Ana M. De Aragon

Madrid, MD 28041, Spain

Last Updated: 09/26/2026

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Found 11 publications

Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

Journal: Journal of human genetics

Published: May 26, 2023

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

Journal: Journal of human genetics

Published: December 09, 2022

Failure of deactivation in bipolar disorder during performance of an fMRI adapted version of the Stroop task.

Failure of deactivation in bipolar disorder during performance of an fMRI adapted version of the Stroop task.

Journal: Journal of affective disorders

Published: August 01, 2022

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.

Journal: Human mutation

Published: February 21, 2022

Prevalence and Clinical Manifestations of Congenital Cytomegalovirus Infection in a Screening Program in Madrid (PICCSA Study).

Prevalence and Clinical Manifestations of Congenital Cytomegalovirus Infection in a Screening Program in Madrid (PICCSA Study).

Journal: The Pediatric infectious disease journal

Published: August 11, 2020

Effects of perinatal HIV-infection on the cortical thickness and subcortical gray matter volumes in young adulthood.

Effects of perinatal HIV-infection on the cortical thickness and subcortical gray matter volumes in young adulthood.

Journal: Medicine

Published: July 28, 2020

Apert syndrome: Cranial procedures and brain malformations in a series of patients.

Apert syndrome: Cranial procedures and brain malformations in a series of patients.

Journal: Surgical neurology international

Published: July 07, 2020

Steroids for familial acute necrotizing encephalopathy: A future investment?

Steroids for familial acute necrotizing encephalopathy: A future investment?

Journal: Clinical neurology and neurosurgery

Published: November 05, 2017

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.

Journal: Neurogenetics

Published: September 17, 2015

LAMA2-related congenital muscular dystrophy complicated by West syndrome.

LAMA2-related congenital muscular dystrophy complicated by West syndrome.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 07, 2014

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.

Journal: Orphanet journal of rare diseases

Published: August 14, 2014

Showing 1-11 of 11

Last Updated: 09/26/2026