Downs J - Search Results

1

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder.

Ziniel SI, Mackie A, Saldaris J, Leonard H, Jacoby P, Marsh ED, Suter B, Pestana-Knight E, Olson HE, Price D, Weisenberg J, Rajaraman R, VanderVeen G, Benke TA, Downs J, Demarest S. Ziniel SI, et al. Among authors: downs j. Epilepsy Res. 2023 Nov;197:107231. doi: 10.1016/j.eplepsyres.2023.107231. Epub 2023 Sep 20. Epilepsy Res. 2023. PMID: 37751639 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

Valproate and risk of fracture in Rett syndrome.

Leonard H, Downs J, Jian L, Bebbington A, Jacoby P, Nagarajan L, Ravine D, Woodhead H. Leonard H, et al. Among authors: downs j. Arch Dis Child. 2010 Jun;95(6):444-8. doi: 10.1136/adc.2008.148932. Arch Dis Child. 2010. PMID: 20501539

10

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.

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