Výsledky vyhledávání - José M. Millán
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AMPK activation protects from neuronal dysfunction and vulnerability across nematode, cellular and mouse models of Huntington's disease Autor Rafael P. Vázquez‐Manrique, Francesca Farina, Karine Cambon, María Dolores Sequedo, Alex Parker, José M. Millán, Andreas Weiss, Nicole Déglon, Christian Néri
Vydáno 2015Artigo -
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Metformin treatment reduces motor and neuropsychiatric phenotypes in the zQ175 mouse model of Huntington disease Autor Ana Sanchís, María Adelaida García-Gimeno, Antonio José Cañada Martínez, María Dolores Sequedo, José M. Millán, Pascual Sanz, Rafael P. Vázquez‐Manrique
Vydáno 2019Artigo -
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Clinical Aspects of Usher Syndrome and the<i>USH2A</i>Gene in a Cohort of 433 Patients Autor Fiona Blanco‐Kelly, Teresa Jaijo, Elena Aller, Almudena Ávila‐Fernández, María Isabel López-Molina, Ascensión Giménez, Blanca Garcı́a-Sandoval, José M. Millán, Carmen Ayuso
Vydáno 2014Artigo -
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Lipid Oxidation at the Crossroads: Oxidative Stress and Neurodegeneration Explored in Caenorhabditis elegans Autor Julia Tortajada-Pérez, Andrea del Valle Carranza, Cristina Trujillo-Del Río, Mar Collado-Pérez, José M. Millán, Gema García‐García, Rafael P. Vázquez‐Manrique
Vydáno 2025Revisão -
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Experience of targeted Usher exome sequencing as a clinical test Autor Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, José M. Millán, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux
Vydáno 2013Artigo -
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High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative Autor Carla Fuster‐García, Gema García‐García, Teresa Jaijo, Neus Fornés, Carmen Ayuso, Miguel Fernández‐Burriel, Ana Sánchez-De la Morena, Elena Aller, José M. Millán
Vydáno 2018Artigo -
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Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies Autor Ana Rodríguez‐Muñoz, Elena Aller, Teresa Jaijo, Emilio González García, Ana Cabrera-Peset, Roberto Gallego-Pinazo, Patricia Udaondo, David Salom, Gema García‐García, José M. Millán
Vydáno 2020Artigo -
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Altered Antioxidant-Oxidant Status in the Aqueous Humor and Peripheral Blood of Patients with Retinitis Pigmentosa Autor Cristina Martínez-Fernández de la Cámara, David Salom, Ma Dolores Sequedo, David Hervás, C. Marín-Lambíes, Elena Aller, Teresa Jaijo, M. Díaz-Llopis, José M. Millán, Regina Rodrigo
Vydáno 2013Artigo -
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Targeted next generation sequencing for molecular diagnosis of Usher syndrome Autor María José Aparisi, Elena Aller, Carla Fuster‐García, Gema García‐García, Regina Rodrigo, Rafael P. Vázquez‐Manrique, Fiona Blanco‐Kelly, Carmen Ayuso, Anne‐Françoise Roux, Teresa Jaijo, José M. Millán
Vydáno 2014Artigo -
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A Genetic Basis for Mechanosensory Traits in Humans Autor H Frenzel, Jörg Bohlender, Katrin Pinsker, B. Wohlleben, Jens Tank, Stefan G. Lechner, Daniela Schiska, Teresa Jaijo, Franz Rüschendorf, Kathrin Saar, Jens Jordan, José M. Millán, Manfred Gross, Gary R. Lewin
Vydáno 2012Artigo -
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Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration Autor Carmen Espinós, Máximo Ibo Galindo, María Adelaida García-Gimeno, José Santiago Ibáñez-Cabellos, Dolores Martínez‐Rubio, José M. Millán, Regina Rodrigo, Pascual Sanz, Marta Seco-Cervera, Teresa Sevilla, Andrea Tapia, Federico V. Pallardó
Vydáno 2020Revisão
Vyhledávací nástroje:
Související témata
Biology
Genetics
Medicine
Gene
Retinitis pigmentosa
Phenotype
Mutation
Usher syndrome
Internal medicine
Disease
Neuroscience
Bioinformatics
Audiology
Exon
Genetic heterogeneity
Genotype
Hearing loss
Pathology
Allele
Cell biology
Population
Retinal
Retinal degeneration
DNA sequencing
Endocrinology
Environmental health
Huntingtin
Huntington's disease
Ophthalmology
Oxidative stress