Publicaciones
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de Diego V, Martinez-Monseny T, Muchart-Lopez J, Cuadras-Palleja D, Montero-Sanchez R, Artuch-Iriberri R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A and Serrano M.
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
JOURNAL OF INHERITED METABOLIC DISEASE . 40(5): 709-713. Nº de citas: 14
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Puerta-Roldan P, Guillen-Quesada A, Carrasco-Torrents R, Muchart-Lopez J, Serrano M and Ferrer Vidal-Barraquer E.
Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge
REVISTA DE NEUROLOGIA . 65(3): 112-116. Nº de citas: 2
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Serrano M.
Untreatable Fits of Hyperventilation/Apnea in Pitt-Hopkins Syndrome
Global Journal of Intellectual & Developmental Disabilities . 1(2): 555573.
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Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Marti-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH and Crow YJ.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Neuropediatrics . 48(3): 166-184. Nº de citas: 52
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Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, Garcia-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JL, Ugarte M, Pérez B, Pérez-Cerdá C and Rodríguez-Pombo P.
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease
HUMAN MUTATION . 38(6): 678-691. Nº de citas: 13
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Suades-González E, Forns J, García-Esteban R, López-Vicente M, Esnaola M, Álvarez-Pedrerol M, Julvez J, Cáceres A, Basagaña X, López-Sala A and Sunyer J.
A Longitudinal Study on Attention Development in Primary School Children with and without Teacher-Reported Symptoms of ADHD.
FRONTIERS IN PSYCHOLOGY . 8: 655-655. Nº de citas: 36
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Andrade-Campos M, Alfonso P, Irun P, Armstrong-Moron J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan-Gordo M, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M and Giraldo P.
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
ORPHANET JOURNAL OF RARE DISEASES . 12: 84-84. Nº de citas: 22
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Colón C, Alvarez JV, Castaño C, Gutierrez-Solana LG, Marquez AM, O'Callaghan-Gordo M, Sánchez-Valverde F, Yeste C and Couce ML.
A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.
Medicine . 96(19): . Nº de citas: 11
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Laporta O, Ballester J, Poo P, Macaya A, Meléndez-Plumed M, Vázquez E, Delgado I, Zubiaurre-Elorza L, Botellero VL, Narberhaus A, Toro-Tamargo E, Segarra D and Pueyo R.
Proxy-reported quality of life in adolescents and adults with dyskinetic cerebral palsy is associated with executive functions and cortical thickness.
QUALITY OF LIFE RESEARCH . 26(5): 1209-1222. Nº de citas: 18
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Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez-Dueñas B, Medrano C, García-Alix A, Artuch-Iriberri R, Briones P and Pérez B.
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis
JOURNAL OF PEDIATRICS . 183: 170-170. Nº de citas: 22