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Sofia T Duarte

Showing results (1-10 of 11) with videos related to

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Journal of Inherited Metabolic Disease|January 14, 2011
Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmissionSofia T Duarte, Carlos Ortez, Ana Pérez, et al.
Muscle & Nerve|June 16, 2011
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptomsSofia T Duarte, Jorge Oliveira, Rośrio Santos, et al.
Cerebral Cortex (New York, N.Y. : 1991)|December 3, 2014
Adenosine A1 Receptor Suppresses Tonic GABAA Receptor Currents in Hippocampal Pyramidal Cells and in a Defined Subpopulation of InterneuronsDiogo M Rombo, Raquel B Dias, Sofia T Duarte, et al.
Neuromuscular Disorders : NMD|February 19, 2014
Atypical phenotype in two patients with LAMA2 mutationsJoana Marques, Sofia T Duarte, Sónia Costa, et al.
Molecular Genetics & Genomic Medicine|April 30, 2020
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gateAlba Sanchis-Juan, Marcia A Hasenahuer, James A Baker, et al.
Human Molecular Genetics|August 14, 2018
Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCsDuarte Pólvora-Brandão, Mariana Joaquim, Inês Godinho, 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.
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.
American Journal of Human Genetics|July 3, 2018
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with SeizuresYoko Ito, Keren J Carss, Sofia T Duarte, et al.
Human Molecular Genetics|January 10, 2020
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein traffickingRobert Behne, Julian Teinert, Miriam Wimmer, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Journal of Inherited Metabolic Disease|January 14, 2011
Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmissionSofia T Duarte, Carlos Ortez, Ana Pérez, et al.
Muscle & Nerve|June 16, 2011
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptomsSofia T Duarte, Jorge Oliveira, Rośrio Santos, et al.
Cerebral Cortex (New York, N.Y. : 1991)|December 3, 2014
Adenosine A1 Receptor Suppresses Tonic GABAA Receptor Currents in Hippocampal Pyramidal Cells and in a Defined Subpopulation of InterneuronsDiogo M Rombo, Raquel B Dias, Sofia T Duarte, et al.
Neuromuscular Disorders : NMD|February 19, 2014
Atypical phenotype in two patients with LAMA2 mutationsJoana Marques, Sofia T Duarte, Sónia Costa, et al.
Molecular Genetics & Genomic Medicine|April 30, 2020
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gateAlba Sanchis-Juan, Marcia A Hasenahuer, James A Baker, et al.
Human Molecular Genetics|August 14, 2018
Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCsDuarte Pólvora-Brandão, Mariana Joaquim, Inês Godinho, 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.
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.
American Journal of Human Genetics|July 3, 2018
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with SeizuresYoko Ito, Keren J Carss, Sofia T Duarte, et al.
Human Molecular Genetics|January 10, 2020
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein traffickingRobert Behne, Julian Teinert, Miriam Wimmer, et al.
Pageof 2