Effective treatment of Angelman syndrome (AS), Rett syndrome (RTT), and Prader-Willi syndrome (PWS) requires understanding their natural history through longitudinal assessments. We believe more strongly than in the initial proposal that near-term potential for therapy in these disorders is promising. Thus, understanding their common clinical issues disorders (such as nutrition, seizures, sleep and behavior) and the most effective interventions for them are highly relevant.
| 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
