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Judith Armstrong

Showing results (61-70 of 86) with videos related to

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Frontiers in Genetics|August 19, 2015
Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutationsSara Brito, Kyle Thompson, Jaume Campistol, et al.
Frontiers in Genetics|April 9, 2015
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutationsSara Brito, Kyle Thompson, Jaume Campistol, et al.
Biological Psychiatry|July 24, 2017
Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary SupplementDavid Soto, Mireia Olivella, Cristina Grau, et al.
Journal of Inherited Metabolic Disease|July 6, 2018
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experienceMarta Batllori, Marta Molero-Luis, Aida Ormazabal, et al.
Molecular Therapy. Nucleic Acids|January 17, 2022
Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndromeEdilene Siqueira, Aida Obiols-Guardia, Olga C Jorge-Torres, et al.
Journal of Central Nervous System Disease|August 5, 2014
Vanishing white matter disease in a spanish populationEulàlia Turón-Viñas, Mercè Pineda, Victòria Cusí, et al.
Neurobiology of Disease|August 18, 2020
Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signallingCatarina Miranda-Lourenço, Sofia T Duarte, Cátia Palminha, et al.
Scientific Reports|June 26, 2019
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid MetabolismAlba-Aina Castells, Daniela Gueraldi, Rafel Balada, et al.
Biotechnology Journal|July 1, 2015
Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cellsTiago G Fernandes, Sofia T Duarte, Mehrnaz Ghazvini, et al.
Orphanet Journal of Rare Diseases|May 22, 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCANicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, et al.
Pageof 9

Showing results (61-70 of 86) with videos related to

Sort By:
Pageof 9
Frontiers in Genetics|August 19, 2015
Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutationsSara Brito, Kyle Thompson, Jaume Campistol, et al.
Frontiers in Genetics|April 9, 2015
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutationsSara Brito, Kyle Thompson, Jaume Campistol, et al.
Biological Psychiatry|July 24, 2017
Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary SupplementDavid Soto, Mireia Olivella, Cristina Grau, et al.
Journal of Inherited Metabolic Disease|July 6, 2018
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experienceMarta Batllori, Marta Molero-Luis, Aida Ormazabal, et al.
Molecular Therapy. Nucleic Acids|January 17, 2022
Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndromeEdilene Siqueira, Aida Obiols-Guardia, Olga C Jorge-Torres, et al.
Journal of Central Nervous System Disease|August 5, 2014
Vanishing white matter disease in a spanish populationEulàlia Turón-Viñas, Mercè Pineda, Victòria Cusí, et al.
Neurobiology of Disease|August 18, 2020
Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signallingCatarina Miranda-Lourenço, Sofia T Duarte, Cátia Palminha, et al.
Scientific Reports|June 26, 2019
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid MetabolismAlba-Aina Castells, Daniela Gueraldi, Rafel Balada, et al.
Biotechnology Journal|July 1, 2015
Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cellsTiago G Fernandes, Sofia T Duarte, Mehrnaz Ghazvini, et al.
Orphanet Journal of Rare Diseases|May 22, 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCANicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, et al.
Pageof 9