المؤلفون: Renton, Ae, Majounie, E, Waite, A, Simón Sánchez, J, Rollinson, S, Gibbs, Jr, Schymick, Jc, Laaksovirta, H, van Swieten, Jc, Myllykangas, L, Kalimo, H, Paetau, A, Abramzon, Y, Remes, Am, Kaganovich, A, Scholz, Sw, Duckworth, J, Ding, J, Harmer, Dw, Hernandez, Dg, Johnson, Jo, Mok, K, Ryten, M, Trabzuni, D, Guerreiro, Rj, Orrell, Rw, Neal, J, Murray, A, Pearson, J, Jansen, Ie, Sondervan, D, Seelaar, H, Blake, D, Young, K, Halliwell, N, Callister, Jb, Toulson, G, Richardson, A, Gerhard, A, Snowden, J, Mann, D, Neary, D, Nalls, Ma, Peuralinna, T, Jansson, L, Isoviita, Vm, Kaivorinne, Al, Hölttä Vuori, M, Ikonen, E, Sulkava, R, Benatar, M, Wuu, J, Chiò, A, Restagno, G, Borghero, G, Sabatelli, M, Italsgen, Consortium, Heckerman, D, Rogaeva, E, Zinman, L, Rothstein, Jd, Sendtner, M, Drepper, C, Eichler, Ee, Alkan, C, Abdullaev, Z, Pack, Sd, Dutra, A, Pak, E, Hardy, J, Singleton, A, Williams, Nm, Heutink, P, Pickering Brown, S, Morris, Hr, Tienari, Pj, Traynor, Bj, Calvo, A, Cammarosano, S, Moglia, C, Canosa, A, Gallo, S, Brunetti, M, Ossola, I, Mora, G, Marinou, K, Papetti, L, Conte, A, Luigetti, M, La Bella, V, Spataro, R, Colletti, T, Battistini, S, Giannini, Fabio, Ricci, C, Caponnetto, C, Mancardi, G, Mandich, P, Salvi, F, Bartolomei, I, Mandrioli, J, Sola, P, Corbo, M, Lunetta, C, Penco, S, Monsurrò, Mr, Tedeschi, G, Conforti, Fl, Volanti, P, Floris, G, Cannas, A, Piras, V, Murru, Mr, Marrosu, Mg, Pugliatti, M, Ticca, A, Simone, I, Logroscino, G

المساهمون: Neuroscience Campus Amsterdam - Systems Biology of the Synapse, Neuroscience Campus Amsterdam - Neurodegeneration, Renton, Ae, Majounie, E, Waite, A, Simón Sánchez, J, Rollinson, S, Gibbs, Jr, Schymick, Jc, Laaksovirta, H, van Swieten, Jc, Myllykangas, L, Kalimo, H, Paetau, A, Abramzon, Y, Remes, Am, Kaganovich, A, Scholz, Sw, Duckworth, J, Ding, J, Harmer, Dw, Hernandez, Dg, Johnson, Jo, Mok, K, Ryten, M, Trabzuni, D, Guerreiro, Rj, Orrell, Rw, Neal, J, Murray, A, Pearson, J, Jansen, Ie, Sondervan, D, Seelaar, H, Blake, D, Young, K, Halliwell, N, Callister, Jb, Toulson, G, Richardson, A, Gerhard, A, Snowden, J, Mann, D, Neary, D, Nalls, Ma, Peuralinna, T, Jansson, L, Isoviita, Vm, Kaivorinne, Al, Hölttä Vuori, M, Ikonen, E, Sulkava, R, Benatar, M, Wuu, J, Chiò, A, Restagno, G, Borghero, G, Sabatelli, M, Italsgen, Consortium, Heckerman, D, Rogaeva, E, Zinman, L, Rothstein, Jd, Sendtner, M, Drepper, C, Eichler, Ee, Alkan, C, Abdullaev, Z, Pack, Sd, Dutra, A, Pak, E, Hardy, J, Singleton, A, Williams, Nm, Heutink, P, Pickering Brown, S, Morris, Hr, Tienari, Pj, COLLABORATORS: Calvo A, Traynor B. J., Cammarosano, S, Moglia, C, Canosa, A, Gallo, S, Brunetti, M, Ossola, I, Mora, G, Marinou, K, Papetti, L, Conte, A, Luigetti, M, La Bella, V, Spataro, R, Colletti, T, Battistini, S, Giannini, F, Ricci, C, Caponnetto, C, Mancardi, G, Mandich, P, Salvi, F, Bartolomei, I, Mandrioli, J, Sola, P, Corbo, M, Lunetta, C, Penco, S, Monsurro', Maria Rosaria, Tedeschi, Gioacchino, Conforti, Fl, Volanti, P, Floris, G, Cannas, A, Piras, V, Murru, Mr, Marrosu, Mg, Pugliatti, M, Ticca, A, Simone, I, Logroscino, G., Neurology, Human genetics, NCA - Systems Biology of the Synapse, NCA - Neurodegeneration

