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Periodical

P.045 Trofinetide for the treatment of Rett syndrome: long-term safety and efficacy results from the open-label LILAC and LILAC-2 studies

Autor: Percy, AK, Neul, JL, Benke, TA, Berry-Kravis, EM, Glaze, DG, Marsh, ED, Lamontagne, A, An, D, Bishop, KM, Youakim, JM

Publikováno v: The Canadian Journal of Neurological Sciences; June 2024, Vol. 51 Issue: Supplement 1 pS27-S28, 2p

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Caretaker Quality of Life in Rett-Syndrome: Disorder Features and Psychological Predictors

Autor: Jr, KJT, Lane, JB, Lee, H-S, Pelham, JH, Skinner, SA, Kaufmann, WE, Glaze, DG, Neul, JL, Percy, AK

Publikováno v: Jr, KJT; Lane, JB; Lee, H-S; Pelham, JH; Skinner, SA; Kaufmann, WE; et al.(2016). Caretaker Quality of Life in Rett-Syndrome: Disorder Features and Psychological Predictors. PEDIATRIC NEUROLOGY, 58, 67-74. doi: 10.1016/j.pediatrneurol.2015.12.021. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/4h98z6qs

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::3cdb57b5208fa16fa7d3cf44d0ca4355
http://www.escholarship.org/uc/item/4h98z6qs

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The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders

Autor: Tarquinio, DC, Hou, W, Neul, JL, Kaufmann, WE, Glaze, DG, Motil, KJ, Skinner, SA, Lee, HS, Percy, AK

Publikováno v: Pediatric Neurology, vol 53, iss 5
Tarquinio, DC; Hou, W; Neul, JL; Kaufmann, WE; Glaze, DG; Motil, KJ; et al.(2015). The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders. Pediatric Neurology, 53(5), 402-411. doi: 10.1016/j.pediatrneurol.2015.06.003. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/05z3j0mh

© 2015 Elsevier Inc. Purpose Survival in Rett syndrome remains unclear. Although early estimates were grim, more recent data suggest that survival into adulthood is typical. We aimed to define survival in Rett syndrome more clearly and identify risk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a9dee8355ef489371c8f068a3d97875f
https://escholarship.org/uc/item/05z3j0mh

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Improving Treatment Trial Outcomes for Rett Syndrome

Autor: Neul, JL, Glaze, DG, Percy, AK, Feyma, T, Beisang, A, Dinh, T, Suter, B, Anagnostou, E, Snape, M, Horrigan, J, Jones, NE

Publikováno v: Neul, JL; Glaze, DG; Percy, AK; Feyma, T; Beisang, A; Dinh, T; et al.(2015). Improving Treatment Trial Outcomes for Rett Syndrome. Journal of Child Neurology, 30(13), 1743-1748. doi: 10.1177/0883073815579707. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/8046n7gd

© The Author(s) 2015. Rett syndrome is a genetically based neurodevelopmental disorder. Although the clinical consequences of Rett syndrome are profound and lifelong, currently no approved drug treatments are available specifically targeted to Rett

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::a7657055ab9d760c821c9f03ee1e0e34
http://www.escholarship.org/uc/item/8046n7gd

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Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs

Autor: Herrera, JA, Ward, CS, Pitcher, MR, Percy, AK, Skinner, S, Kaufmann, WE, Glaze, DG, Wehrens, XHT, Neul, JL

Publikováno v: Herrera, JA; Ward, CS; Pitcher, MR; Percy, AK; Skinner, S; Kaufmann, WE; et al.(2015). Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs. DMM Disease Models and Mechanisms, 8(4), 363-371. doi: 10.1242/dmm.020131. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/8859509m

© 2015. Published by The Company of Biologists Ltd. One quarter of deaths associated with Rett syndrome (RTT), an X-linked neurodevelopmental disorder, are sudden and unexpected. RTT is associated with prolonged QTc interval (LQT), and LQT-associate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::42268cd2c7757effad71815fcd493f91
http://www.escholarship.org/uc/item/8859509m

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Erratum to Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome [Am J Med Genet Part A, 161A, (2014) 1638-1646]

Autor: Chapleau, CA, Lane, J, Kirwin, S, Schanen, C, Vinette, KMB, Stubbolo, D, Macleod, P, Glaze, DG, Motil, KJ, Neul, JL, Skinner, SA, Kaufmann, WE, Percy, AK

Publikováno v: Chapleau, CA; Lane, J; Kirwin, S; Schanen, C; Vinette, KMB; Stubbolo, D; et al.(2014). Erratum to Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome [Am J Med Genet Part A, 161A, (2014) 1638-1646]. American Journal of Medical Genetics, Part A, 164(5), 1346. doi: 10.1002/ajmg.a.36493. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/0353f9xc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::8b354be189d8c9e355365593edd4a184
http://www.escholarship.org/uc/item/0353f9xc

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Clinical and genetic heterogeneity in benign hereditary chorea

Autor: Breedveld, GJ Percy, AK MacDonald, ME De Vries, BBA and Yapijakis, C Dure, LS Ippel, EF Sandkuijl, LA Heutink, P and Arts, WFM

Background: Benign hereditary chorea (BHC) is an autosomal dominant disorder that can be distinguished from Huntington disease by its early onset, stable or only slightly progressive course, and absence of mental deterioration. The variation in clini

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::0ad899c213623bf9b18ea010ea2c98cc
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3082244

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