Zobrazeno 1 - 10 of 560 pro vyhledávání: '"Gardiner SL"'
1
Akademický článek
Spinocerebellar Ataxia Type 1 Characteristics in Patient-Derived Fibroblast and iPSC-Derived Neuronal Cultures.
Autor: Buijsen RAM; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Hu M; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Sáez-González M; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Notopoulou S; Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece., Mina E; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Koning W; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Gardiner SL; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., van der Graaf LM; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Daoutsali E; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Pepers BA; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Mei H; Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., van Dis V; Department of Pathology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Pathology, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands., Frimat JP; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., van den Maagdenberg AMJM; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Petrakis S; Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece., van Roon-Mom WMC; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.
Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Aug; Vol. 38 (8), pp. 1428-1442. Date of Electronic Publication: 2023 Jun 06.
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2
Akademický článek
Normal range CAG repeat size variations in the HTT gene are associated with an adverse lipoprotein profile partially mediated by body mass index.
Autor: Faquih TO; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands., Aziz NA; Population Health Sciences, German Center for Neurodegenerative Diseases (DZNE), Bonn 53175, Germany.; Department of Neurology, Bonn University Hospital, Bonn 53175, Germany., Gardiner SL; Department of Neurology, Amsterdam UMC, Amsterdam 1080 HZ, The Netherlands., Li-Gao R; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.; Metabolon, Inc., Morrisville, NC 27560, USA., de Mutsert R; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands., Milaneschi Y; Department of Psychiatry, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam 1081 HZ, The Netherlands.; Amsterdam Public Health, Mental Health Program, Amsterdam 1081 HZ, The Netherlands.; Amsterdam Neuroscience, Mood, Anxiety, Psychosis, Sleep & Stress Program, Amsterdam 1081 HZ, The Netherlands.; Amsterdam Neuroscience, Complex Trait Genetics, Amsterdam 1081 HV, The Netherlands., Trompet S; Department of Internal Medicine, Leiden University Medical Center, Leiden 2300 RC, The Netherlands., Jukema JW; Department of Cardiology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands., Rosendaal FR; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands., van Hylckama Vlieg A; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands., van Dijk KW; Department of Human Genetics, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.; Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.; Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden 2300 RC, The Netherlands., Mook-Kanamori DO; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.; Department of Public Health and Primary Care, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.
Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 May 05; Vol. 32 (10), pp. 1741-1752.
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3
Akademický článek
The pathobiology of depression in Huntington's disease: an unresolved puzzle.
Autor: Jellinger KA; Institute of Clinical Neurobiology, Alberichgasse 5/13, 1150, Vienna, Austria. kurt.jellinger@univie.ac.at.
Publikováno v: Journal of neural transmission (Vienna, Austria : 1996) [J Neural Transm (Vienna)] 2024 Dec; Vol. 131 (12), pp. 1511-1522. Date of Electronic Publication: 2024 Feb 13.
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4
Akademický článek
White Matter Microstructure Changes Revealed by Diffusion Kurtosis and Diffusion Tensor Imaging in Mutant Huntingtin Gene Carriers.
Autor: Yin, Jin-Hui1,2 (AUTHOR), Liu, Ya-Ou3 (AUTHOR), Li, Hong-Liang4 (AUTHOR), Burgunder, Jean Marc5 (AUTHOR), Huang, Yue1,2,6 (AUTHOR) yue.huang@ncrcnd.org.cn
Publikováno v: Journal of Huntington's Disease. 2024, Vol. 13 Issue 3, p301-313. 13p.
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5
Akademický článek
Modifiable factors associated with Huntington's disease progression in presymptomatic participants.
Autor: Gil‐Salcedo, Andres1,2,3,4 (AUTHOR) andres.gil-salcedo@inserm.fr, Massart, Renaud1,2,3,4 (AUTHOR), de Langavant, Laurent Cleret1,2,3,4,5 (AUTHOR), Bachoud‐Levi, Anne‐Catherine1,2,3,4,5 (AUTHOR)
Publikováno v: Annals of Clinical & Translational Neurology. Jul2024, Vol. 11 Issue 7, p1930-1941. 12p.
