Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
Izquierdo-Serra, Mercè, Martínez-Monseny, Antonio F, López, Laura, Carrillo-García, Julia, Edo, Albert, Ortigoza-Escobar, Juan Darío, García, Óscar, Cancho-Candela, Ramón, Carrasco-Marina, M Llanos, Gutiérrez-Solana, Luis G, Cuadras, Daniel, Muchart, Jordi, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Macaya, Alfons, Fernández-Fernández, José M, Serrano, Mercedes
Published in International journal of molecular sciences (22.02.2018)
Published in International journal of molecular sciences (22.02.2018)
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Journal Article
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)
Martínez‐Monseny, Antonio F., Bolasell, Mercè, Callejón‐Póo, Laura, Cuadras, Daniel, Freniche, Verónica, Itzep, Débora C., Gassiot, Susanna, Arango, Pedro, Casas‐Alba, Didac, Morena, Eugenia, Corral, Javier, Montero, Raquel, Pérez‐Cerdá, Celia, Pérez, Belén, Artuch, Rafael, Jaeken, Jaak, Serrano, Mercedes, Velázquez‐Fragua, Ramón, García, Oscar, Gutierrez‐Solana, Luis G, Macaya, Alfons, Pérez‐Dueñas, Belén, Aguilera‐Albesa, Sergio, López, Laura, Miranda, Ma Concepción, Carratala, Francisco, Yoldi, M Eugenia, López‐Laso, Eduardo, Sierra‐Córcoles, Ma Concepción, Sebastián‐García, Irma, Aísa, Eduardo, Cancho‐Candela, Ramon, Carrasco‐Marina, M Llanos, Couce, María L., Roldán, Susana, Muchart, Jordi, Morales, Montserrat, Conde‐Lorenzo, Noemi
Published in Annals of neurology (01.05.2019)
Published in Annals of neurology (01.05.2019)
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Journal Article
Distrofia muscular congénita de tipo Ullrich. Utilidad de la resonancia magnética muscular en el diagnóstico
Carrasco Marina, Mª Llanos, Quijano Roy, Susana, Iglesias Escalera, Gema, Jorge Blanco, Ana, Carro Martínez, Ana, Gutiérrez Cruz, Núria
Published in Revista de neurologiá (01.07.2015)
Published in Revista de neurologiá (01.07.2015)
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Journal Article
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Martinez-Monseny, Antonio, Cuadras, Daniel, Bolasell, Mercè, Muchart, Jordi, Arjona, César, Borregan, Mar, Algrabli, Adi, Montero, Raquel, Artuch, Rafael, Velázquez-Fragua, Ramón, Macaya, Alfons, Pérez-Cerdá, Celia, Pérez-Dueñas, Belén, Pérez, Belén, Serrano, Mercedes
Published in Journal of medical genetics (01.04.2019)
Published in Journal of medical genetics (01.04.2019)
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Journal Article
Psychomotor development in late preterms at two years of age: a comparison with full-term newborn infants using two different instruments
Gutierrez-Cruz, N, Torres-Mohedas, J, Carrasco-Marina, M L, Olabarrieta-Arnal, I, Martin-Del Valle, F, Garcia-Garcia, M L
Published in Revista de neurologiá (16.06.2019)
Published in Revista de neurologiá (16.06.2019)
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Journal Article
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Itzep, Débora, Martínez-Monseny, Antonio F, Bolasell, Mercè, Cuadras, Daniel, Velázquez-Fragua, Ramón, Gutierrez-Solana, Luis G, Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes
Published in Neuropediatrics (01.12.2018)
Published in Neuropediatrics (01.12.2018)
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Journal Article
Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene
Garcia-Ezquiaga, J, Carrasco-Marina, M L, Gutierrez-Cruz, N, Iglesias-Escalera, G, Castro-Reguera, M, Perez-Gonzalez, B
Published in Revista de neurologiá (01.10.2019)
Published in Revista de neurologiá (01.10.2019)
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Journal Article
Desarrollo psicomotor en prematuros tardíos a los dos años de edad: comparación con recién nacidos a término mediante dos herramientas diferentes
Gutiérrez Cruz, Nuria, Torres Mohedas, Julián, Carrasco Marina, Mª Llanos, Olabarrieta Arnal, Icíar, Martín del Valle, Fernando, García García, Mª Luz
Published in Revista de neurologiá (2019)
Published in Revista de neurologiá (2019)
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Journal Article
Ullrich congenital muscular dystrophy. The usefulness of muscular magnetic resonance imaging in its diagnosis
Carrasco-Marina, M Llanos, Quijano-Roy, Susana, Iglesias-Escalera, Gemma, Jorge-Blanco, Ana, Carro-Martinez, Ana, Gutierrez-Cruz, Nuria
Published in Revista de neurologiá (01.07.2015)
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Published in Revista de neurologiá (01.07.2015)
Journal Article
Ullrich congenital muscular dystrophy. The usefulness of muscular magnetic resonance imaging in its diagnosis
Carrasco-Marina, M Llanos, Quijano-Roy, Susana, Iglesias-Escalera, Gemma, Jorge-Blanco, Ana, Carro-Martinez, Ana, Gutierrez-Cruz, Nuria
Published in Revista de neurologia (01.07.2015)
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Published in Revista de neurologia (01.07.2015)
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