubre, 2019 . 109 p. ; 30 cm..

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Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.

By Simón de las Heras, Rogelio | Camacho Salas, Ana | Hernández Laín, Aurelio. Journal of child neurology, 2014 . 29(2):289-94. , Formato Vancouver: Raducu M, Cotarelo RP, Simón R, Camacho A, Rubio-Fernández M, Hernández-Laín A et al. Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene. J Child Neurol. 2014 Feb;29(2):289-94.

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Tumefactive multiple sclerosis requiring emergency craniotomy: Case report and literature review.

By Castaño León, Ana María | Hernández Laín, Aurelio | Lagares Gómez-Abascal, Alfonso | Martinez Perez, Rafael | Martín Munárriz, Pablo | Ramos González, Ana. Neurocirugía, 2013 . 24(5):220-4. , Formato Vancouver: Munarriz PM, Castaño-León AM, Martínez-Pérez R, Hernández-Laín A, Ramos A, Lagares A. Tumefactive multiple sclerosis requiring emergency craniotomy: case report and literature review. Neurocirugia (Astur). 2013 Sep-Oct;24(5):220-4.

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Codeletion of 1p and 19q determines distinct gene methylation and expression profiles in IDH-mutated oligodendroglial tumor.s

By Ruano Domínguez, Yolanda | Hernández Laín, Aurelio. Acta neuropathologica, 2013 . 126(2):277-89. , Formato Vancouver: Mur P, Mollejo M, Ruano Y, de Lope ÁR, Fiaño C, García JF et al. Codeletion of 1p and 19q determines distinct gene methylation and expression profiles in IDH-mutated oligodendroglial tumors. Acta Neuropathol. 2013 Aug;126(2):277-89.

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Inhibition of DYRK1A destabilizes EGFR and reduces EGFR-dependent glioblastoma growth.

By Pérez Núñez, Ángel | Ricoy Campo, José Ramón | Sepúlveda Sánchez, Juan Manuel | Hernández Laín, Aurelio. Journal of Clinical Investigation, 2013 . 123(6):2475-87. , Formato Vancouver: Pozo N, Zahonero C, Fernández P, Liñares JM, Ayuso A, Hagiwara M et al. Inhibition of DYRK1A destabilizes EGFR and reduces EGFR-dependent glioblastoma growth. J Clin Invest. 2013 Jun;123(6):2475-87.

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Integrated analysis of mismatch repair system in malignant astrocytomas.

By Hernández Laín, Aurelio. PloS one, 2013 . 8(9):e76401. , Formato Vancouver: Rodríguez-Hernández I, García JL, Santos-Briz A, Hernández-Laín A, González-Valero JM, Gómez-Moreta JA et al. Integrated analysis of mismatch repair system in malignant astrocytomas. PLoS One. 2013 Sep 20;8(9):e76401.

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Acute neurological deterioration as a result of two synchronous hemorrhagic spinal ependymomas

By Castaño León, Ana María | Hernández Laín, Aurelio | Lagares Gómez-Abascal, Alfonso | Martinez Perez, Rafael | Martín Munárriz, Pablo | Paredes Sansinenea, Ígor. Surgical Neurology International, 2012 . 3:33. , Formato Vancouver: Martínez-Pérez R, Hernández-Laín A, Paredes I, Munárriz PM, Castaño-León AM,Lagares A. Acute neurological deterioration as a result of two synchronous hemorrhagic spinal ependymomas. Surg Neurol Int. 2012;3:33.

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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

By Hernández Laín, Aurelio. Orphanet Journal of Rare Diseases, 2012 . 23;7:82. , Formato Vancouver: Juan-Mateu J, Rodríguez MJ, Nascimento A, Jiménez-Mallebrera C, González-Quereda L, Rivas E, et al. Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy. Orphanet J Rare Dis. 2012 Oct 23;7:82.

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The added value of apparent diffusion coefficient to cerebral blood volume in the preoperative grading of diffuse gliomas

By González León, Pedro | Hernández Laín, Aurelio | Hilario Barrio, Amaya | Lagares Gómez-Abascal, Alfonso | Millán Juncos, José María | Pérez Núñez, Ángel | Ramos González, Ana | Ricoy Campo, José Ramón | Salvador Álvarez, Elena | Sepúlveda Sánchez, Juan Manuel. American Journal of Neuroradiology, 2011 . 33(4):701-707. , Formato Vancouver: Hilario A, Ramos A, Perez-Nuñez A, Salvador E, Millan JM, Lagares A, et al. The added value of apparent diffusion coefficient to cerebral blood volume in the preoperative grading of diffuse gliomas. AJNR Am J Neuroradiol. 2012;33(4):701-7.

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Functional evaluation of paraplegic monkeys (Macaca mulatta) over fourteen months post-lesion

By Hernández Laín, Aurelio. Neuroscience Research, 2011 . 69(2):144-153. , Formato Vancouver: Hernández-Laín A, Piedras MJ, Cavada C. Functional evaluation of paraplegic monkeys (Macaca mulatta) over fourteen months post-lesion. Neurosci Res. 2011Feb;69(2):144-53.

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Clinical care and evolution of paraplegic monkeys (Macaca mulatta) over fourteen months post-lesion

By Hernández Laín, Aurelio. Neuroscience Research, 2011 . 69(2):135-143. , Formato Vancouver: Piedras MJ, Hernández-Laín A, Cavada C. Clinical care and evolution of paraplegic monkeys (Macaca mulatta) over fourteen months post-lesion. Neurosci Res. 2011 Feb;69(2):135-43.

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de novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

By Hernández Laín, Aurelio. European Journal of Medical Genetics, 2011 . 54(1):29-33. , Formato Vancouver: Hernandez-Lain A, Husson I, Monnier N, Farnoux C, Brochier G, Lacène E, et al. De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins. Eur J Med Genet. 2011;54(1):29-33.

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Pathology of bilateral pulvinar degeneration following long duration status epilepticus

By Hernández Laín, Aurelio. Seizure, 2013 . 22(10):901-904. , Formato Vancouver: Hernández Laín A, Hedley-Whyte ET, Hariri LP, Molyneaux B, Nagle KJ, Cole AJ, et al. Pathology of bilateral pulvinar degeneration following long duration status epilepticus. Seizure. 2013;22(10):901-4.

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