Publicacions
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Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart-Lopez J, Cortes F, Hernando-Davalillo C, Montero-Sanchez R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S and Serrano M.
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
HUMAN MUTATION . 42(2): 142-149. Nº de cites: 6
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Cruz-Martínez O, Caloretti V, Salvador-Hernandez H, Celis-Passini V, Santa-María López V, Morales-La Madrid A, Suñol M, Puerta P, Muchart-Lopez J, Krauel L and Lavarino C.
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome
HEREDITARY CANCER IN CLINICAL PRACTICE . 19(1): 1-1.
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Nalpas, N, Hoyles, L, Anselm, V, Ganief, T, Martinez-Gili, L, Grau-Páez C, Droste-Borel, I, Davidovic, L, Altafaj, X, Dumas, ME and Macek, B.
An integrated workflow for enhanced taxonomic and functional coverage of the mouse fecal metaproteome
Gut Microbes . 13(1): . Nº de cites: 3
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Ferreira CR, Rahman S, Keller M, Zschocke J and ICIMD Advisory Group.
An international classification of inherited metabolic disorders (ICIMD)
JOURNAL OF INHERITED METABOLIC DISEASE . 44(1): 164-177. Nº de cites: 87
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Rubio-Gozalbo, ME, Derks, B, Das, AM, Meyer, U, Moslinger, D, Couce, ML, Empain, A, Ficicioglu, C, Julià-Palacios NA, de los Santos MM, Rivera, IA, Scholl-Burgi, S, Bosch, AM, Cassiman, D, Demirbas, D, Gautschi, M, Knerr, I, Labrune, P, Skouma, A, Verloo, P, Wortmann, SB, Treacy, EP, Timson, DJ and Berry, GT.
Galactokinase deficiency: lessons from the GalNet registry
GENETICS IN MEDICINE . 23(1): 202-210. Nº de cites: 14
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Hübschmann OK, Mohr A, Friedman J, Manti F, Horvath G, Cortés-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, Garcia-Cazorla A, Opladen T, Harting I and International Working Group on Neurotransmitter Related Disorders.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
JOURNAL OF INHERITED METABOLIC DISEASE . 44(4): 1070-1082. Nº de cites: 12
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García-Recio A, Santos-Gómez A, Soto D, Julià-Palacios NA, Garcia-Cazorla A, Altafaj X and Olivella M.
GRIN database: A unified and manually curated repertoire of GRIN variants
HUMAN MUTATION . 42(1): 8-18. Nº de cites: 24
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Pijuan-Marquilles J, Rodríguez-Sanz M, Natera-de Benito D, Ortez-Gonzalez CI, Altimir A, Osuna-Lopez M, Roura-Llerda M, Ugalde M, Van de Vondel L, Reina-Castillon J, Fons-Estupina C, Benítez R, Nascimento-Osorio A, Hoenicka J and Palau F.
Translational Diagnostics An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases
JOURNAL OF MOLECULAR DIAGNOSTICS . 23(1): 71-90. Nº de cites: 6
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Tristan-Noguero A, Borràs E, Molero M, Wassenberg T, Peters T, Verbeek MM, Willemsen M, Opladen T, Jeltsch K, Pons R, Thony B, Horvath G, Yapici Z, Friedman J, Hyland K, Agosta GE, López-Laso E, Artuch-Iriberri R, Sabidó E and Garcia-Cazorla A.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity
MOVEMENT DISORDERS . 36(3): 690-703. Nº de cites: 5
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Casas-Alba D, López-Sala L, Pérez M, Marí-Vico R, Bolasell M, Martinez-Monseny T, Muchart-Lopez J, Fernández-Fernández JM, Martorell-Sampol L and Serrano M.
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 185(1): 256-260. Nº de cites: 2