Investigación

Neurogenética y Medicina Molecular

Buscador de publicaciones

Publicaciones

  • Serrano M.

    Untreatable Fits of Hyperventilation/Apnea in Pitt-Hopkins Syndrome

    Global Journal of Intellectual & Developmental Disabilities . 1(2): 555573.

    [doi:10.19080/GJIDD.2017.01.555573]

  • 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. Nº de citas: 3

    [doi:10.1109/EMBC.2017.8037836]

  • 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

    [doi:10.1016/j.nmd.2017.01.008]

  • 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

    [doi:10.1371/journal.pone.0178376]

  • 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

    [doi:10.1002/humu.23213]

  • 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

    [doi:10.1186/s13023-017-0627-z]

  • 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

    [doi:10.1093/cercor/bhw129]

  • 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

    [doi:10.1093/infdis/jix066]

  • 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

    [doi:10.1038/srep42993]

  • 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

    [doi:10.1002/humu.23145]