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List of works by Judith Armstrong

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

scientific article

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

scientific article published on 17 June 2019

Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

scientific article published on 14 January 2020

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

scientific article published on 28 July 2015

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

scientific article published on 12 August 2019

Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects

scientific article published on 11 January 2023

IQSEC2 disorder: a new disease entity or a Rett spectrum continuum?

scientific article published on 28 December 2020

L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy

scientific article published on 18 June 2019

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

scientific article

Molecular characterization of Spanish patients with MECP2 duplication syndrome

scientific article published on 23 February 2020

Molecular diagnosis of coenzyme Q10 deficiency.

scientific article published on 04 July 2015

New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients

scientific article published on 30 September 2019

The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

scientific article published on 20 April 2021

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