Berry-Kravis E - Search Results

1

Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin.

Berry-Kravis E, Chin J, Hoffmann A, Winston A, Stoner R, LaGorio L, Friedmann K, Hernandez M, Ory DS, Porter FD, O'Keefe JA. Berry-Kravis E, et al. Pediatr Neurol. 2018 Mar;80:24-34. doi: 10.1016/j.pediatrneurol.2017.12.014. Epub 2018 Jan 8. Pediatr Neurol. 2018. PMID: 29429782 Free PMC article.

2

Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence.

Lindgren V, Rosinsky B, Chin J, Berry-Kravis E. Lindgren V, et al. Am J Med Genet. 1994 Jan 1;49(1):67-73. doi: 10.1002/ajmg.1320490112. Am J Med Genet. 1994. PMID: 8172253

3

Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome.

O'Keefe JA, Espinoza Orías AA, Khan H, Hall DA, Berry-Kravis E, Wimmer MA. O'Keefe JA, et al. Gait Posture. 2014 Feb;39(2):827-30. doi: 10.1016/j.gaitpost.2013.10.017. Epub 2013 Oct 28. Gait Posture. 2014. PMID: 24252602 Clinical Trial.

4

Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome.

Berry-Kravis E. Berry-Kravis E. Pediatr Neurol. 2014 Apr;50(4):297-302. doi: 10.1016/j.pediatrneurol.2013.12.001. Epub 2013 Dec 4. Pediatr Neurol. 2014. PMID: 24518745 Review.

5

Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

O'Keefe JA, Robertson-Dick E, Dunn EJ, Li Y, Deng Y, Fiutko AN, Berry-Kravis E, Hall DA. O'Keefe JA, et al. Cerebellum. 2015 Dec;14(6):650-62. doi: 10.1007/s12311-015-0659-7. Cerebellum. 2015. PMID: 25763861

6

Erratum: Emerging topics in FXTAS.

Hall DA, Birch RC, Anheim M, Jønch AE, Pintado E, O'Keefe JA, Trollor JN, Stebbins GT, Hagerman RJ, Fahn S, Berry-Kravis E, Leehey MA. Hall DA, et al. J Neurodev Disord. 2015;7(1):13. doi: 10.1186/s11689-015-9108-7. Epub 2015 Apr 8. J Neurodev Disord. 2015. PMID: 25852777 Free PMC article.

7

Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.

O'Keefe JA, Robertson-Dick EE, Hall DA, Berry-Kravis E. O'Keefe JA, et al. Cerebellum. 2016 Aug;15(4):475-82. doi: 10.1007/s12311-015-0714-4. Cerebellum. 2016. PMID: 26298472 Free PMC article.

8

X-inactivation in the clinical phenotype of fragile X premutation carrier sisters.

Hall DA, Robertson-Dick EE, O'Keefe JA, Hadd AG, Zhou L, Berry-Kravis E. Hall DA, et al. Neurol Genet. 2016 Feb 3;2(1):e45. doi: 10.1212/NXG.0000000000000045. eCollection 2016 Feb. Neurol Genet. 2016. PMID: 27066582 Free PMC article.

9

Development of a bile acid-based newborn screen for Niemann-Pick disease type C.

Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS. Jiang X, et al. Sci Transl Med. 2016 May 4;8(337):337ra63. doi: 10.1126/scitranslmed.aaf2326. Sci Transl Med. 2016. PMID: 27147587 Free PMC article.

10

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.

Hall DA, Robertson E, Shelton AL, Losh MC, Mila M, Moreno EG, Gomez-Anson B, Martínez-Cerdeño V, Grigsby J, Lozano R, Hagerman R, Maria LS, Berry-Kravis E, O'Keefe JA. Hall DA, et al. Cerebellum. 2016 Oct;15(5):578-86. doi: 10.1007/s12311-016-0799-4. Cerebellum. 2016. PMID: 27287737 Free PMC article. Review.

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