المصدر: Renton, A E, Majounie, E, Waite, A, Simon-Sanchez, J, Rollinson, S, Gibbs, J R, Schymick, J C, Laaksovirta, H, van Swieten, J C, Myllykangas, L, Kalimo, H, Paetau, A, Abramzon, Y, Remes, A M, Kaganovich, A, Scholz, S W, Duckworth, J, Ding, J H, Harmer, D W, Hernandez, D G, Johnson, J O, Mok, K, Ryten, M, Trabzuni, D, Guerreiro, R J, Orrell, R W, Neal, J, Murray, A, Pearson, J, Jansen, I E, Sondervan, D, Seelaar, H, Blake, D, Young, K, Halliwell, N, Callister, J B, Toulson, G, Richardson, A, Gerhard, A, Snowden, J, Mann, D, Neary, D, Nalls, M A, Peuralinna, T, Jansson, L, Isoviita, V M, Kaivorinne, A L, Holtta-Vuori, M, Ikonen, E, Sulkava, R, Benatar, M, Wuu, J, Chio, A, Restagno, G, Borghero, G, Sabatelli, M, Heckerman, D, Rogaeva, E, Zinman, L, Rothstein, J D, Sendtner, M, Drepper, C, Eichler, E E, Alkan, C, Abdullaev, Z, Pack, S D, Dutra, A, Pak, E, Hardy, J, Singleton, A, Williams, N M, Heutink, P, Pickering-Brown, S, Morris, H R, Tienari, P J & Traynor, B J 2011, ' A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD ', Neuron, vol. 72, no. 2, pp. 257-268 . https://doi.org/10.1016/j.neuron.2011.09.010
Neuron, 72(2), 257-268. Cell Press
Neuron; Vol 72
Neuron (Camb. Mass.) (2011).
info:cnr-pdr/source/autori:Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M, ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. (2011)./titolo:A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD./doi:/rivista:Neuron (Camb. Mass.)/anno:2011/pagina_da:/pagina_a:/intervallo_pagine:/volume

مصطلحات موضوعية: Male, Genotype, Neuroscience(all), Population, Biology, TARDBP, Chromosomes, 03 medical and health sciences, 0302 clinical medicine, Alleles, Amyotrophic Lateral Sclerosis, genetics, Chromosomes, Human, Pair 9, Female, Finland, Frontotemporal Dementia, genetics, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Male, Microsatellite Repeats, Pedigree, Polymorphism, Single Nucleotide, SDG 3 - Good Health and Well-being, C9orf72, Humans, genetics, Genetic Predisposition to Disease, Polymorphism, education, Alleles, Finland, 030304 developmental biology, Genetics, 0303 health sciences, education.field_of_study, General Neuroscience, Haplotype, Amyotrophic Lateral Sclerosis, Charged multivesicular body protein 2B, DNA Repeat Expansion, 3. Good health, Pedigree, C9orf72 Protein, Haplotypes, Frontotemporal Dementia, Female, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Pair 9, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b07cff1d47edca42efbe09a4bba74b4
https://research.vu.nl/en/publications/43ac1167-0bfb-43c8-a246-50dcf9310208

المؤلفون: Kaivorinne AL; Department of Neurology Lapland Hospital District Lapland Central Hospital Rovaniemi Finland., Lintunen J; Department of Neurology Lapland Hospital District Lapland Central Hospital Rovaniemi Finland., Baumann P; Department of Neurology Lapland Hospital District Lapland Central Hospital Rovaniemi Finland.

المصدر: Clinical case reports [Clin Case Rep] 2016 Jul 11; Vol. 4 (8), pp. 782-5. Date of Electronic Publication: 2016 Jul 11 (Print Publication: 2016).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904 (Print) Linking ISSN: 20500904 NLM ISO Abbreviation: Clin Case Rep Subsets: PubMed not MEDLINE

المؤلفون: Suhonen NM; a Institute of Clinical Medicine, Neurology , University of Oulu , Oulu , Finland., Kaivorinne AL, Moilanen V, Bode M, Takalo R, Hänninen T, Remes AM

المصدر: Neurocase [Neurocase] 2015 Feb; Vol. 21 (1), pp. 85-9. Date of Electronic Publication: 2014 Jan 14.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Routledge Country of Publication: England NLM ID: 9511374 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1465-3656 (Electronic) Linking ISSN: 13554794 NLM ISO Abbreviation: Neurocase Subsets: MEDLINE

مواضيع طبية MeSH: Frontotemporal Lobar Degeneration/*genetics , Proteins/*genetics, C9orf72 Protein ; DNA Repeat Expansion ; Disease Progression ; Fluorodeoxyglucose F18 ; Follow-Up Studies ; Frontotemporal Lobar Degeneration/diagnostic imaging ; Frontotemporal Lobar Degeneration/pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Positron-Emission Tomography

المؤلفون: Kaivorinne AL; Departments of *Neurology ‡Ophthalmology, Institute of Clinical Medicine, University of Oulu †Clinical Research Center, Oulu University Hospital, Oulu, Finland §Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD ∥Department of Neurology, Institute of Clinical Medicine, University of Eastern Finland ¶Department of Neurology, Kuopio University Hospital, Kuopio, Finland., Moilanen V, Kervinen M, Renton AE, Traynor BJ, Majamaa K, Remes AM

المصدر: Alzheimer disease and associated disorders [Alzheimer Dis Assoc Disord] 2014 Apr-Jun; Vol. 28 (2), pp. 190-3.

