Found: 6

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  • A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

    Published in:
    2017
    By:
    • Serrano, Natalia Lourdes;
    • De Diego, Victor;
    • Cuadras, Daniel;
    • Monseny, Antonio F. Martinez;
    • Velázquez-Fragua, Ramón;
    • López, Laura;
    • Felipe, Ana;
    • Gutiérrez-Solana, Luis G.;
    • Macaya, Alfons;
    • Pérez-Dueñas, Belén;
    • Serrano, Mercedes;
    • Martinez Monseny, Antonio F;
    • CDG Spanish-Consortium
    Publication type:
    journal article

  • AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).

    Published in:
    2019
    By:
    • 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
    Publication type:
    journal article

  • Pascual-Castroviejo type II syndrome (P-CIIS). Importance of the presence of persistent embryonic arteries.

    Published in:
    Child's Nervous System, 2011, v. 27, n. 4, p. 617, doi. 10.1007/s00381-010-1242-7
    By:
    • Pascual-Castroviejo, Ignacio;
    • Alvarez-Linera, Juan;
    • Coya, Juan;
    • Viaño, Juan;
    • Pascual-Pascual, Samuel-Ignacio;
    • Velázquez-Fragua, Ramón;
    • López-Gutiérrez, Juan-Carlos
    Publication type:
    Article

  • Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.

    Published in:
    Neuroradiology, 2022, v. 64, n. 11, p. 2179, doi. 10.1007/s00234-022-02989-8
    By:
    • Alfonsi, Chiara;
    • Stephan-Otto, Christian;
    • Cortès-Saladelafont, Elisenda;
    • Palacios, Natalia Juliá;
    • Podzamczer-Valls, Inés;
    • Cruz, Nuria Gutiérrez;
    • Jiménez, María Rosario Domingo;
    • Micó, Salvador Ibáñez;
    • Vila, Miguel Tomás;
    • Jeltsch, Kathrin;
    • Hübschmann, Oya Kuseyri;
    • Opladen, Thomas;
    • Fragua, Ramón Velázquez;
    • Gómez, Teresa;
    • Fortuny, Oscar Alcoverro;
    • Jiménez, Inmaculada García;
    • Laso, Eduardo López;
    • Martínez, Ana Roche;
    • López, Jordi Muchart;
    • Garcia-Cazorla, Àngels
    Publication type:
    Article

  • Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1083, doi. 10.1007/s10545-011-9323-7
    By:
    • Pérez-Poyato, María-Socorro;
    • Milà Recansens, Montserrat;
    • Ferrer Abizanda, Isidre;
    • Montero Sánchez, Raquel;
    • Rodríguez-Revenga, Laia;
    • Cusí Sánchez, Victoria;
    • García González, M.;
    • Domingo Jiménez, Rosario;
    • Camino León, Rafael;
    • Velázquez Fragua, Ramón;
    • Martínez-Bermejo, Antonio;
    • Pineda Marfà, Mercè
    Publication type:
    Article

  • Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2222, doi. 10.1002/ajmg.a.61778
    By:
    • Pacio Miguez, Marta;
    • Santos‐Simarro, Fernando;
    • García‐Miñaúr, Sixto;
    • Velázquez Fragua, Ramón;
    • Pozo, Ángela;
    • Solís, Mario;
    • Jiménez Rodríguez, Carmen;
    • Rufo‐Rabadán, Virginia;
    • Fernandez, Victoria Eugenia;
    • Rueda, Inmaculada;
    • Gomez del Pozo, Maria Victoria;
    • Gallego, Natividad;
    • Lapunzina, Pablo;
    • Palomares‐Bralo, María
    Publication type:
    Article