J
Judith Armstrong
Researcher at Carlos III Health Institute
Publications - 6
Citations - 86
Judith Armstrong is an academic researcher from Carlos III Health Institute. The author has contributed to research in topics: Rett syndrome & MECP2. The author has an hindex of 3, co-authored 6 publications receiving 44 citations. Previous affiliations of Judith Armstrong include Hospital Sant Joan de Déu Barcelona.
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L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy
David Soto,Mireia Olivella,Cristina Grau,Judith Armstrong,Clara Alcon,Xavier Gasull,Ana Santos-Gómez,Sílvia Locubiche,Macarena Gómez de Salazar,Roberto García-Díaz,Esther Gratacòs-Batlle,David Ramos-Vicente,Emeline Chu-Van,Benoit Colsch,Víctor Fernández-Dueñas,Francisco Ciruela,Àlex Bayés,Carlos Sindreu,Anna López-Sala,Angels García-Cazorla,Xavier Altafaj +20 more
TL;DR: L-serine supplementation might ameliorate GRIN2B-related severe encephalopathy and other neurological conditions caused by glutamatergic signaling deficiency, as well as correct NMDAR deficiency and neurodevelopmental defects in a pediatric patient.
Journal ArticleDOI
Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges
Silvia Vidal,Clara Xiol,Ainhoa Pascual-Alonso,Maria del Mar O’Callaghan,Mercè Pineda,Judith Armstrong,Judith Armstrong +6 more
TL;DR: The current molecular genetic studies, which investigate the genetic causes of RTT or Rett-like phenotypes which overlap with other genetic disorders and document the swift evolution of the techniques and methodologies employed are reviewed.
Journal ArticleDOI
Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
Alfonso Oyarzabal,Clara Xiol,Alba-Aina Castells,Cristina Grau,Mar O'Callaghan,Guerau Fernandez,Soledad Alcántara,Mercè Pineda,Judith Armstrong,Xavier Altafaj,Angels García-Cazorla +10 more
TL;DR: The identification of the molecular changes along with the Rett syndrome prodromic stages strongly endorses the importance of time frame when addressing this disease, supporting the need for a neurotransmission-targeted early therapeutic intervention.
Journal ArticleDOI
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.
Delia Yubero,Daniel Natera-de Benito,Jordi Pijuan,Judith Armstrong,Loreto Martorell,Guerau Fernandez,Joan Maynou,Cristina Jou,Monica Roldan,Carlos Ortez,Carlos Ortez,Andrés Nascimento,Janet Hoenicka,Francesc Palau +13 more
TL;DR: In this article, two additional biological omics approaches are incorporated into the molecular diagnostic process of neuromuscular diseases. But, they cannot be used to diagnose the causative genetic variant and variants of uncertain significance.
Journal ArticleDOI
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
Silvia Vidal,Ainhoa Pascual-Alonso,Marc Rabaza‐Gairí,Edgar Gerotina,Nuria Brandi,Paola Pacheco,Clara Xiol,Mercè Pineda,Judith Armstrong,Judith Armstrong +9 more
TL;DR: Rett syndrome is seen almost always in girls, but it may be seen in boys on rare occasions, and atypical forms of RTT can be caused by mutations of the CDKL5 and FOXG1 genes.