Publicaciones
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Vallmitjana A, Civera-Tregon A, Hoenicka J, Palau F and Benítez R.
Motion estimation of subcellular structures from fluorescence microscopy images.
2023 45TH ANNUAL INTERNATIONAL CONFERENCE OF THE IEEE ENGINEERING IN MEDICINE & BIOLOGY SOCIETY, EMBC . 2017: 4419-4422. Nº de citas: 3
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García-Sobrino T, Blanco-Arias P, Palau F, Espinós C, Ramirez L, Estela A, San Millán B, Arias M, Sobrido MJ and Pardo J.
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.
NEUROMUSCULAR DISORDERS . 27(7): 667-672. Nº de citas: 7
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Soldevilla B, Cuevas-Martín C, Ibáñez C, Santacatterina F, Alberti MA, Simó C, Casasnovas C, Márquez-Infante C, Sevilla T, Pascual SI, Sánchez-Aragó M, Espinos C, Palau F and Cuezva JM.
Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.
PLoS One . 12(6): . Nº de citas: 13
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Casanova MA, Monteagudo-Sánchez A, Rodríguez-Guerineau L, Court F, Serrano IG, Martorell-Sampol L, Zurriaga CR, Moore GE, Ishida M, Castañón M, Calderon EM, Monk D and Moreno-Hernando J.
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.
HUMAN MUTATION . 38(6): 615-620. Nº de citas: 9
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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(1): 84-84. Nº de citas: 24
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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 citas: 10
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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 citas: 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 citas: 32
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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 citas: 29
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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 citas: 19