135 results on '"Benke, Timothy A."'
Search Results
2. Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)
3. Trofinetide for the treatment of Rett syndrome: Long-term safety and efficacy results of the 32-month, open-label LILAC-2 study
4. Trofinetide for the treatment of Rett syndrome: Results from the open-label extension LILAC study
5. Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome
6. Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study
7. Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
8. Comparison of evoked potentials across four related developmental encephalopathies
9. Clinical and functional consequences of GRIA variants in patients with neurological diseases
10. Automated syndrome diagnosis by three-dimensional facial imaging.
11. Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies
12. The CaV1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca2+ channel-dependent LTP at hippocampal synapses in a mouse model of Timothy Syndrome
13. Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome
14. A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials
15. Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome
16. Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
17. Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders
18. Trofinetide for the Treatment of Girls Aged Two to Four Years with Rett Syndrome: Final Results from the Open-label DAFFODIL Study (S37.003)
19. Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
20. Mecp2 Variants in Males: More Common than Previously Appreciated
21. Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.
22. Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome
23. CDKL5 deficiency disorder and other infantile‐onset genetic epilepsies.
24. A plain language summary of results from the LAVENDER study: trofinetide treatment for Rett syndrome
25. A review of the Rett Syndrome Behaviour Questionnaire and its utilization in the assessment of symptoms associated with Rett syndrome
26. Expression of hyperpolarization-activated current (Ih) in zonally-defined vestibular calyx terminals of the crista
27. Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first‐line therapies
28. Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)
29. Trofinetide for the treatment of Rett syndrome: an open-label study in girls 2 to 4 years of age (P13-9.005)
30. Treatment with trofinetide shows benefit compared to placebo for the ability to communicate in individuals with Rett syndrome: a secondary analysis of the LAVENDER study (P13-9.006)
31. Top Caregiver Concerns in Rett syndrome and related disorders: data from the US Natural History Study
32. P105: QTc Prolongation in Rett syndrome: Correlation with genotype
33. Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
34. Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder
35. Ganaxolone Significantly Reduces Major Motor Seizures Associated with CDKL5 Deficiency Disorder: A Randomized, Double-blind, Placebo-Controlled Phase 3 Study (S13.009)
36. Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort
37. Additional file 1 of Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
38. Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure
39. Analysis of X-inactivation status in a Rett syndrome natural history study cohort
40. Multisite Study of Evoked Potentials in Rett Syndrome
41. Multisystem comorbidities in classic Rett syndrome: a scoping review
42. Consensus guidelines on managing Rett syndrome across the lifespan
43. Trofinetide: A Novel Approach to Rett Syndrome (767)
44. Establishing Clinical Trial Readiness of the Rett Syndrome Hand Function Measure (P1.6-034)
45. Characterizing the phenotypic effect of Xq28 duplication size inMECP2duplication syndrome
46. eP373 - Analysis of X-inactivation status in a Rett syndrome natural history study cohort
47. The array of clinical phenotypes of males with mutations in Methyl‐CpG binding protein 2
48. AMPA receptor-mediated rapid EPSCs in vestibular calyx afferents
49. Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
50. The array of clinical phenotypes of males with mutations in Methyl‐CpG binding protein 2.
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