Abstract

The RDCRC is fully committed to employing the data sharing plan promulgated during the current funding period by the Steering Committee of the RDCRN supporting the transfer of data into an ORD-governed repository within five years of data accrual or publication of the primary study outcomes (see Appendix). We see this commitment as integral to engaging the larger research community in expanding knowledge on these disorders and enhancing the development of effective treatment strategies.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
5U54HD061222-09
Application #
8381946
Study Section
Special Emphasis Panel (ZRG1-HOP-Y)
Project Start
Project End
Budget Start
2012-08-01
Budget End
2013-07-31
Support Year
9
Fiscal Year
2012
Total Cost
$173,154
Indirect Cost
$11,305

  Institution

Name
University of Alabama Birmingham
Department
Type
DUNS #
063690705
City
Birmingham
State
AL
Country
United States
Zip Code
35294

  Publications

Tarquinio, Daniel C; Hou, Wei; Neul, Jeffrey L et al. (2018) The course of awake breathing disturbances across the lifespan in Rett syndrome. Brain Dev 40:515-529
Tan, Wen-Hann; Bird, Lynne M; Sadhwani, Anjali et al. (2018) A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A 176:1099-1107
Sadhwani, Anjali; Sanjana, Neville E; Willen, Jennifer M et al. (2018) Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform. Am J Med Genet A 176:1641-1647
Gold, June-Anne; Mahmoud, Ranim; Cassidy, Suzanne B et al. (2018) Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. Am J Med Genet A 176:1161-1165
Killian, John T; Lane, Jane B; Lee, Hye-Seung et al. (2017) Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. Pediatr Neurol 70:20-25
Lane, Jane B; Salter, Amber R; Jones, Nancy E et al. (2017) Assessment of Caregiver Inventory for Rett Syndrome. J Autism Dev Disord 47:1102-1112
Sajan, Samin A; Jhangiani, Shalini N; Muzny, Donna M et al. (2017) Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med 19:13-19
Dy, Marisela E; Waugh, Jeff L; Sharma, Nutan et al. (2017) Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol 75:91-95
Hector, Ralph D; Kalscheuer, Vera M; Hennig, Friederike et al. (2017) CDKL5 variants: Improving our understanding of a rare neurologic disorder. Neurol Genet 3:e200
Tarquinio, Daniel C; Hou, Wei; Berg, Anne et al. (2017) Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain 140:306-318

Showing the most recent 10 out of 74 publications