Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort
Symonds, Joseph D, Zuberi, Sameer M, Stewart, Kirsty, McLellan, Ailsa, O'Regan, Mary, MacLeod, Stewart, Jollands, Alice, Joss, Shelagh, Kirkpatrick, Martin, Brunklaus, Andreas, Pilz, Daniela T, Shetty, Jay, Dorris, Liam, Abu-Arafeh, Ishaq, Andrew, Jamie, Brink, Philip, Callaghan, Mary, Cruden, Jamie, Diver, Louise A, Findlay, Christine, Gardiner, Sarah, Grattan, Rosemary, Lang, Bethan, MacDonnell, Jane, McKnight, Jean, Morrison, Calum A, Nairn, Lesley, Slean, Meghan M, Stephen, Elma, Webb, Alan, Vincent, Angela, Wilson, Margaret
Published in Brain (London, England : 1878) (01.08.2019)
Published in Brain (London, England : 1878) (01.08.2019)
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Journal Article
Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts
Gardiner, Sarah L, Boogaard, Merel W, Trompet, Stella, de Mutsert, Renée, Rosendaal, Frits R, Gussekloo, Jacobijn, Jukema, J Wouter, Roos, Raymund A C, Aziz, N Ahmad
Published in Archives of neurology (Chicago) (01.06.2019)
Published in Archives of neurology (Chicago) (01.06.2019)
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Journal Article
Normal range CAG repeat size variations in the HTT gene are associated with an adverse lipoprotein profile partially mediated by body mass index
Faquih, Tariq O, Aziz, N Ahmad, Gardiner, Sarah L, Li-Gao, Ruifang, de Mutsert, Renée, Milaneschi, Yuri, Trompet, Stella, Jukema, J Wouter, Rosendaal, Frits R, van Hylckama Vlieg, Astrid, van Dijk, Ko Willems, Mook-Kanamori, Dennis O
Published in Human molecular genetics (05.05.2023)
Published in Human molecular genetics (05.05.2023)
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Journal Article
Spinocerebellar Ataxia Type 1 Characteristics in Patient‐Derived Fibroblast and iPSC‐Derived Neuronal Cultures
Buijsen, Ronald A.M., Hu, Michel, Sáez‐González, Maria, Notopoulou, Sofia, Mina, Eleni, Koning, Winette, Gardiner, Sarah L., Graaf, Linda M., Daoutsali, Elena, Pepers, Barry A., Mei, Hailiang, Dis, Vera, Frimat, Jean‐Philippe, Maagdenberg, Arn M. J. M., Petrakis, Spyros, Roon‐Mom, Willeke M.C.
Published in Movement disorders (01.08.2023)
Published in Movement disorders (01.08.2023)
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Journal Article
Repeat variations in polyglutamine disease–associated genes and cognitive function in old age
Gardiner, Sarah L., Trompet, Stella, Sabayan, Behnam, Boogaard, Merel W., Jukema, J. Wouter, Slagboom, P. Eline, Roos, Raymund A.C., van der Grond, Jeroen, Aziz, N. Ahmad
Published in Neurobiology of aging (01.12.2019)
Published in Neurobiology of aging (01.12.2019)
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Journal Article
Repeat length variations in polyglutamine disease-associated genes affect body mass index
Gardiner, Sarah L., de Mutsert, Renée, Trompet, Stella, Boogaard, Merel W., van Dijk, Ko Willems, Jukema, P. J. Wouter, Slagboom, P. Eline, Roos, Raymund A. C., Pijl, Hanno, Rosendaal, Frits R., Aziz, N. Ahmad
Published in International Journal of Obesity (01.03.2019)
Published in International Journal of Obesity (01.03.2019)
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Journal Article
Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes
Stuitje, Geerte, van Belzen, Martine J, Gardiner, Sarah L, van Roon-Mom, Willeke M C, Boogaard, Merel W, Tabrizi, Sarah J, Roos, Raymund A C, Aziz, N A
Published in Brain (London, England : 1878) (01.07.2017)
Published in Brain (London, England : 1878) (01.07.2017)
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Journal Article
