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Molecular Therapy : the Journal of the American Society of Gene Therapy
|
January 22, 2026
Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy
Sunetra Sase, Julia L Hacker, Prabhat R Napit, et al.
Epilepsia
|
November 11, 2023
Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up
Heather E Olson, Sam Amin, Nadia Bahi-Buisson, et al.
Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|
July 4, 2024
Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study
Jacinta M Saldaris, Scott Demarest, Peter Jacoby, et al.
Epilepsy Research
|
April 26, 2019
Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results
Linda C Laux, E Martina Bebin, Daniel Checketts, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
September 9, 2025
Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study
Jessica Keeley, Zoe Skoda, Karen Utley, et al.
Brain and Behavior
|
November 14, 2025
Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder
Peter Jacoby, Eric D Marsh, Scott Demarest, et al.
Elife
|
February 18, 2026
Impaired excitability of fast-spiking neurons in a novel mouse model of <i>KCNC1</i> epileptic encephalopathy
Eric R Wengert, Sophie R Liebergall, Teresa Jimenez, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2021
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature
Vishnu Anand Cuddapah, Holly A Dubbs, Laura Adang, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 3, 2023
Validation of the Observer-Reported Communication Ability (ORCA) measure for individuals with Rett syndrome
Bryce B Reeve, Nicole Lucas, Dandan Chen, et al.
Journal of Child Neurology
|
August 11, 2021
Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder
Jacinta Saldaris, Judith Weisenberg, Elia Pestana-Knight, et al.
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Search research articles
Search
Showing results (101-110 of 156) with videos related to
Sort By:
Page
of 16
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
January 22, 2026
Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy
Sunetra Sase, Julia L Hacker, Prabhat R Napit, et al.
Epilepsia
|
November 11, 2023
Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up
Heather E Olson, Sam Amin, Nadia Bahi-Buisson, et al.
Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|
July 4, 2024
Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study
Jacinta M Saldaris, Scott Demarest, Peter Jacoby, et al.
Epilepsy Research
|
April 26, 2019
Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results
Linda C Laux, E Martina Bebin, Daniel Checketts, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
September 9, 2025
Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study
Jessica Keeley, Zoe Skoda, Karen Utley, et al.
Brain and Behavior
|
November 14, 2025
Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder
Peter Jacoby, Eric D Marsh, Scott Demarest, et al.
Elife
|
February 18, 2026
Impaired excitability of fast-spiking neurons in a novel mouse model of <i>KCNC1</i> epileptic encephalopathy
Eric R Wengert, Sophie R Liebergall, Teresa Jimenez, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2021
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature
Vishnu Anand Cuddapah, Holly A Dubbs, Laura Adang, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 3, 2023
Validation of the Observer-Reported Communication Ability (ORCA) measure for individuals with Rett syndrome
Bryce B Reeve, Nicole Lucas, Dandan Chen, et al.
Journal of Child Neurology
|
August 11, 2021
Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder
Jacinta Saldaris, Judith Weisenberg, Elia Pestana-Knight, et al.
Page
of 16