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Publicacions

  • Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V and Kurian MA.

    The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders

    MOVEMENT DISORDERS . 37(11): 2197-2209. Nº de cites: 11

    [doi:10.1002/mds.29182]

  • Hernando-Davalillo C, Alcalá-San Martin A, Borregán M and Ortigoza-Escobar JD.

    De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder

    CLINICAL GENETICS . 102(5): 434-437. Nº de cites: 2

    [doi:10.1111/cge.14194]

  • Blumcke, I, Biesel, E, Bedenlier, S, Handel, M, Wilmshurst, J, Mehndiratta, MM, Yacubian, EM, Cendes, F, Arzimanoglou A, Beniczky, S, Wolf, P, Giavasi, C, Baxendale, S, Shisler, P and Wiebe, S.

    A structured, blended learning program towards proficiency in epileptology: the launch of the ILAE Academy Level 2 Program

    EPILEPTIC DISORDERS . 24(5): 737-750. Nº de cites: 5

    [doi:10.1684/epd.2022.1462]

  • Hinojosa J, Simó-Nebot M, Armero-Campos G, Becerra MV, Alamar AM, Candela-Cantó SA, Culebras D, Muchart-Lopez J and Berrueco R.

    Hemophilia and non-accidental head trauma in two siblings: lessons and legal implications

    CHILDS NERVOUS SYSTEM . 38(12): 2415-2423.

    [doi:10.1007/s00381-022-05713-2]

  • Martorell-Sampol L, Macaya A, Pérez-Dueñas B and Ortigoza-Escobar JD.

    Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants

    Movement Disorders Clinical Practice . 9(7): 979-982. Nº de cites: 2

    [doi:10.1002/mdc3.13528]

  • Ponce J, Benítez L, Baños-Lopez N, Goncé A, Mar Bennasar Sans, Muñoz M, Cobo-Cobo T and Palacio-Navarro A.

    Latency to delivery in physical examination-indicated cerclage in twins is similar to that in singleton pregnancies

    INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS . 159(1): 188-194. Nº de cites: 4

    [doi:10.1002/ijgo.14070]

  • Forné S, López-Sala A, Mateu-Estivill R, Adan A, Caldú X, Rifà-Ros X and Serra-Grabulosa JM.

    Improving Reading Skills Using a Computerized Phonological Training Program in Early Readers with Reading Difficulties

    INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH . 19(18): . Nº de cites: 3

    [doi:10.3390/ijerph191811526]

  • Ortigoza-Escobar JD, Fernández de Sevilla-Estrach M, Monfort L, Anton-Lopez J, Iglesias-Jimenez E, Rebollo M, Del Prado-Sanchez C, Arostegui JI, Mensa-Vilaró A, Alsina L, Rodriguez-Vigil Iturrate C, Niemeyer CM, Jou-Munoz C and Català-Temprano A.

    Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant

    JOURNAL OF NEUROIMMUNOLOGY . 369: 577917-577917. Nº de cites: 4

    [doi:10.1016/j.jneuroim.2022.577917]

  • Moreno-Espinosa AL, Hawkins-Villarreal A, Coronado-Gutierrez D, Burgos-Artizzu XP, Martínez-Portilla RJ, Peña-Ramirez T, Gallo DM, Hansson SR, Gratacós E and Palacio-Navarro A.

    Prediction of Neonatal Respiratory Morbidity Assessed by Quantitative Ultrasound Lung Texture Analysis in Twin Pregnancies

    Journal of Clinical Medicine . 11(16): .

    [doi:10.3390/jcm11164895]

  • Julià-Palacios NA, Molina-Anguita, C, Sigatullina M, Cortés-Saladelafont E, Aparicio J, Cuadras-Palleja D, Horvath, G, Fons-Estupina C, Artuch-Iriberri R and Garcia-Cazorla A.

    Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 64(7): 915-923. Nº de cites: 5

    [doi:10.1111/dmcn.15140]