Detalles de la búsqueda
1.
Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants.
Hum Mol Genet
; 33(1): 12-32, 2023 Dec 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37712894
2.
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.
Mov Disord
; 2024 May 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-38725190
3.
Lack of clinically relevant differences in safety and pharmacokinetics after second-dose administration of intranasal diazepam within 4 h for acute treatment of seizure clusters: A population analysis.
Epilepsia
; 63(7): 1714-1723, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35377464
4.
Final results from a Phase 3, long-term, open-label, repeat-dose safety study of diazepam nasal spray for seizure clusters in patients with epilepsy.
Epilepsia
; 62(10): 2485-2495, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34418086
5.
Evaluation of diazepam nasal spray in patients with epilepsy concomitantly using maintenance benzodiazepines: An interim subgroup analysis from a phase 3, long-term, open-label safety study.
Epilepsia
; 62(6): 1442-1450, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33942315
6.
Lack of observed tolerance to diazepam nasal spray (Valtoco®) after long-term rescue therapy in patients with epilepsy: Interim results from a phase 3, open-label, repeat-dose safety study.
Epilepsy Behav
; 120: 107983, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33957437
7.
Pharmacokinetics and safety of VALTOCO (NRL-1; diazepam nasal spray) in patients with epilepsy during seizure (ictal/peri-ictal) and nonseizure (interictal) conditions: A phase 1, open-label study.
Epilepsia
; 61(5): 935-943, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32338380
8.
Longitudinal course of epilepsy in Rett syndrome and related disorders.
Brain
; 140(2): 306-318, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28007990
9.
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
J Med Genet
; 51(3): 152-8, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24399845
10.
Rett syndrome severity estimation with the BioStamp nPoint using interactions between heart rate variability and body movement.
PLoS One
; 18(3): e0266351, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36857328
11.
Safety of Diazepam Nasal Spray in Pediatric Patients With Developmental Epileptic Encephalopathies: Results From a Long-term Phase 3 Safety Study.
J Child Neurol
; 38(6-7): 389-393, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37455404
12.
Systemic Proteome Phenotypes Reveal Defective Metabolic Flexibility in Mecp2 Mutants.
bioRxiv
; 2023 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37066332
13.
Growth charts for 22q11 deletion syndrome.
Am J Med Genet A
; 158A(11): 2672-81, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22887711
14.
Safety of Diazepam Nasal Spray in Children and Adolescents With Epilepsy: Results From a Long-Term Phase 3 Safety Study.
Pediatr Neurol
; 132: 50-55, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35636283
15.
Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome.
iScience
; 25(9): 104966, 2022 Sep 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-36060065
16.
Methylphenidate treatment for cognitive symptoms associated with ADHD in a pediatric epilepsy patient following resection of a left frontal cortical dysplasia.
Epilepsy Behav Rep
; 16: 100435, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33981985
17.
Consistent safety and tolerability of Valtoco® (diazepam nasal spray) in relationship to usage frequency in patients with seizure clusters: Interim results from a phase 3, long-term, open-label, repeat-dose safety study.
Epilepsia Open
; 6(3): 504-512, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34033266
18.
Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behavioural Questionnaire.
Pediatr Neurol
; 107: 48-56, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32165033
19.
Molecular Systems Biology of Neurodevelopmental Disorders, Rett Syndrome as an Archetype.
Front Integr Neurosci
; 13: 30, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31379529
20.
The course of awake breathing disturbances across the lifespan in Rett syndrome.
Brain Dev
; 40(7): 515-529, 2018 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-29657083