Publications (50) Publications de IGNACIO MALAGA DIEGUEZ

2023

  1. A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy

    Epilepsia, Vol. 64, Núm. 9, pp. e184-e189

  2. Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D)

    Scientific Reports, Vol. 13, Núm. 1

  3. Impoverished Conceptions of Gene Causation and Therapy in Developmental Neurology

    Pediatric Neurology, Vol. 148, pp. 198-205

  4. Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D)

    Scientific Reports, Vol. 13, Núm. 1

  5. Strategic discussion on funding and access to therapies targeting rare diseases in Spain: an expert consensus paper

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

  6. Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

    Neurology and Therapy, Vol. 12, Núm. 1, pp. 89-105

2022

  1. Prevalencia y distribución geográfica del síndrome de Wolf-Hirschhorn en España

    Revista espanola de salud publica, Vol. 96

  2. Therapeutic Decision-Making Under Uncertainty in the Management of Spinal Muscular Atrophy: Results From DECISIONS-SMA Study

    Neurology and Therapy, Vol. 11, Núm. 3, pp. 1209-1219

  3. Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol

    PLoS ONE, Vol. 17, Núm. 2 February

2021

  1. Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study

    Neuropediatrics, Vol. 52, Núm. 3, pp. 192-200

  2. Paradigmatic de novo grin1 variants recapitulate pathophysiological mechanisms underlying grin1‐related disorder clinical spectrum

    International Journal of Molecular Sciences, Vol. 22, Núm. 23

2020

  1. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

    The Lancet Neurology, Vol. 19, Núm. 3, pp. 234-246

  2. International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

    American Journal of Medical Genetics, Part A

  3. Symptomatic epilepsy with Panayiotopoulos-like onset: The importance of neuroimaging

    Revista de Neurologia, Vol. 70, Núm. 4, pp. 134-138

2019

  1. Assessment of comorbidity and social anxiety in adolescents with attention deficit hyperactivity disorder: the SELFIE study

    Anales de Pediatria, Vol. 90, Núm. 6, pp. 349-361

  2. New anti-epileptic drugs in Paediatrics

    Anales de Pediatria, Vol. 91, Núm. 6, pp. 415.e1-415.e10

  3. Prevalence of autism spectrum disorders in USA, Europe and Spain: Coincidences and discrepancies.

    Medicina (Argentina), Vol. 79, Núm. 1, pp. 4-9

2018

  1. Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

    The Lancet Neurology, Vol. 17, Núm. 9, pp. 760-772

  2. Identifying the educational needs of physicians in pediatric epilepsy in order to improve care: results from a needs assessment in Germany, Spain, and the United States

    Epileptic Disorders, Vol. 20, Núm. 4, pp. 239-256

2017

  1. La exploración neurológica en la edad infantil

    Pediatria Integral