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American Journal of Medical Genetics. Part A
|
November 10, 2020
Phenotypic features in MECP2 duplication syndrome: Effects of age
Sarika U Peters, Cary Fu, Eric D Marsh, et al.
Frontiers in Neurology
|
July 7, 2022
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder
Sam Amin, Marie Monaghan, Angel Aledo-Serrano, et al.
Communications Biology
|
September 18, 2023
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons
Chad R Camp, Anna Vlachos, Chiara Klöckner, et al.
Molecular Genetics & Genomic Medicine
|
March 23, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohort
Xiaolan Fang, Kameryn M Butler, Fatima Abidi, et al.
Annals of the Child Neurology Society
|
March 18, 2024
Distribution of hand function by age in individuals with Rett syndrome
Jeffrey L Neul, Tim A Benke, Eric D Marsh, et al.
Trials
|
December 21, 2024
International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA
Jenny Downs, Dominique C Pichard, Walter E Kaufmann, et al.
Biorxiv : the Preprint Server for Biology
|
May 10, 2023
Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology
Anna Castano, Margaux Silvestre, Carrow I Wells, et al.
Molecular Autism
|
June 14, 2024
Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
Laura Simões de Oliveira, Heather E O'Leary, Sarfaraz Nawaz, et al.
Elife
|
July 25, 2023
Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin-dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology
Anna Castano, Margaux Silvestre, Carrow I Wells, et al.
Pediatric Neurology
|
June 1, 2019
Severity Assessment in CDKL5 Deficiency Disorder
Scott Demarest, Elia M Pestana-Knight, Heather E Olson, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 62) with videos related to
Sort By:
Page
of 7
American Journal of Medical Genetics. Part A
|
November 10, 2020
Phenotypic features in MECP2 duplication syndrome: Effects of age
Sarika U Peters, Cary Fu, Eric D Marsh, et al.
Frontiers in Neurology
|
July 7, 2022
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder
Sam Amin, Marie Monaghan, Angel Aledo-Serrano, et al.
Communications Biology
|
September 18, 2023
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons
Chad R Camp, Anna Vlachos, Chiara Klöckner, et al.
Molecular Genetics & Genomic Medicine
|
March 23, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohort
Xiaolan Fang, Kameryn M Butler, Fatima Abidi, et al.
Annals of the Child Neurology Society
|
March 18, 2024
Distribution of hand function by age in individuals with Rett syndrome
Jeffrey L Neul, Tim A Benke, Eric D Marsh, et al.
Trials
|
December 21, 2024
International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA
Jenny Downs, Dominique C Pichard, Walter E Kaufmann, et al.
Biorxiv : the Preprint Server for Biology
|
May 10, 2023
Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology
Anna Castano, Margaux Silvestre, Carrow I Wells, et al.
Molecular Autism
|
June 14, 2024
Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
Laura Simões de Oliveira, Heather E O'Leary, Sarfaraz Nawaz, et al.
Elife
|
July 25, 2023
Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin-dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology
Anna Castano, Margaux Silvestre, Carrow I Wells, et al.
Pediatric Neurology
|
June 1, 2019
Severity Assessment in CDKL5 Deficiency Disorder
Scott Demarest, Elia M Pestana-Knight, Heather E Olson, et al.
Page
of 7