Downs J - Search Results

1

CDKL5 variants: Improving our understanding of a rare neurologic disorder.

Hector RD, Kalscheuer VM, Hennig F, Leonard H, Downs J, Clarke A, Benke TA, Armstrong J, Pineda M, Bailey MES, Cobb SR. Hector RD, et al. Among authors: downs j. Neurol Genet. 2017 Dec 15;3(6):e200. doi: 10.1212/NXG.0000000000000200. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264392 Free PMC article.

2

Gross motor profile in rett syndrome as determined by video analysis.

Downs JA, Bebbington A, Jacoby P, Msall ME, McIlroy O, Fyfe S, Bahi-Buisson N, Kaufmann WE, Leonard H. Downs JA, et al. Neuropediatrics. 2008 Aug;39(4):205-10. doi: 10.1055/s-0028-1104575. Epub 2009 Jan 22. Neuropediatrics. 2008. PMID: 19165708 Free PMC article.

3

Impact of scoliosis surgery on activities of daily living in females with Rett syndrome.

Downs J, Young D, de Klerk N, Bebbington A, Baikie G, Leonard H. Downs J, et al. J Pediatr Orthop. 2009 Jun;29(4):369-74. doi: 10.1097/BPO.0b013e3181a53b41. J Pediatr Orthop. 2009. PMID: 19461379

4

Parental experiences of scoliosis management in Rett syndrome.

Ager S, Downs J, Fyfe S, Leonard H. Ager S, et al. Among authors: downs j. Disabil Rehabil. 2009;31(23):1917-24. doi: 10.1080/09638280902846392. Disabil Rehabil. 2009. PMID: 19479541

5

Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence.

Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, van Bosse H, Bebbington A, Larsson EL, Smith BG, Baikie G, Fyfe S, Leonard H. Downs J, et al. Spine (Phila Pa 1976). 2009 Aug 1;34(17):E607-17. doi: 10.1097/BRS.0b013e3181a95ca4. Spine (Phila Pa 1976). 2009. PMID: 19644320

6

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database.

Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, Leonard H. Carter P, et al. Among authors: downs j. Mov Disord. 2010 Feb 15;25(3):282-8. doi: 10.1002/mds.22851. Mov Disord. 2010. PMID: 19908321

7

Level of purposeful hand function as a marker of clinical severity in Rett syndrome.

Downs J, Bebbington A, Jacoby P, Williams AM, Ghosh S, Kaufmann WE, Leonard H. Downs J, et al. Dev Med Child Neurol. 2010 Sep;52(9):817-23. doi: 10.1111/j.1469-8749.2010.03636.x. Epub 2010 Mar 19. Dev Med Child Neurol. 2010. PMID: 20345957 Free PMC article.

8

Linking MECP2 and pain sensitivity: the example of Rett syndrome.

Downs J, Géranton SM, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, Leonard H. Downs J, et al. Am J Med Genet A. 2010 May;152A(5):1197-205. doi: 10.1002/ajmg.a.33314. Am J Med Genet A. 2010. PMID: 20425824 Free PMC article.

9

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome.

Fehr S, Downs J, Bebbington A, Leonard H. Fehr S, et al. Among authors: downs j. Am J Med Genet A. 2010 Oct;152A(10):2535-42. doi: 10.1002/ajmg.a.33640. Am J Med Genet A. 2010. PMID: 20815036 Free PMC article.

10

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome.

Fehr S, Bebbington A, Ellaway C, Rowe P, Leonard H, Downs J. Fehr S, et al. Among authors: downs j. J Child Neurol. 2011 Aug;26(8):980-7. doi: 10.1177/0883073811401396. Epub 2011 May 4. J Child Neurol. 2011. PMID: 21543746

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