Analyzing and Leveraging Social Media Disaster Communication of Natural Hazards: Community Sentiment and Messaging Regarding the Australian 2019/20 Bushfires
Gardiner, Sarah, Chen, Jinyan, Abreu Novais, Margarida, Dupré, Karine, Castley, J. Guy
Published in Societies (Basel, Switzerland) (01.05.2023)
Published in Societies (Basel, Switzerland) (01.05.2023)
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Journal Article
Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease
Gardiner, Sarah L., Harder, Aster V.E., Campman, Yvonne J.M., Trompet, Stella, Gussekloo, Jacobijn, van Belzen, Martine J., Boogaard, Merel W., Roos, Raymund A.C., Jansen, Iris E., Pijnenburg, Yolande A.L., Scheltens, Philip, van der Flier, Wiesje M., Aziz, N. Ahmad
Published in Neurobiology of aging (01.01.2019)
Published in Neurobiology of aging (01.01.2019)
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Journal Article
Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B
Buijsen, Ronald A.M., Gardiner, Sarah L., Bouma, Marga J., van der Graaf, Linda M., Boogaard, Merel W., Pepers, Barry A., Eussen, Bert, de Klein, Annelies, Freund, Christian, van Roon-Mom, Willeke M.C.
Published in Stem cell research (01.05.2018)
Published in Stem cell research (01.05.2018)
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Journal Article
Huntingtin gene repeat size variations affect risk of lifetime depression
Gardiner, Sarah L., van Belzen, Martine J., Boogaard, Merel W., van Roon-Mom, Willeke M. C., Rozing, Maarten P., van Hemert, Albert M., Smit, Johannes H., Beekman, Aartjan T. F., van Grootheest, Gerard, Schoevers, Robert A., Oude Voshaar, Richard C., Roos, Raymund A. C., Comijs, Hannie C., Penninx, Brenda W. J. H., van der Mast, Roos C., Aziz, N. Ahmad
Published in Translational psychiatry (11.12.2017)
Published in Translational psychiatry (11.12.2017)
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Journal Article
Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease
van der Graaf, Linda M., Gardiner, Sarah L., Tok, Merve, Brands, Tom, Boogaard, Merel W., Pepers, Barry A., Eussen, Bert, de Klein, Annelies, Aziz, N. Ahmad, Freund, Christian, Buijsen, Ronald A.M., van Roon-Mom, Willeke M.C.
Published in Stem cell research (01.08.2019)
Published in Stem cell research (01.08.2019)
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Journal Article
A multimodal strategy to improve race/ethnic group equity in administration of neutralizing monoclonal antibody treatment for COVID-19 outpatients
Fish, Lindsey E, Bendelow, Tiffany, Gardiner, Sarah, Wynia, Matthew K, Kwan, Bethany M, Hamer, Mika K, Ginde, Adit A, Hanratty, Rebecca
Published in Journal of clinical and translational science (2023)
Published in Journal of clinical and translational science (2023)
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Journal Article
Assessment Scales for Patients with Advanced Huntington's Disease: Comparison of the UHDRS and UHDRS‐FAP
Winder, Jessica Y., Achterberg, Wilco P., Marinus, Johan, Gardiner, Sarah L., Roos, Raymund A.C.
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.09.2018)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.09.2018)
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Journal Article
Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset
Gardiner, Sarah L, Milanese, Chiara, Boogaard, Merel W, Buijsen, Ronald A M, Hogenboom, Marye, Roos, Raymund A C, Mastroberardino, Pier G, van Roon-Mom, Willeke M C, Aziz, N Ahmad
Published in Neurology. Genetics (01.10.2018)
Published in Neurology. Genetics (01.10.2018)
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