Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Stephanie Bortnick"'
Autor:
Hailey Findlay Black, Chris Kay, Jessica Dawson, Stephanie Bortnick, Kyla Javier, Qingwen Xia, Cheuk Hin Chau, Tess Leavitt, Larissa Arning, Huu Phuc Nguyen, Michael R. Hayden
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101882- (2024)
ABSTRACT: Purpose: In Huntington disease (HD), synonymous variants causing loss or duplication of the interrupting CAA codon in the HTT CAG repeat modify disease onset. These variants are undetectable during HD genetic testing, resulting in inaccurat
Externí odkaz:
https://doaj.org/article/4e9696c78b4448d1923e17da1c298c47
Autor:
George D. Mellick, Peter A. Silburn, Javed Fowdar, Stephen A. Wood, Steven R. Bentley, Matthew J. Farrer, Stephanie Bortnick, Ilaria Guella
Publikováno v:
Parkinsonism & Related Disorders. 49:34-41
Introduction Family based study designs provide an informative resource to identify disease-causing mutations. The Queensland Parkinson's Project (QPP) has been involved in numerous genetic screening studies; however, details of the families enrolled
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::871a4135be4c5d18163dc29e2bb1b2d2
https://doi.org/10.1016/j.parkreldis.2017.12.033
https://doi.org/10.1016/j.parkreldis.2017.12.033
Autor:
Meriem Tazir, Richard H. Myers, Fatma Nabli, Jan O. Aasly, Alexis Brice, Marna B. McKenzie, Rim Amouri, Hazal Haytural, Stephanie Bortnick, Laura Parkkinen, Suzanne Lesage, Jaskaran Khinda, Matthew J. Farrer, Tatiana Foroud, Fayçal Hentati, Emna Hentati, Ekaterina Nosova, Emil K. Gustavsson, Samia Ben Sassi, E. Farhat, Jeanne C. Latourelle, Joanne Trinh, Chelsea Szu Tu, Carles Vilariño-Güell, Austen J. Milnerwood
Publikováno v:
The Lancet Neurology. 15:1248-1256
Summary Background Leucine-rich repeat kinase 2 ( LRRK2 ) mutation 6055G→A (Gly2019Ser) accounts for roughly 1% of patients with Parkinson's disease in white populations, 13–30% in Ashkenazi Jewish populations, and 30–40% in North African Arab-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4b62bdfdb156a7acee72fb0545290fb
https://doi.org/10.1016/s1474-4422(16)30203-4
https://doi.org/10.1016/s1474-4422(16)30203-4
Autor:
Owen A. Ross, Lefkos T. Middleton, Chelsea Szu-Tu, John C. Dalrymple-Alford, Ilaria Guella, Ekaterina Nosova, Laura Parkkinen, Gert J. Geurtsen, Matthew J. Farrer, Irene Litvan, Stephanie Bortnick, Jennifer G. Goldman, Daniel M. Evans
Publikováno v:
Annals of Neurology. 79:991-999
Objective The relationship between Parkinson disease (PD), PD with dementia (PDD), and dementia with Lewy bodies (DLB) has long been debated. Although PD is primarily considered a motor disorder, cognitive impairment is often present at diagnosis, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::55f2fc00f82320717221b84d725bf9a6
https://doi.org/10.1002/ana.24664
https://doi.org/10.1002/ana.24664
Autor:
Joanne Trinh, Jan O. Aasly, Stephanie Bortnick, Matthew J. Farrer, Maria Skaalum Petersen, Marna B. McKenzie, Emil K. Gustavsson
Background An initial diagnosis of Parkinson's disease (PD) is challenging, especially in patients who have early onset and atypical disease. A genetic etiology for parkinsonism, when established, ends that diagnostic odyssey and may inform prognosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d372fc2ba1b0150e7bc9e7e7be56acfa
https://europepmc.org/articles/PMC6174458/
https://europepmc.org/articles/PMC6174458/
