المؤلفون: Theresa König, Raphael Wurm, Tandis Parvizi, Sara Silvaieh, Christoph Hotzy, Hakan Cetin, Sigrid Klotz, Ellen Gelpi, Christian Bancher, Thomas Benke, Peter Dal-Bianco, Michaela Defrancesco, Peter Fischer, Josef Marksteiner, Hedwig Sutterlüty, Gerhard Ransmayr, Reinhold Schmidt, Alexander Zimprich, Elisabeth Stögmann

المصدر: Neurobiology of Disease, Vol 175, Iss , Pp 105927- (2022)

مصطلحات موضوعية: C9orf72 hexanucleotide repeat expansion, Intermediate repeats, Neurodegenerative diseases, Alzheimer dementia (AD), Frontotemporal dementia (FTD), Early onset dementia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996122003199; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/b33e5952807e41e09a340163a888807d

المؤلفون: Karri Kaivola, Samuli J. Salmi, Lilja Jansson, Jyrki Launes, Laura Hokkanen, Anna-Kaisa Niemi, Kari Majamaa, Jari Lahti, Johan G. Eriksson, Timo Strandberg, Hannu Laaksovirta, Pentti J. Tienari

المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: ALS, C9orf72, Intermediate repeats, Case-control analysis, Aging, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-020-01059-5; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/a038801e63d04347b39d721d50f892dc

المؤلفون: Hila Kobo, Orly Goldstein, Mali Gana-Weisz, Anat Bar-Shira, Tanya Gurevich, Avner Thaler, Anat Mirelman, Nir Giladi, Avi Orr-Urtreger

المصدر: Genes; Volume 12; Issue 8; Pages: 1210

مصطلحات موضوعية: Parkinson’s disease (PD), C9orf72, intermediate repeats, hexanucleotide expansions

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12081210

الاتاحة: https://doi.org/10.3390/genes12081210

المؤلفون: Kaivola, K. (Karri), Salmi, S. J. (Samuli J.), Jansson, L. (Lilja), Launes, J. (Jyrki), Hokkanen, L. (Laura), Niemi, A.-K. (Anna-Kaisa), Majamaa, K. (Kari), Lahti, J. (Jari), Eriksson, J. G. (Johan G.), Strandberg, T. (Timo), Laaksovirta, H. (Hannu), Tienari, P. J. (Pentti J.)

مصطلحات موضوعية: ALS, Aging, C9orf72, Case-control analysis, Intermediate repeats

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe202102124626

المؤلفون: Kaivola, Karri, Salmi, Samuli J., Jansson, Lilja, Launes, Jyrki, Hokkanen, Laura, Niemi, Anna-Kaisa, Majamaa, Kari, Lahti, Jari, Eriksson, Johan G., Strandberg, Timo, Laaksovirta, Hannu, Tienari, Pentti J.

المساهمون: TRIMM - Translational Immunology Research Program, University of Helsinki, Neurologian yksikkö, Helsinki University Hospital Area, HUS Neurocenter, Clinicum, Research Programs Unit, Medicum, Department of Psychology and Logopedics, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, HUS Internal Medicine and Rehabilitation, Timo Strandberg / Principal Investigator, Department of Medicine, Geriatrian yksikkö, Department of Neurosciences

مصطلحات موضوعية: ALS, C9orf72, Intermediate repeats, Case-control analysis, Aging, EXPANSIONS, DISEASE, SIZE, Neurosciences, Neurology and psychiatry, Psychology

وصف الملف: application/pdf

Relation: Funding This study was funded by the Finnish Cultural Foundation, the Paulo Foundation and The Finnish Brain Foundation sr, the Sigrid Juselius Foundation, Helsinki University Hospital grants (TYH2018213, TYH2019254), ALS tuttu ry and the Finnish Academy (318868).; Kaivola , K , Salmi , S J , Jansson , L , Launes , J , Hokkanen , L , Niemi , A-K , Majamaa , K , Lahti , J , Eriksson , J G , Strandberg , T , Laaksovirta , H & Tienari , P J 2020 , ' Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population ' , Acta Neuropathologica Communications , vol. 8 , no. 1 , 187 . https://doi.org/10.1186/s40478-020-01059-5; ORCID: /0000-0002-4310-5297/work/85116479; ORCID: /0000-0001-8342-9248/work/85118039; ORCID: /0000-0001-6299-925X/work/85118263; ORCID: /0000-0003-1218-4014/work/85118618; ORCID: /0000-0002-2380-8999/work/130603199; http://hdl.handle.net/10138/322712; 6f3c9155-f030-48ba-b1a6-92954d7ad547; 000590723000004

الاتاحة: http://hdl.handle.net/10138/322712

المؤلفون: Kaivola, K., Salmi, S.J., Jansson, L., Launes, J., Hokkanen, L., Niemi, A.-K., Majamaa, K., Lahti, J., Eriksson, J.G., Strandberg, T., Laaksovirta, H., Tienari, P.J.

