DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study
Trinh, Joanne, BSc, Gustavsson, Emil K, MSc, Vilariño-Güell, Carles, PhD, Bortnick, Stephanie, BSc, Latourelle, Jeanne, PhD, McKenzie, Marna B, BSc, Tu, Chelsea Szu, MSc, Nosova, Ekaterina, PhD, Khinda, Jaskaran, BSc, Milnerwood, Austen, PhD, Lesage, Suzanne, PhD, Brice, Alexis, MD, Tazir, Meriem, MD, Aasly, Jan O, MD, Parkkinen, Laura, PhD, Haytural, Hazal, MSc, Foroud, Tatiana, PhD, Myers, Richard H, PhD, Sassi, Samia Ben, MD, Hentati, Emna, MD, Nabli, Fatma, MD, Farhat, Emna, MD, Amouri, Rim, PhD, Hentati, Fayçal, MD, Farrer, Matthew J, Dr
Published in Lancet neurology (01.11.2016)
Published in Lancet neurology (01.11.2016)
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Journal Article
α-synuclein genetic variability: A biomarker for dementia in Parkinson disease
Guella, Ilaria, Evans, Daniel M., Szu-Tu, Chelsea, Nosova, Ekaterina, Bortnick, Stephanie F., Goldman, Jennifer G., Dalrymple-Alford, John C., Geurtsen, Gert J., Litvan, Irene, Ross, Owen A., Middleton, Lefkos T., Parkkinen, Laura, Farrer, Matthew J.
Published in Annals of neurology (01.06.2016)
Published in Annals of neurology (01.06.2016)
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Journal Article
Mutant COQ2 in Multiple-System Atrophy
Jeon, Beom S, Farrer, Matt J, Bortnick, Stephanie F, Sharma, Manu, Wenning, Gregor, Krüger, Rejko, Schottlaender, Lucia V, Houlden, Henry, Quinzii, Catarina M, Hirano, Michio, DiMauro, Salvatore, Mitsui, Jun, Tsuji, Shoji
Published in The New England journal of medicine (03.07.2014)
Published in The New England journal of medicine (03.07.2014)
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Journal Article
Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease
Findlay Black, Hailey, Kay, Chris, Dawson, Jessica, Bortnick, Stephanie, Javier, Kyla, Xia, Qingwen, Chau, Cheuk Hin, Leavitt, Tess, Arning, Larissa, Nguyen, Huu Phuc, Hayden, Michael R.
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort
Dawson, Jessica, Kay, Chris, Black, Hailey Findlay, Bortnick, Stephanie, Javier, Kyla, Xia, Qingwen, Sandhu, Akshdeep, Buchanan, Christina, Hogg, Virginia, Chang, Florence C.F., Goto, Jun, Arning, Larissa, Saft, Carsten, Bijlsma, Emilia K., Nguyen, Huu P., Roxburgh, Richard, Hayden, Michael R.
Published in Genetics in medicine (01.11.2024)
Published in Genetics in medicine (01.11.2024)
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Journal Article
Pipeline to gene discovery - Analysing familial Parkinsonism in the Queensland Parkinson's Project
Bentley, Steven R., Bortnick, Stephanie, Guella, Ilaria, Fowdar, Javed Y., Silburn, Peter A., Wood, Stephen A., Farrer, Matthew J., Mellick, George D.
Published in Parkinsonism & related disorders (01.04.2018)
Published in Parkinsonism & related disorders (01.04.2018)
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Journal Article
[alpha]-synuclein genetic variability: A biomarker for dementia in Parkinson disease
Guella, Ilaria, Evans, Daniel M, Szu-Tu, Chelsea, Nosova, Ekaterina, Bortnick, Stephanie F, Goldman, Jennifer G, Dalrymple-Alford, John C, Geurtsen, Gert J, Litvan, Irene, Ross, Owen A, Middleton, Lefkos T, Parkkinen, Laura, Farrer, Matthew J
Published in Annals of neurology (01.06.2016)
Published in Annals of neurology (01.06.2016)
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Journal Article
Genetic Identification in Early Onset Parkinsonism among Norwegian Patients
Gustavsson, Emil K., Trinh, Joanne, McKenzie, Marna, Bortnick, Stephanie, Petersen, Maria Skaalum, Farrer, Matthew J., Aasly, Jan O.
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.07.2017)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.07.2017)
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Journal Article
Mutant COQ2 in multiple-system atrophy
Jeon, Beom S, Farrer, Matt J, Bortnick, Stephanie F
Published in The New England journal of medicine (03.07.2014)
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Published in The New England journal of medicine (03.07.2014)
Journal Article