Publications
-
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. Number of citations: 15
-
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. Number of citations: 23
-
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: 6677-6677. Number of citations: 25
-
Serrano M.
Untreatable Fits of Hyperventilation/Apnea in Pitt-Hopkins Syndrome
Global Journal of Intellectual & Developmental Disabilities . 1(2): 555573.
-
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. Number of citations: 4
-
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.R226de1) in axonal Charcot-Marie-Tooth disease
NEUROMUSCULAR DISORDERS . 27(7): 667-672. Number of citations: 9
-
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): . Number of citations: 17
-
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. Number of citations: 11
-
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. Number of citations: 27
-
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. Number of citations: 10
