Publicacions
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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 cites: 22
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España-Serrano L, Guerra Martín-Palanco N, Montero-Pedrazuela A, Pérez-Santamarina E, Vidal R, García-Consuegra I, Valdizán EM, Pazos A, Palomo T, Jiménez-Arriero MÁ, Guadaño-Ferraz A and Hoenicka J.
The Addiction-Related Protein ANKK1 is Differentially Expressed During the Cell Cycle in Neural Precursors.
CEREBRAL CORTEX . 27(5): 2809-2819. Nº de cites: 9
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Requena-Méndez A, Goñi P, Rubio E, Pou D, Fumadó V, Lóbez S, Aldasoro E, Cabezos J, Valls ME, Treviño B, Martinez-Monseny T, Clavel A, Gascon J and Muñoz J.
The Use of Quinacrine in Nitroimidazole-resistant Giardia Duodenalis: An Old Drug for an Emerging Problem.
JOURNAL OF INFECTIOUS DISEASES . 215(6): 946-953. Nº de cites: 29
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González-Sánchez P, Pla-Martín D, Martínez-Valero P, Rueda CB, Calpena E, Del Arco A, Palau F and Satrústegui J.
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca(2+) entry-stimulated respiration.
SCIENTIFIC REPORTS . 7: 42993-42993. Nº de cites: 28
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Matalonga L, Bravo M, Serra-Peinado C, García-Pelegrí E, Ugarteburu O, Vidal-Falcó S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, García-García F, Foulquier F, Matthijs G, Mills P, Ribes A, Egea G, Briones P, Tort F and Girós M.
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation
HUMAN MUTATION . 38(2): 148-151. Nº de cites: 25
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Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons-Estupina C, Armstrong-Moron J, Barrios D, Díaz-Flores F, Tirado P, Couce ML and Gutiérrez-Solana LG.
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
JOURNAL OF HUMAN GENETICS . 62(2): 185-189. Nº de cites: 19
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Casas-Alba D, Martinez-Monseny T, Monfort L, Munoz-Almagro C, Cabrerizo M, Deyà-Martinez A and Launes-Montana C.
EXTREME HYPERFERRITINEMIA IN DIZYGOTIC TWINS WITH HUMAN PARECHOVIRUS-3 INFECTION
PEDIATRIC INFECTIOUS DISEASE JOURNAL . 35(12): 1366-1368. Nº de cites: 6
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Lucariello M, Vidal E, Vidal-Falcó S, Saez M, Roa L, Huertas D, Pineda M, Dalfó E, Dopazo J, Jurado P, Armstrong-Moron J and Esteller M.
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
HUMAN GENETICS . 135(12): 1343-1354. Nº de cites: 52
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Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavac D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell-Sampol L, Clavería MA, Català-Mora J, Dad S, Møller LB, Jesus Rodriguez Jorge, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I and Petit C.
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
EUROPEAN JOURNAL OF HUMAN GENETICS . 24(12): 1730-1738. Nº de cites: 67
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Frasquet M, Chumillas MJ, Vílchez JJ, Márquez-Infante C, Palau F, Vázquez-Costa JF, Lupo V, Espinós C and Sevilla T.
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G > A mutation
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY . 87(11): 1265-147. Nº de cites: 13