Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Vanessa Vogel-Farley"'
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:
Anne C. Wheeler, Marie G. Gantz, Heidi Cope, Theresa V. Strong, Jessica E. Bohonowych, Amanda Moore, Vanessa Vogel-Farley
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-8 (2023)
Abstract Objective The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 1
Externí odkaz:
https://doaj.org/article/434a381b379343b9abaa2e065df63406
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100999- (2023)
Background: Cystathionine beta synthase deficiency (causing classical homocystinuria) has been associated with high-arched palates and crowded teeth, but little has been said about other oral health complications. Other homocystinurias (e.g., the rem
Externí odkaz:
https://doaj.org/article/d5d8f0e3122a4ca79d1562922178cbe0
Autor:
Dale C. Hesdorffer, PhD, Barbara L. Kroner, PhD, Jing Shen, PhD, Kathleen Farrell, MB, BCh, BAO, Steve Roberds, PhD, Brandy Fureman, PhD, Brianne McDonald, Lynn Egan, Monika Jones, Monica Weldon, Michael Harris, Kim Rice, Vinez Campbell, Juliann Brandish, Cindy Kercheval, Nichole Villas, Mary Ann Meskis, Vanessa Vogel-Farley, Ilene Miller, JD, Mike Bartenhagen, Heidi Grabenstatter, PhD, Karen Utley, Paige Nues, Angela Cherry, Gina Vozenilek, Scotty Sims, Tracy Dixon Salazar, PhD, Christina SanInocencio, MS, Stephanie Forman, Nora Wong, Kim Bischoff, Julie Walters, Megan O’Boyle, Geraldine Bliss, Audrey Davidow, Lisa Schoyer, Yssa DeWoody, PhD, Kira Wagner, Michael Arcieri, Amber Freed, Kim Nye, Jo Anne Nakagawa, JayEtta Hecker
Publikováno v:
The Journal of Pediatrics: X, Vol 2, Iss , Pp 100021- (2020)
Objective: To evaluate the impact of pediatric sleep disturbances and night-time seizure monitoring of children with rare epilepsy syndromes on the sleep quality and mental health of caregivers. Study design: A cross-sectional study was conducted usi
Externí odkaz:
https://doaj.org/article/4d344e0f844b48a68a42cce3eb0d52ce
Autor:
Adrienne L Tierney, Laurel Gabard-Durnam, Vanessa Vogel-Farley, Helen Tager-Flusberg, Charles A Nelson
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e39127 (2012)
Current research suggests that autism spectrum disorder (ASD) is characterized by asynchronous neural oscillations. However, it is unclear whether changes in neural oscillations represent an index of the disorder or are shared more broadly among both
Externí odkaz:
https://doaj.org/article/01a41d25b6d94d4aacda74f22711c805
Autor:
Benjamin J Balas, Charles A Nelson, Alissa Westerlund, Vanessa Vogel-Farley, Tracy Riggins, Dana Kuefner
Publikováno v:
Frontiers in Human Neuroscience, Vol 4 (2010)
Infant face processing becomes more selective during the first year of life as a function of varying experience with distinct face categories defined by species, race, and age. Given that any individual face belongs to many such categories (e.g. A yo
Externí odkaz:
https://doaj.org/article/540c5cd80982404bb415e5d76571daed
Autor:
Anne Wheeler, Marie G. Gantz, Heidi Cope, Theresa V. Strong, Jessica E. Bohonowych, Amanda Moore, Vanessa Vogel-Farley
Objective: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes on chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and Duplication 15q syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b4bae50c4a656fb8e15ae8fc9fcccdb
https://doi.org/10.21203/rs.3.rs-2022497/v1
https://doi.org/10.21203/rs.3.rs-2022497/v1
Autor:
Elizabeth Buttermore, Stormy Chamberlain, Jannine Cody, Gregory Costain, Louis Dang, Andrew DeWoody, Yssa DeWoody, Kira Dies, Evan Eichler, Santhosh Girirajan, Marie Gramm, Alycia Halladay, Dennis Lal, Matthew Lalli, Tess Levy, Glennis Logsdon, Daniel Lowenstein, Heather Mefford, Jennifer Mulle, Alysson Muotri, Melissa Murphy, Eduardo Perez Palma, Stefan Pinter, Rebecca Pollak, Ryan Purcell, Rodney Samaco, Bina Shah, Karun Singh, Joyce So, Maria Sundberg, Surabi Veeraragavan, Vanessa Vogel-Farley, Anthony Wynshaw-Boris
Publikováno v:
Am J Hum Genet
Copy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex phenotypes, the overlap in phenotypic presentation between independent CNVs c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0540d7d6b7ef8fac51990e15ee9abe10
https://europepmc.org/articles/PMC9388383/
https://europepmc.org/articles/PMC9388383/
Autor:
Ilene Miller, Heidi L. Grabenstatter, Monika Jones, Vanessa Vogel-Farley, Laura Lubbers, Brandy E. Fureman, JayEtta Hecker, Steve Roberds, Mary Anne Meskis
Publikováno v:
Epilepsy Currents
Autor:
Anup D. Patel, Sharon Chiang, Mary Anne Meskis, Vanessa Vogel-Farley, Robert Moss, Joseph Sullivan, Vikram R. Rao
Publikováno v:
Epilepsybehavior : EB. 123
Objective Adults living with intellectual and developmental disability (IDD) and epilepsy (IDD-E) face challenges in addition to those faced by the general population of adults with epilepsy, which may be associated with distinct priorities for impro