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 #
9U54HD061222-06
Application #
7877164
Study Section
Special Emphasis Panel (ZRG1-HOP-Y (50))
Project Start
2009-08-01
Project End
2014-07-31
Budget Start
2009-08-01
Budget End
2010-07-31
Support Year
6
Fiscal Year
2009
Total Cost
$172,916
Indirect Cost
Name
University of Alabama Birmingham
Department
Type
DUNS #
063690705
City
Birmingham
State
AL
Country
United States
Zip Code
35294
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

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