Search Results - "Beiras Iglesias, Andrés"

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene by Castro-Gago, Manuel, Dacruz-Alvarez, David, Pintos-Martínez, Elena, Beiras-Iglesias, Andrés, Arenas, Joaquín, Martín, Miguel Ángel, Martínez-Azorín, Francisco

“…Abstract Choline kinase beta gene ( CHKB ) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn…”
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Enzyme-Loaded Gel Core Nanostructured Lipid Carriers to Improve Treatment of Lysosomal Storage Diseases: Formulation and In Vitro Cellular Studies of Elosulfase Alfa-Loaded Systems by Álvarez, J., Herrero Filgueira, Carolina, González, Alexandre, Colón Mejeras, Cristóbal, Beiras Iglesias, Andrés, Tomatsu, Shunji, Blanco Méndez, José, Luzardo Álvarez, Asteria, Couce, María, Otero Espinar, Francisco

“…Mucopolysaccharidosis IVA (Morquio A) is a rare inherited metabolic disease caused by deficiency of the lysosomal enzyme…”
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Effects of Aluminium on Rat Brain Mitochondria Bioenergetics: an In vitro and In vivo Study by Iglesias-González, Javier, Sánchez-Iglesias, Sofía, Beiras-Iglesias, Andrés, Méndez-Álvarez, Estefanía, Soto-Otero, Ramón

“…Numerous studies have highlighted the potential of aluminium as an aetiological factor for some neurodegenerative disorders, particularly Alzheimer’s disease…”
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A simple method for isolating rat brain mitochondria with high metabolic activity: Effects of EDTA and EGTA by Iglesias-González, Javier, Sánchez-Iglesias, Sofía, Beiras-Iglesias, Andrés, Soto-Otero, Ramón, Méndez-Álvarez, Estefanía

“…Isolated mitochondria are widely used in metabolic and oxidative stress studies for neurodegenerative diseases. In the present work, the influence of EGTA and…”
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Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion by Castro-Gago, Manuel, Dacruz-Alvarez, David, Pintos-Martínez, Elena, Beiras-Iglesias, Andrés, Delmiro, Aitor, Arenas, Joaquín, Martín, Miguel Ángel, Martínez-Azorín, Francisco

“…Abstract Background Choline kinase beta gene ( CHKB ) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, but never in…”
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Increased lymphangiogenesis in Riedel thyroiditis (Immunoglobulin G4-related thyroid disease) by Cameselle-Teijeiro, José, Ladra, María Jesús, Abdulkader, Ihab, Eloy, Catarina, Soares, Paula, Barreiro, Francisco, Sobrinho-Simões, Manuel, Beiras-Iglesias, Andrés

“…The present study describes in depth a case of Riedel thyroiditis (RT) to clarify its pathogenesis and its putative inclusion in the spectrum of IgG4-related…”
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Congenital Hydranencephalic-Hydrocephalic Syndrome Associated With Mitochondrial Dysfunction by Castro-Gago, Manuel, Alonso, Adela, Pintos-Martinez, Elena, Beiras-Iglesias, Andrés, Campos, Yolanda, Arenas, Joaquin, Novo-Rodriguez, Maria Inés, Eiris-Punal, Jesus

“…We report the case of a 3-year-old girl, the only child of a nonconsanguineous couple without relevant antecedents, who was born with…”
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Corrigendum to “Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene” [Brain Dev. 38 (2016) 167–172] by Castro-Gago, Manuel, Dacruz-Alvarez, David, Pintos-Martínez, Elena, Beiras-Iglesias, Andrés, Arenas, Joaquín, Martín, Miguel Ángel, Martínez-Azorín, Francisco

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Leber's congenital amaurosis associated with mitochondrial dysfunction by Castro-Gago, M, Pintos-Martínez, E, Beiras-Iglesias, A, Maroto, S, Campos, Y, Arenas, J, Eirís-Puñal, J

“…We report the case histories of two 6-month-old girls, both with young, nonconsanguineous parents, referred to us for suspected blindness. In both cases,…”
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