Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Heather M. O'Leary"'
Autor:
Walter E. Kaufmann, Alan K. Percy, Jeffrey L. Neul, Jenny Downs, Helen Leonard, Paige Nues, Girish D. Sharma, Theresa E. Bartolotta, Gillian S. Townend, Leopold M. G. Curfs, Orietta Mariotti, Claude Buda, Heather M. O’Leary, Lindsay M. Oberman, Vanessa Vogel-Farley, Katherine V. Barnes, Christopher U. Missling
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. Howe
Externí odkaz:
https://doaj.org/article/9f2f215cd3a24fd58dac55f46755ce60
Autor:
Katherine J. Roche, Jocelyn J. LeBlanc, April R. Levin, Heather M. O’Leary, Lauren M. Baczewski, Charles A. Nelson
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-14 (2019)
Abstract Background Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a developmental regression,
Externí odkaz:
https://doaj.org/article/8a952d7bb74a4127bd0df5c8827ebfe4
Autor:
April R. Levin, Kandice J. Varcin, Heather M. O’Leary, Helen Tager-Flusberg, Charles A. Nelson
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 9, Iss 1, Pp 1-13 (2017)
Abstract Background Alterations in brain development during infancy may precede the behavioral manifestation of developmental disorders. Infants at increased risk for autism are also at increased risk for other developmental disorders, including, qui
Externí odkaz:
https://doaj.org/article/39dc79bee10c461a906f6b1f0967f3f1
Publikováno v:
Frontiers in Neuroscience, Vol 12 (2018)
Electroencephalography (EEG) offers information about brain function relevant to a variety of neurologic and neuropsychiatric disorders. EEG contains complex, high-temporal-resolution information, and computational assessment maximizes our potential
Externí odkaz:
https://doaj.org/article/7c64a3b05f9d43b289db4d2711d30fcb
Autor:
Alexandra C. Walco, Charles A. Nelson, Mustafa Sahin, Daniel C. Tarquinio, Heather M. O’Leary, Kush Kapur, Mark E. Alexander, Ingrid A. Holm, Grace A. Bazin, Katherine Barnes, Nicole G. Cantwell, Lauren M. Baczewski, Katherine J. Roche, Juan M. Mayor Torres, Walter E. Kaufmann, Kshitiz Rakesh, Lindsay C. Swanson, Natalie M. Bruck, Suzanne A. Rose
Publikováno v:
Annals of Clinical and Translational Neurology
Objective To measure the efficacy of mecasermin (recombinant human insulin‐like growth factor 1, rhIGF‐1), for treating symptoms of Rett syndrome (RTT) in a pediatric population using a double‐blind crossover study design. Methods Thirty girls
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9584037ab4c9e8b0fe96433e22543669
https://doi.org/10.1002/acn3.533
https://doi.org/10.1002/acn3.533
Autor:
Marisela E. Dy, Kush Kapur, Heather M. O’Leary, Walter E. Kaufmann, Jeff L. Waugh, Alissa M. D'Gama, Mustafa Sahin, Nutan Sharma, David K. Urion
Publikováno v:
Pediatric Neurology. 75:91-95
Introduction Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (RTT) but are difficult to characterize and quantify systematically. Methods We collected video on 27 girls (2-12 years of age) with classic RTT who participated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6c414792e10b98ffe70dc05983a5560
https://doi.org/10.1016/j.pediatrneurol.2017.05.025
https://doi.org/10.1016/j.pediatrneurol.2017.05.025
Autor:
Heather M. O’Leary, April R. Levin, Charles A. Nelson, Jocelyn LeBlanc, Lauren M. Baczewski, Katherine J. Roche
Publikováno v:
Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-14 (2019)
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-14 (2019)
Background Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a developmental regression, and the d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa15d96a12d67e4ccaa09c3792b31f67
https://pubmed.ncbi.nlm.nih.gov/31362710
https://pubmed.ncbi.nlm.nih.gov/31362710
Autor:
Natalie M. Bruck, Peter B. Marschik, Walter E. Kaufmann, Heather M. O’Leary, Katherine Barnes, Omar Khwaja, Eugenia Ho, Tessa Clarkson
Publikováno v:
Developmental Neurorehabilitation. 20:108-114
Objective: To quantify pain response in girls affected by Rett syndrome (RTT) using electrodermal activity (EDA), a measure of skin conductance, reflecting sympathetic activity known to be modulated by physical and environmental stress. Methods: EDA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0790c284e61c1ff9e23de4f3fb1bc24d
https://doi.org/10.3109/17518423.2015.1087437
https://doi.org/10.3109/17518423.2015.1087437
Publikováno v:
EMBC
Rett syndrome (RTT) is a severe neurodevelopmental disorder that can cause pervasive wakeful respiratory disturbances that include tachypnea, breath-holding, and central apnea. Quantitative analysis of these respiratory disturbances in RTT is conside
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5bb953ae1904414dadc6d59a5e8ff51
https://doi.org/10.1109/embc.2017.8036857
https://doi.org/10.1109/embc.2017.8036857
Autor:
Nicole G. Cantwell, Charles A. Nelson, Vanessa Vogel-Farley, Yaron Finkelstein, Raina N. Fichorova, Heather M. O’Leary, Deirdre M. Finnegan, Matt Gregas, Walter E. Kaufmann, Geneva DeGregorio, Alexandra C. Walco, Mark E. Alexander, Omar Khwaja, Eugenia Ho, Ingrid A. Holm, Kush Kapur, Katherine Barnes, Michael W. Shannon, Mriganka Sur, Leonard Rappaport, Umakanth Khatwa, Luis M. Pereira
Publikováno v:
Proceedings of the National Academy of Sciences. 111:4596-4601
Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder mainly affecting females and is associated with mutations in MECP2, the gene encoding methyl CpG-binding protein 2. Mouse models suggest that recombinant human insulin-like growth f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e25964773add1e09c1932be3d9b2afe8
https://doi.org/10.1073/pnas.1311141111
https://doi.org/10.1073/pnas.1311141111