Publicaciones
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Serrano NL, De Diego V, Cuadras-Palleja D, Martinez-Monseny T, Velázquez-Fragua R, López L, Felipe-Villalobos A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
ORPHANET JOURNAL OF RARE DISEASES . 12(1): 155-155. Nº de citas: 13
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Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco MR, Chung WK, Dubois J, Lacour JP, Martorell-Sampol L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks DG, Dupont J, González-Enseñat MA, Frieden IJ, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quéré I, Salhi A, Turner AM, Vabres P, Vicente-Villa MA, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM and Vikkula M.
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
Circulation . 136(11): 1037-1048. Nº de citas: 171
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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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Mollá B, Muñoz-Lasso DC, Riveiro F, Bolinches-Amorós A, Pallardó FV, Fernandez-Vilata A, de la Iglesia-Vaya M, Palau F and Gonzalez-Cabo P.
Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice.
FRONTIERS IN MOLECULAR NEUROSCIENCE . 10: 264-264. Nº de citas: 20
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Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento-Osorio A, Ortez-Gonzalez CI, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho Díaz JA, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C and Sevilla T.
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
SCIENTIFIC REPORTS . 7(1): 6677-6677. Nº de citas: 18
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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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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