Publicacións (60) Publicacións de María del Carmen Gómez Lado

2023

  1. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

2020

  1. Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome

    Revista de Neurologia, Vol. 71, Núm. 6, pp. 221-224

2019

  1. Mutación de novo en heterocigosis en el gen MBD5 asociada a heterotopía en banda bilateral y polimicrogiria

    Revista de neurologia, Vol. 69, Núm. 12, pp. 492-496

2018

  1. Functional hemispherectomy: Long-term follow-up in a series of five patients

    Revista de Neurologia, Vol. 66, Núm. 5, pp. 147-153

  2. Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case

    Revista de Neurologia, Vol. 67, Núm. 9, pp. 339-342

  3. Tratamiento de la deficiencia en colina cinasa beta con citicolina

    Revista de Neurologia

2017

  1. Copy number variation analysis of patients with intellectual disability from North-West Spain

    Gene, Vol. 626, pp. 189-199

2016

  1. Análisis retrospectivo sobre el efecto del estimulador vagal implantado en pacientes pediátricos con epilepsia refractaria

    Revista de Neurologia, Vol. 63, Núm. 1, pp. 11-18

2015

  1. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3113-3120

2014

  1. Malformaciones del sistema nervioso central

    Tratado de pediatría (Editorial Médica Panamericana), pp. 2141-2149

2013

  1. A Xq21.31 duplication without features of Prader-Willi syndrome

    Endocrine

  2. Enfermedad de alpers juvenil

    Revista de Neurologia

  3. Intrathecal baclofen for progressive neurological disease in children

    European Journal of Paediatric Neurology

  4. Microdeleción 16p11.2 asociada a convulsiones benignas de la primera infancia

    Revista de Neurologia

  5. Microdeleción 2q23.1 y hallazgos sindrómicos

    Revista de Neurologia

2012

  1. Methylenetetrahydrofolate Reductase (MTHFR) gene polymorphism and migraine

    Journal of Child Neurology

2011

  1. Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 3, Núm. 4, pp. 208-211

  2. Growth in children and adolescents with mitochondrial diseases

    Journal of Pediatric Neurology, Vol. 9, Núm. 4, pp. 435-439

  3. Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant

    Journal of Child Neurology, Vol. 26, Núm. 6, pp. 734-737

  4. The influence of valproic acid and carbamazepine treatment on serum biotin and zinc levels and on biotinidase activity

    Journal of Child Neurology