نوع المنشور: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8704771 Publication Model: Print Cited Medium: Internet ISSN: 1546-4156 (Electronic) Linking ISSN: 08930341 NLM ISO Abbreviation: Alzheimer Dis Assoc Disord Subsets: MEDLINE

مواضيع طبية MeSH: Siblings*, DNA-Binding Proteins/*genetics , Frontotemporal Dementia/*genetics , Proteins/*genetics, Adult ; Aged ; Aged, 80 and over ; C9orf72 Protein ; Case-Control Studies ; Cohort Studies ; DNA Repeat Expansion ; Exons ; Female ; Genetic Variation ; Heterozygote ; Humans ; Male ; Middle Aged ; Sequence Analysis, DNA

المؤلفون: Kaivorinne AL; Department of Neurology, Institute of Clinical Medicine, University of Oulu, Kuopio, Finland ; Clinical Research Center, Oulu University Hospital, Kuopio, Finland., Bode MK, Paavola L, Tuominen H, Kallio M, Renton AE, Traynor BJ, Moilanen V, Remes AM

المصدر: Dementia and geriatric cognitive disorders extra [Dement Geriatr Cogn Dis Extra] 2013 Aug 20; Vol. 3 (1), pp. 251-62. Date of Electronic Publication: 2013 Aug 20 (Print Publication: 2013).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Karger Country of Publication: Switzerland NLM ID: 101564825 Publication Model: eCollection Cited Medium: Print ISSN: 1664-5464 (Print) Linking ISSN: 16645464 NLM ISO Abbreviation: Dement Geriatr Cogn Dis Extra Subsets: PubMed not MEDLINE

المؤلفون: Renton AE; Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA., Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ

مؤلفون مشاركون: ITALSGEN Consortium

المصدر: Neuron [Neuron] 2011 Oct 20; Vol. 72 (2), pp. 257-68. Date of Electronic Publication: 2011 Sep 21.

نوع المنشور: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 9* , Microsatellite Repeats*, Amyotrophic Lateral Sclerosis/*genetics , Frontotemporal Dementia/*genetics, Alleles ; Female ; Finland ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Humans ; Male ; Pedigree ; Polymorphism, Single Nucleotide

المؤلفون: Kaivorinne AL; Department of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland., Krüger J, Udd B, Majamaa K, Remes AM

المصدر: European journal of neurology [Eur J Neurol] 2010 Nov; Vol. 17 (11), pp. 1393-5.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Endosomal Sorting Complexes Required for Transport/*genetics , Frontotemporal Lobar Degeneration/*etiology , Frontotemporal Lobar Degeneration/*genetics , Mutation/*genetics , Nerve Tissue Proteins/*genetics, Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; DNA Mutational Analysis/methods ; Female ; Finland ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic/genetics

المؤلفون: Krüger J; Department of Neurology, University of Oulu, Oulu, Finland., Kaivorinne AL, Udd B, Majamaa K, Remes AM

المصدر: European journal of neurology [Eur J Neurol] 2009 Jan; Vol. 16 (1), pp. 27-30. Date of Electronic Publication: 2008 Nov 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Frontotemporal Lobar Degeneration/*epidemiology , Frontotemporal Lobar Degeneration/*genetics , Intercellular Signaling Peptides and Proteins/*deficiency , Intercellular Signaling Peptides and Proteins/*genetics, Adult ; Aged ; Cohort Studies ; Comorbidity ; Female ; Finland/epidemiology ; Frontotemporal Lobar Degeneration/metabolism ; Genetic Predisposition to Disease/epidemiology ; Genetic Predisposition to Disease/genetics ; Genetic Variation ; Humans ; Male ; Middle Aged ; Motor Neuron Disease/epidemiology ; Motor Neuron Disease/genetics ; Motor Neuron Disease/metabolism ; Point Mutation/genetics ; Prevalence ; Progranulins

المؤلفون: Kaivorinne AL; Department of Neurology, University of Oulu, Oulu, Finland. annalott@mail.student.oulu.fi, Krüger J, Kuivaniemi K, Tuominen H, Moilanen V, Majamaa K, Remes AM

المصدر: BMC neurology [BMC Neurol] 2008 Dec 17; Vol. 8, pp. 48. Date of Electronic Publication: 2008 Dec 17.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Alzheimer Disease/*genetics , Dementia/*genetics , tau Proteins/*genetics, Adult ; Aged ; Alzheimer Disease/epidemiology ; Apolipoprotein E4/genetics ; Apolipoprotein E4/metabolism ; Cross-Sectional Studies ; Dementia/epidemiology ; Female ; Finland/epidemiology ; Gene Frequency ; Genetic Predisposition to Disease ; Haplotypes ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; tau Proteins/metabolism