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6
Akademický článek
Repeat variations in polyglutamine disease-associated genes and cognitive function in old age.
Autor: Gardiner SL; Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands; Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands. Electronic address: s.l.gardiner@lumc.nl., Trompet S; Department of Internal Medicine, Section of Gerontology and Geriatrics, Leiden University Medical Centre, Leiden, the Netherlands., Sabayan B; The Ken and Ruth Davee Department of Neurology, Northwestern University, Chicago, IL, USA., Boogaard MW; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Jukema JW; Department of Cardiology, Leiden University Medical Centre, Leiden, the Netherlands., Slagboom PE; Department of Molecular Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands., Roos RAC; Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands., van der Grond J; Department of Radiology, Leiden University Medical Centre, Leiden, the Netherlands., Aziz NA; Population Health Sciences, German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany; Department of Neurology, University of Bonn, Bonn, Germany.
Publikováno v: Neurobiology of aging [Neurobiol Aging] 2019 Dec; Vol. 84, pp. 236.e17-236.e28. Date of Electronic Publication: 2019 Aug 09.
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7
Akademický článek
Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease.
Autor: van der Graaf LM; Department of Human Genetics, LUMC, Leiden, The Netherlands. Electronic address: L.M.van_der_Graaf@lumc.nl., Gardiner SL; Department of Neurology, LUMC, Leiden, The Netherlands., Tok M; Department of Cell and Chemical Biology, LUMC, Leiden, The Netherlands., Brands T; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands; Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands., Boogaard MW; Department of Clinical Genetics, LUMC, Leiden, The Netherlands., Pepers BA; Department of Human Genetics, LUMC, Leiden, The Netherlands., Eussen B; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., de Klein A; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Aziz NA; German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany., Freund C; LUMC hiPSC Core Facility, Department of Anatomy and Embryology, LUMC, Leiden, The Netherlands., Buijsen RAM; Department of Human Genetics, LUMC, Leiden, The Netherlands., van Roon-Mom WMC; Department of Human Genetics, LUMC, Leiden, The Netherlands.
Publikováno v: Stem cell research [Stem Cell Res] 2019 Aug; Vol. 39, pp. 101498. Date of Electronic Publication: 2019 Jul 12.
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8
Akademický článek
Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts.
Autor: Gardiner SL; Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.; Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Boogaard MW; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Trompet S; Section of Gerontology and Geriatrics, Department of Internal Medicine, Leiden University Medical Centre, Leiden, the Netherlands., de Mutsert R; Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands., Rosendaal FR; Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands., Gussekloo J; Section of Gerontology and Geriatrics, Department of Internal Medicine, Leiden University Medical Centre, Leiden, the Netherlands.; Department of Public Health and Primary Care, Leiden University Medical Centre, Leiden, the Netherlands., Jukema JW; Department of Cardiology, Leiden University Medical Centre, Leiden, the Netherlands., Roos RAC; Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands., Aziz NA; German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.
Publikováno v: JAMA neurology [JAMA Neurol] 2019 Jun 01; Vol. 76 (6), pp. 650-656.
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9
Akademický článek
Longitudinal assessment of the Unified Huntington's Disease Rating Scale (UHDRS) and UHDRS-For Advanced Patients (UHDRS-FAP) in patients with late stage Huntington's disease.
Autor: Winder JY; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Achterberg WP; Department of Public Health and Primary Care, Leiden University Medical Center, Leiden, The Netherlands.; Huntington Center Topaz Overduin, Katwijk, The Netherlands., Gardiner SL; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Roos RAC; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Publikováno v: European journal of neurology [Eur J Neurol] 2019 May; Vol. 26 (5), pp. 780-785. Date of Electronic Publication: 2019 Jan 27.
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10
Akademický článek
Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias.
Autor: Buijsen RAM; Department of Human Genetics, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands. R.A.M.Buijsen@lumc.nl., Toonen LJA; Department of Human Genetics, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands., Gardiner SL; Department of Human Genetics, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.; Department of Neurology, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands., van Roon-Mom WMC; Department of Human Genetics, LUMC, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.
Publikováno v: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2019 Apr; Vol. 16 (2), pp. 263-286.
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