Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
Stemerdink, M., García-Bohórquez, B., Schellens, R., Garcia-Garcia, G., Van Wijk, E., Millan, J. M.
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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Synergistic activation of AMPK prevents from polyglutamine-induced toxicity in Caenorhabditis elegans
Gómez-Escribano, AP, Bono-Yagüe, J, García-Gimeno, MA, Sequedo, MD, Hervás, D, Fornés-Ferrer, V, Torres-Sánchez, SC, Millán, JM, Sanz, P, Vázquez-Manrique, RP
Published in Pharmacological research (01.11.2020)
Published in Pharmacological research (01.11.2020)
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The PINK1 kinase-driven ubiquitin ligase Parkin promotes mitochondrial protein import through the presequence pathway in living cells
Jacoupy, M, Hamon-Keromen, E, Ordureau, A, Erpapazoglou, Z, Coge, F, Corvol, J-C, Nosjean, O, Mannoury la Cour, C, Millan, M J, Boutin, J A, Harper, J W, Brice, A, Guedin, D, Gautier, C A, Corti, O
Published in Scientific reports (14.08.2019)
Published in Scientific reports (14.08.2019)
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The Added Value of Apparent Diffusion Coefficient to Cerebral Blood Volume in the Preoperative Grading of Diffuse Gliomas
HILARIO, A, RAMOS, A, PEREZ-NUNEZ, A, SALVADOR, E, MILLAN, J. M, LAGARES, A, SEPULVEDA, J. M, GONZALEZ-LEON, P, HERNANDEZ-LAIN, A, RICOY, J. R
Published in American journal of neuroradiology : AJNR (01.04.2012)
Published in American journal of neuroradiology : AJNR (01.04.2012)
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The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
Bernal, S, Alías, L, Barceló, M J, Also-Rallo, E, Martínez-Hernández, R, Gámez, J, Guillén-Navarro, E, Rosell, J, Hernando, I, Rodríguez-Alvarez, F J, Borrego, S, Millán, J M, Hernández-Chico, C, Baiget, M, Fuentes-Prior, P, Tizzano, E F
Published in Journal of medical genetics (01.09.2010)
Published in Journal of medical genetics (01.09.2010)
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Physical interaction between the serotonin transporter and neuronal nitric oxide synthase underlies reciprocal modulation of their activity
Chanrion, B, Mannoury la Cour, C, Bertaso, F, Lerner-Natoli, M, Freissmuth, M, Millan, M.J, Bockaert, J, Marin, P
Published in Proceedings of the National Academy of Sciences - PNAS (08.05.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (08.05.2007)
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Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
Sevilla, T, Martínez-Rubio, D, Márquez, C, Paradas, C, Colomer, J, Jaijo, T, Millán, JM, Palau, F, Espinós, C
Published in Clinical genetics (01.06.2013)
Published in Clinical genetics (01.06.2013)
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Severe Traumatic Head Injury: Prognostic Value of Brain Stem Injuries Detected at MRI
HILARIO, A, RAMOS, A, MILLAN, J. M, SALVADOR, E, GOMEZ, P. A, CICUENDEZ, M, DIEZ-LOBATO, R, LAGARES, A
Published in American journal of neuroradiology : AJNR (01.11.2012)
Published in American journal of neuroradiology : AJNR (01.11.2012)
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Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene
Alías, L., Barceló, M.J., Bernal, S., Martínez-Hernández, R., Also-Rallo, E., Vázquez, C., Santana, A., Millán, J.M., Baiget, M., Tizzano, E.F.
Published in Clinical genetics (01.05.2014)
Published in Clinical genetics (01.05.2014)
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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
Claramunt, R, Pedrola, L, Sevilla, T, López de Munain, A, Berciano, J, Cuesta, A, Sánchez-Navarro, B, Millán, J M, Saifi, G M, Lupski, J R, Vílchez, J J, Espinós, C, Palau, F
Published in Journal of medical genetics (01.04.2005)
Published in Journal of medical genetics (01.04.2005)
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Acute perfusion changes after spontaneous SAH: a perfusion CT study
Lagares, Alfonso, Cicuendez, Marta, Ramos, Ana, Salvador, Elena, Alén, Jose F., Kaen, Ariel, Jiménez-Roldán, Luis, Millán, J. M.
Published in Acta neurochirurgica (01.03.2012)
Published in Acta neurochirurgica (01.03.2012)
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Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients
Muelas, N, Hackman, P, Luque, H, Suominen, T, Espinós, C, Garcés-Sánchez, M, Sevilla, T, Azorín, I, Millán, JM, Udd, B, Vílchez, JJ
Published in Clinical genetics (01.05.2012)
Published in Clinical genetics (01.05.2012)
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Journal Article
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II
Aller, E, Jaijo, T, Beneyto, M, Nájera, C, Oltra, S, Ayuso, C, Baiget, M, Carballo, M, Antiñolo, G, Valverde, D, Moreno, F, Vilela, C, Collado, D, Pérez-Garrigues, H, Navea, A, Millán, J M
Published in Journal of medical genetics (01.11.2006)
Published in Journal of medical genetics (01.11.2006)
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Journal Article
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4
Claramunt, R, Sevilla, T, Lupo, V, Cuesta, A, Millán, JM, Vílchez, JJ, Palau, F, Espinós, C
Published in Clinical genetics (01.04.2007)
Published in Clinical genetics (01.04.2007)
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Apolipoprotein E and β‐amyloid (1–42) regulation of glycogen synthase kinase‐3β
Cedazo‐Mínguez, A., Popescu, B. O., Blanco‐Millán, J. M., Akterin, S., Pei, J‐J., Winblad, B., Cowburn, R. F.
Published in Journal of neurochemistry (01.12.2003)
Published in Journal of neurochemistry (01.12.2003)
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Functional analysis of splicing mutations in MYO7A and USH2A genes
Jaijo, T, Aller, E, Aparisi, MJ, García-García, G, Hernan, I, Gamundi, MJ, Nájera, C, Carballo, M, Millán, JM
Published in Clinical genetics (01.03.2011)
Published in Clinical genetics (01.03.2011)
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Ketamine enhances structural plasticity in mouse mesencephalic and human iPSC-derived dopaminergic neurons via AMPAR-driven BDNF and mTOR signaling
Cavalleri, L, Merlo Pich, E, Millan, M J, Chiamulera, C, Kunath, T, Spano, P F, Collo, G
Published in Molecular psychiatry (01.04.2018)
Published in Molecular psychiatry (01.04.2018)
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Simultaneous quantification of serotonin, dopamine and noradrenaline levels in single frontal cortex dialysates of freely-moving rats reveals a complex pattern of reciprocal auto- and heteroreceptor-mediated control of release
Gobert, A, Rivet, J.-M, Audinot, V, Newman-Tancredi, A, Cistarelli, L, Millan, M.J
Published in Neuroscience (01.05.1998)
Published in Neuroscience (01.05.1998)
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