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Journal of Child Neurology
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December 24, 2014
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition
Adeline Vanderver, Morgan Prust, Nadja Kadom, et al.
Epilepsia
|
June 18, 2022
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress
Juliet K Knowles, Ingo Helbig, Cameron S Metcalf, 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.
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.
Nature Communications
|
November 12, 2024
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases
Olivia Kim-McManus, Joseph G Gleeson, Laurence Mignon, et al.
Epilepsia
|
August 27, 2024
Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder
Jacinta M Saldaris, Peter Jacoby, Jenny Downs, et al.
Epilepsy Research
|
September 26, 2023
The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder
Sonja I Ziniel, Alexandra Mackie, Jacinta Saldaris, et al.
Orphanet Journal of Rare Diseases
|
May 22, 2026
Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies
Nicole Nolen, Annemieke Aartsma-Rus, Christine Caneva, 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.
Pediatric Neurology
|
July 21, 2020
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics
Emily de Los Reyes, Lenora Lehwald, Erika F Augustine, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 61) with videos related to
Sort By:
Page
of 7
Journal of Child Neurology
|
December 24, 2014
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition
Adeline Vanderver, Morgan Prust, Nadja Kadom, et al.
Epilepsia
|
June 18, 2022
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress
Juliet K Knowles, Ingo Helbig, Cameron S Metcalf, 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.
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.
Nature Communications
|
November 12, 2024
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases
Olivia Kim-McManus, Joseph G Gleeson, Laurence Mignon, et al.
Epilepsia
|
August 27, 2024
Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder
Jacinta M Saldaris, Peter Jacoby, Jenny Downs, et al.
Epilepsy Research
|
September 26, 2023
The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder
Sonja I Ziniel, Alexandra Mackie, Jacinta Saldaris, et al.
Orphanet Journal of Rare Diseases
|
May 22, 2026
Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies
Nicole Nolen, Annemieke Aartsma-Rus, Christine Caneva, 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.
Pediatric Neurology
|
July 21, 2020
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics
Emily de Los Reyes, Lenora Lehwald, Erika F Augustine, et al.
Page
of 7