Publications by authors named "Carmen Prior"

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MOG1 -mediated increase in late sodium current produces Long QT Syndrome.
Paula G Socuéllamos, Juan Manuel Ruiz-Robles, Francisco M Cruz, Álvaro Macías, Alba Vera-Zambrano, Carmen Prior

medRxiv· December 2025

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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Carmen Prior

Brain· August 2023

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Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.
Clara Gómez-González, Rocío Rosas-Alonso, Carlos Rodríguez-Antolín, Alvaro García-Guede, Inmaculada Ibáñez de Caceres, Carmen Prior

Eur J Med Genet· April 2021

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A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease.
Carmen Prior, Maria Muñoz-Calero, Clara Gómez-Gonzalez, Paloma Martinez-Montero, Luis Barrio

J Neurol Sci· February 2019

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A SCN4A mutation causing paramyotonia congenita.
Carmen Palma, Carmen Prior, Clara Gómez-González, Carlos Rodríguez-Antolin, Paloma Martínez-Montero

Neuromuscul Disord· December 2017

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Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing.
Clara Gómez-González, Maria Isabel Esteban-Rodríguez, Yolanda Ruano, Elena Vallespín, Pablo Lapunzina, Carmen Prior

Ann Indian Acad Neurol· January 2017

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Fast skeletal myofibers of mdx mouse, model of Duchenne muscular dystrophy, express connexin hemichannels that lead to apoptosis.
Luis A Cea, Carlos Puebla, Bruno A Cisterna, Rosalba Escamilla, Aníbal A Vargas, Carmen Prior

Cell Mol Life Sci· July 2016

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Normal HPRT coding region in complete and partial HPRT deficiency.
Marta G García, Rosa J Torres, Carmen Prior, Juan G Puig

Mol Genet Metab· June 2008

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Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Rosa J Torres, Carmen Prior, Juan G Puig

Metabolism· September 2007

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Adenosine transport in peripheral blood lymphocytes from Lesch-Nyhan patients.
Rosa J Torres, Isabel Deantonio, Carmen Prior, Juan G Puig

Biochem J· February 2004

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