145 related articles for article (PubMed ID: 38450288)
1. An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective.
Rogers-Hammond R; Howell C
Ther Adv Rare Dis; 2024; 5():26330040241234932. PubMed ID: 38450288
[TBL] [Abstract][Full Text] [Related]
2. Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses.
Ajayi OJ; Smith EJ; Viangteeravat T; Huang EY; Nagisetty NSVR; Urraca N; Lusk L; Finucane B; Arkilo D; Young J; Jeste S; Thibert R; ; Reiter LT
JMIR Res Protoc; 2017 Oct; 6(10):e194. PubMed ID: 29046268
[TBL] [Abstract][Full Text] [Related]
3. Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.
Potter SN; Reynolds E; Okoniewski KC; Edwards A; Gable J; Hill C; Bakalov V; Zentz S; Whiting C; Cheves E; Garbarini K; Jalazo E; Howell C; Moore A; Wheeler A
Ther Adv Rare Dis; 2024; 5():26330040241254122. PubMed ID: 38808315
[TBL] [Abstract][Full Text] [Related]
4. Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome.
DiStefano C; Gulsrud A; Huberty S; Kasari C; Cook E; Reiter LT; Thibert R; Jeste SS
J Neurodev Disord; 2016; 8():19. PubMed ID: 27158270
[TBL] [Abstract][Full Text] [Related]
5. A survey of seizures and current treatments in 15q duplication syndrome.
Conant KD; Finucane B; Cleary N; Martin A; Muss C; Delany M; Murphy EK; Rabe O; Luchsinger K; Spence SJ; Schanen C; Devinsky O; Cook EH; LaSalle J; Reiter LT; Thibert RL
Epilepsia; 2014 Mar; 55(3):396-402. PubMed ID: 24502430
[TBL] [Abstract][Full Text] [Related]
6. Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell-Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of Autism.
Fink JJ; Schreiner JD; Bloom JE; James J; Baker DS; Robinson TM; Lieberman R; Loew LM; Chamberlain SJ; Levine ES
Biol Psychiatry; 2021 Dec; 90(11):756-765. PubMed ID: 34538422
[TBL] [Abstract][Full Text] [Related]
7. Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome.
Saravanapandian V; Nadkarni D; Hsu SH; Hussain SA; Maski K; Golshani P; Colwell CS; Balasubramanian S; Dixon A; Geschwind DH; Jeste SS
Mol Autism; 2021 Aug; 12(1):54. PubMed ID: 34344470
[TBL] [Abstract][Full Text] [Related]
8. Properties of beta oscillations in Dup15q syndrome.
Saravanapandian V; Frohlich J; Hipp JF; Hyde C; Scheffler AW; Golshani P; Cook EH; Reiter LT; Senturk D; Jeste SS
J Neurodev Disord; 2020 Aug; 12(1):22. PubMed ID: 32791992
[TBL] [Abstract][Full Text] [Related]
9. Gastrointestinal problems in 15q duplication syndrome.
Shaaya EA; Pollack SF; Boronat S; Davis-Cooper S; Zella GC; Thibert RL
Eur J Med Genet; 2015 Mar; 58(3):191-3. PubMed ID: 25573720
[TBL] [Abstract][Full Text] [Related]
10. Dysfunctional sodium channel kinetics as a novel epilepsy mechanism in chromosome 15q11-q13 duplication syndrome.
Elamin M; Lemtiri-Chlieh F; Robinson TM; Levine ES
Epilepsia; 2023 Sep; 64(9):2515-2527. PubMed ID: 37329181
[TBL] [Abstract][Full Text] [Related]
11. Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples.
Scoles HA; Urraca N; Chadwick SW; Reiter LT; Lasalle JM
Mol Autism; 2011 Dec; 2(1):19. PubMed ID: 22152151
[TBL] [Abstract][Full Text] [Related]
12. The future of Cochrane Neonatal.
Soll RF; Ovelman C; McGuire W
Early Hum Dev; 2020 Nov; 150():105191. PubMed ID: 33036834
[TBL] [Abstract][Full Text] [Related]
13. A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome.
Frohlich J; Senturk D; Saravanapandian V; Golshani P; Reiter LT; Sankar R; Thibert RL; DiStefano C; Huberty S; Cook EH; Jeste SS
PLoS One; 2016; 11(12):e0167179. PubMed ID: 27977700
[TBL] [Abstract][Full Text] [Related]
14. Efficacy, safety, and tolerability of soticlestat as adjunctive therapy for the treatment of seizures in patients with Dup15q syndrome or CDKL5 deficiency disorder in an open-label signal-finding phase II study (ARCADE).
Demarest S; Jeste S; Agarwal N; Arkilo D; Asgharnejad M; Hsiao S; Thibert R
Epilepsy Behav; 2023 May; 142():109173. PubMed ID: 37011526
[TBL] [Abstract][Full Text] [Related]
15. Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials.
DiStefano C; Wilson RB; Hyde C; Cook EH; Thibert RL; Reiter LT; Vogel-Farley V; Hipp J; Jeste S
Am J Med Genet A; 2020 Jan; 182(1):71-84. PubMed ID: 31654560
[TBL] [Abstract][Full Text] [Related]
16. Mechanisms underlying the EEG biomarker in Dup15q syndrome.
Frohlich J; Reiter LT; Saravanapandian V; DiStefano C; Huberty S; Hyde C; Chamberlain S; Bearden CE; Golshani P; Irimia A; Olsen RW; Hipp JF; Jeste SS
Mol Autism; 2019; 10():29. PubMed ID: 31312421
[TBL] [Abstract][Full Text] [Related]
17. The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons.
Elamin M; Dumarchey A; Stoddard C; Robinson TM; Cowie C; Gorka D; Chamberlain SJ; Levine ES
Stem Cell Reports; 2023 Apr; 18(4):884-898. PubMed ID: 36898382
[TBL] [Abstract][Full Text] [Related]
18. Parental-reported pain insensitivity in Dup15q.
Luchsinger K; Lau H; Hedlund JL; Friedman D; Krushel K; Devinsky O
Epilepsy Behav; 2016 Feb; 55():124-7. PubMed ID: 26773682
[TBL] [Abstract][Full Text] [Related]
19. Measurement of Sleep Behaviors in Chromosome 15q11.2-13.1 Duplication (Dup15q Syndrome).
Barstein J; Jeste S; Saravanapandian V; Hyde C; Distefano C
Am J Intellect Dev Disabil; 2021 Nov; 126(6):505-510. PubMed ID: 34700346
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]