cdkl5

نتایج جستجو برای: cdkl5

تعداد نتایج: 205 فیلتر نتایج به سال:

Ataluren for drug‐resistant epilepsy in nonsense variant‐mediated Dravet syndrome and CDKL5 deficiency disorder

Journal: :Annals of Clinical and Translational Neurology 2021

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Neuron-Type Specific Loss of CDKL5 Leads to Alterations in mTOR Signaling and Synaptic Markers

Journal: :Molecular Neurobiology 2018

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Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome

Journal: :Human Molecular Genetics 2019

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CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells

Journal: :Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms 2012

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Deep Learning of spontaneous arousal fluctuation detects early impairments in Rett Syndrome and CDKL5 disorder

Journal: :IBRO Reports 2019

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Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder

Journal: :Human Molecular Genetics 2019

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Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity

Journal: :RNA Biology 2019

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Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations

Journal: :Journal of Human Genetics 2010

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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

Journal: :Journal of Medical Genetics 2006

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The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complex

Journal: :Human Molecular Genetics 2017

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