Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Deborah F. Hill"'
Autor:
Niki Boggs, Allison Brashear, Mark Stacy, Jared F. Cook, Cynthia K. Suerken, Kathleen J. Sweadner, Deborah F. Hill, Ihtsham Haq, W. Vaughn McCall, Laurie J. Ozelius, Beverly M. Snively
Publikováno v:
Movement Disorders. 29:344-350
Background Rapid-Onset Dystonia-Parkinsonism (RDP) is caused by mutations in the ATP1A3 gene. This observational study sought to determine if cognitive performance is decreased in patients with RDP compared with mutation-negative controls.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::089ee31a895d6e4cf54fa512b1350b2c
https://doi.org/10.1002/mds.25790
https://doi.org/10.1002/mds.25790
Autor:
Maria Chait, Deborah F. Hill, Jonathan Z. Simon, D. Lynn Flowers, David Poeppel, Guinevere F. Eden
Publikováno v:
Brain and Language. 102:80-90
Individuals with developmental dyslexia are often impaired in their ability to process certain linguistic and even basic non-linguistic auditory signals. Recent investigations report conflicting findings regarding impaired low-level binaural detectio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74efb406bfcab03d1a8452898094117c
https://doi.org/10.1016/j.bandl.2006.07.001
https://doi.org/10.1016/j.bandl.2006.07.001
Publikováno v:
Annals of Dyslexia. 55:193-216
Study 1 retrospectively analyzed neuropsychological and psychoeducational tests given to N=220 first graders, with follow-up assessments in third and eighth grade. Four predictor constructs were derived: (1) Phonemic Awareness, (2) Picture Vocabulary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68e0e6631a921a9679c34ef580f784aa
https://doi.org/10.1007/s11881-005-0011-x
https://doi.org/10.1007/s11881-005-0011-x
Autor:
Jared F. Cook, Niki Boggs, Allison Brashear, Cynthia K. Suerken, Kathleen J. Sweadner, Alethea Amponsah, Laney S. Light, Laurie J. Ozelius, W. Vaughn McCall, Beverly M. Snively, Mark Stacy, Deborah F. Hill
Publikováno v:
Neurology. 79(11)
Objective: Rapid-onset dystonia-parkinsonism (RDP) is caused by a variety of missense mutations in the ATP1A3 gene. Psychiatric comorbidity has been reported, although systematic examination of psychiatric disease in individuals with RDP is lacking.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5ecc44547bc016caf3081348ffe5443
https://pubmed.ncbi.nlm.nih.gov/22933743
https://pubmed.ncbi.nlm.nih.gov/22933743
Autor:
Leslie Morrison, W. Vaughn McCall, Kathleen J. Sweadner, Beverly M. Snively, Mark Stacy, Niki Boggs, Allison Brashear, Laney S. Light, Deborah F. Hill, Laurie J. Ozelius, Jonathan W. Mink
We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72856a0737b2972b27880bf17c6257ad
https://europepmc.org/articles/PMC3465467/
https://europepmc.org/articles/PMC3465467/
Autor:
Niki Boggs, Laney S. Light, Mark Stacy, Allison Brashear, McCall Wv, Kathleen J. Sweadner, Jared F. Cook, Deborah F. Hill, Laurie J. Ozelius, C. Suerken, Alethea Amponsah, Beverly M. Snively
Publikováno v:
Neurology. 78:P01.225-P01.225
Objective: Elevated rates of psychiatric disease and cognitive dysfunction have been found in primary dystonias. These features have not been studied in Rapid-Onset Dystonia-Parkinsonism (RDP), DYT12. Data are presented for 47 individuals (with or wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3669a741c111a19acd55af93841384ea
https://doi.org/10.1212/wnl.78.1_meetingabstracts.p01.225
https://doi.org/10.1212/wnl.78.1_meetingabstracts.p01.225