المساهمون: OBSTETRICS & GYNAECOLOGY

المصدر: Scopus OA2020

مصطلحات موضوعية: Aging, ALS, C9orf72, Case-control analysis, Intermediate repeats

Relation: Kaivola, K., Salmi, S.J., Jansson, L., Launes, J., Hokkanen, L., Niemi, A.-K., Majamaa, K., Lahti, J., Eriksson, J.G., Strandberg, T., Laaksovirta, H., Tienari, P.J. (2020). Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population. Acta neuropathologica communications 8 (1) : 187. ScholarBank@NUS Repository. https://doi.org/10.1186/s40478-020-01059-5; https://scholarbank.nus.edu.sg/handle/10635/199388

الاتاحة: https://scholarbank.nus.edu.sg/handle/10635/199388

المؤلفون: Pentti J. Tienari, Jari Lahti, Lilja Jansson, Kari Majamaa, Jyrki Launes, Hannu Laaksovirta, Johan G. Eriksson, Samuli J. Salmi, Timo E. Strandberg, Anna-Kaisa Niemi, Laura Hokkanen, Karri Kaivola

المساهمون: TRIMM - Translational Immunology Research Program, University of Helsinki, Neurologian yksikkö, Helsinki University Hospital Area, HUS Neurocenter, Clinicum, Research Programs Unit, Medicum, Department of Psychology and Logopedics, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, HUS Internal Medicine and Rehabilitation, Timo Strandberg / Principal Investigator, Department of Medicine, Geriatrian yksikkö, Department of Neurosciences

المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-9 (2020)
Acta Neuropathologica Communications

مصطلحات موضوعية: Male, Aging, DISEASE, 3124 Neurology and psychiatry, lcsh:RC346-429, 0302 clinical medicine, Risk Factors, C9orf72, Corticobasal degeneration, Case-control analysis, Amyotrophic lateral sclerosis, 10. No inequality, Finland, Aged, 80 and over, Genetics, 0303 health sciences, DNA Repeat Expansion, Intermediate repeats, Middle Aged, 3. Good health, Survival Rate, EXPANSIONS, Female, Frontotemporal dementia, Adult, Adolescent, 515 Psychology, Biology, Population stratification, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, medicine, Humans, Risk factor, Allele, Alleles, lcsh:Neurology. Diseases of the nervous system, Aged, 030304 developmental biology, C9orf72 Protein, Research, Amyotrophic Lateral Sclerosis, 3112 Neurosciences, medicine.disease, SIZE, Case-Control Studies, Neurology (clinical), ALS, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d298908e8e5affb721c304bb7c014372
http://urn.fi/urn:nbn:fi-fe202102124626

المؤلفون: Ha, Ainhi D., Beck, Christopher A., Jankovic, Joseph

المصدر: Tremor and Other Hyperkinetic Movements; Vol. 2 (2012); tre-02-64-287-4 ; 2160-8288

مصطلحات موضوعية: Huntington disease, trinucleotide repeats, chorea, intermediate repeats, genetic counseling, huntingtin gene

وصف الملف: application/pdf; application/epub+zip; application/xml

Relation: https://account.tremorjournal.org/index.php/up-j-tohm/article/view/85/925; https://account.tremorjournal.org/index.php/up-j-tohm/article/view/85/81; https://account.tremorjournal.org/index.php/up-j-tohm/article/view/85/926; https://account.tremorjournal.org/index.php/up-j-tohm/article/view/85

الاتاحة: https://account.tremorjournal.org/index.php/up-j-tohm/article/view/85
https://doi.org/10.5334/tohm.85

المؤلفون: Ainhi D. Ha, Christopher A. Beck, Joseph Jankovic, Elan D. Louis

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.tremorjournal.org/index.php/tremor/article/download/64/pdf/.

مصطلحات موضوعية: Huntington disease, trinucleotide repeats, chorea, intermediate repeats, genetic counseling, huntingtin gene

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.679.5983; http://www.tremorjournal.org/index.php/tremor/article/download/64/pdf/

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.679.5983
http://www.tremorjournal.org/index.php/tremor/article/download/64/pdf/