Publications by authors named "Inmaculada Azorin"

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SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez-Fernández, Inmaculada Azorín

Ann Clin Transl Neurol· October 2025

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MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.
Irene Madrigal, Cristina Villar-Vera, Gemma Arca, Jesica Expósito-Escudero, Laia Rodríguez-Revenga, Inmaculada Azorin

Neuropathol Appl Neurobiol· June 2025

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Asymptomatic HyperCKemia in the Pediatric Population: A Prospective Study Utilizing Next-Generation Sequencing and Ancillary Tests.
Pilar Marti, Inmaculada Pitarch-Castellano, Nuria Muelas, Inmaculada Azorín, Lorena Fores

Neurology· January 2025

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Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Nuria Muelas, Lidón Carretero-Vilarroig, Pilar Martí, Inmaculada Azorín, Marina Frasquet

J Neurol· January 2025

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ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.
Javier Cabello-Murgui, Jesús Jiménez-Jiménez, Juan J Vílchez, Inmaculada Azorín, Pilar Martí-Martínez

Eur J Neurol· December 2024

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Insights into phenotypic variability caused by GARS1 pathogenic variants.
Jesús Jiménez-Jiménez, Irene Navarrete, Inmaculada Azorín, Pilar Martí, Roger Vílchez

Eur J Neurol· October 2024

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Expanding the Clinical Spectrum of -Associated Charcot-Marie-Tooth Disease.
Rafael Sivera, Ana L Pelayo-Negro, Ivonne Jericó, Cristina Domínguez-González, Alejandro Horga

Neurology· April 2024

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Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Javier Poyatos-García, Pilar Martí, Alessandro Liquori, Nuria Muelas, Inmaculada Pitarch, Inmaculada Azorin

Ann Neurol· November 2022

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A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Herminia Argente-Escrig, Juan J Vílchez, Marina Frasquet, Nuria Muelas, Inmaculada Azorín

Neuropathol Appl Neurobiol· August 2022

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Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Alejandro Montoya-Filardi, Honorio Barranco-González, Juan Jesus Vilchez Padilla

Clin Genet· February 2022

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A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.
Nuria Muelas, Marina Frasquet, Fernando Más-Estellés, Pilar Martí, Laura Martínez-Vicente

Eur J Neurol· April 2021

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Cardiac protein changes in ischaemic and dilated cardiomyopathy: a proteomic study of human left ventricular tissue.
Esther Roselló-Lletí, Jana Alonso, Raquel Cortés, Luis Almenar, Luis Martínez-Dolz

J Cell Mol Med· October 2012

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Differences in MEF2 and NFAT transcriptional pathways according to human heart failure aetiology.
Raquel Cortés, Miguel Rivera, Esther Roselló-Lletí, Luis Martínez-Dolz, Luis Almenar

PLoS One· June 2012

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Influence of heart failure on nucleolar organization and protein expression in human hearts.
Esther Roselló-Lletí, Miguel Rivera, Raquel Cortés, Inmaculada Azorín, Rafael Sirera

Biochem Biophys Res Commun· February 2012

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Influence of heart failure on nucleocytoplasmic transport in human cardiomyocytes.
Raquel Cortés, Esther Roselló-Lletí, Miguel Rivera, Luis Martínez-Dolz, Antonio Salvador

Cardiovasc Res· February 2010

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Prenatal ethanol exposure alters the cytoskeleton and induces glycoprotein microheterogeneity in rat newborn hepatocytes.
Inmaculada Azorín, Manuel Portolés, Pilar Marín, Francisco Lázaro-Diéguez, Luis Megías

Alcohol Alcohol· August 2004

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Chronic ethanol consumption enhances interleukin-1-mediated signal transduction in rat liver and in cultured hepatocytes.
Soraya L Valles, Ana M Blanco, Inmaculada Azorin, Rosa Guasch, María Pascual

Alcohol Clin Exp Res· December 2003

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