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1Academic Journal
المؤلفون: Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D'Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, Chiò, Adriano, On Behalf Of Italsgen Consortium, null
المساهمون: Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D'Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, Chiò, Adriano, On Behalf Of Italsgen Consortium, null
مصطلحات موضوعية: HFE, SOD1, amyotrophic lateral sclerosi, p.H63D, survival
Relation: info:eu-repo/semantics/altIdentifier/pmid/36979682; volume:11; issue:3; firstpage:704; lastpage:708; numberofpages:5; journal:BIOMEDICINES; https://hdl.handle.net/2318/1904348; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152963757; https://www.mdpi.com/2227-9059/11/3/704
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2Academic Journal
المؤلفون: Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke JFA, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, ITALSGEN Consortium, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Genomic Translation for ALS Care (GTAC) Consortium, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Goldstein, David B, ALS Sequencing Consortium, Gitler, Aaron D, Harris, Tim, Myers, Richard M, NYGC ALS Consortium, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Answer ALS Foundation, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, LeNail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, SLAGEN Consortium, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, French ALS Consortium, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W
المصدر: Neuron. 97(6)
مصطلحات موضوعية: ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium, Humans, Amyotrophic Lateral Sclerosis, Cohort Studies, Amino Acid Sequence, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Genome-Wide Association Study, Young Adult, Loss of Function Mutation, Kinesins, ALS, GWAS, KIF5A, WES, WGS, axonal transport, cargo, Brain Disorders, Genetics, Human Genome, Rare Diseases, Neurosciences, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, Psychology, Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1qm5c9x5
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3Academic Journal
المؤلفون: FALS Sequencing Consortium, Amer Genome Ctr, Int ALS Genomics Consortium, ITALSGEN Consortium, Johnson, Janel O., Chia, Ruth, Miller, Danny E., Tienari, Pentti J., Laaksovirta, Hannu, Valori, Miko, Jansson, Lilja
المساهمون: HUS Neurocenter, Department of Neurosciences, Clinicum, Neurologian yksikkö, TRIMM - Translational Immunology Research Program, Pentti Tienari / Principal Investigator
مصطلحات موضوعية: HEREDITARY SENSORY NEUROPATHY, L-SERINE, MUTATIONS, DEOXYSPHINGOLIPIDS, ACCUMULATION, Neurosciences, Biomedicine
وصف الملف: application/pdf
Relation: This work was supported in part by the Intramural Research Programs of the National Institute on Aging (grant Z01-AG000949-02) and National Institute of Neurological Disorders and Stroke (grant ZIA-NS03154). The work was also funded by the Packard Center for ALS Research at Johns Hopkins, the ALS Association (grant 20-SI-508), the Muscular Dystrophy Association, the Italian Ministry of Health (grant RF-2016-02362405), the Italian Ministry of Education, University and Research (Progetti di Ricerca di Rilevante Interesse Nazionale [PRIN]; grant 2017SNW5MB), the Joint Programme-Neurodegenerative Disease Research (JPND; Brain-Mend projects) granted by Italian Ministry of Education, University and Research, and by the European Community's Health Seventh Framework Programme (FP7/2007-2013; grant agreements 259867 and 278611), by the National Institute of Neurological Disorders and Stroke (grants R35 NS097261, R01NS073873, and R56NS073873), and by the Collaborative Health Initiative Research Program. This study was performed under the Department of Excellence grant of the Italian Ministry of Education, University and Research to the `Rita Levi Montalcini' Department of Neuroscience, University of Torino, Italy. Additional funding was also provided by the Motor Neurone Disease Association (MNDA), the Medical Research Council, the Medical Research Foundation (MRF), the Van Geest Foundation, The Psychiatry Research Trust of the Institute of Psychiatry, Guy's and St. Thomas' Charity and the Noreen Murray Foundation, the Sigrid Juselius Foundation, the UK Dementia Research Institute, the National Health and Medical Research Council of Australia (grants 1095215 and 1092023), and through the following funding organization under the aegis of JPND: UK Medical Research Council (grants MR/L501529/1 and MR/R024804/1). This work was supported by the Canadian Consortium on Neurodegeneration in Aging, UK Dementia Research Institute, which is funded by the Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. Dr Al-Chalabi is supported by the National Institute for Health Research (NIHR) Maudsley Biomedical Research Centre. Dr P. Shaw is supported as an NIHR Senior Investigator and by the Sheffield NIHR Biomedical Research Centre. Dr Dobson-Stone is supported by the Australian National Health and Medical Research Council (NHMRC) Boosting Dementia Research Leadership Fellowship 1138223 and by the University of Sydney. Dr Kwok is supported by NHMRC Dementia Research Team Grant 1095127. The Alzheimer's Disease Sequencing Project (ADSP) is comprised of 2 Alzheimer's Disease (AD) genetics consortia and 3 National Human Genome Research Institute (NHGRI)-funded Large-Scale Sequencing and Analysis Centers (LSAC). The 2 AD genetics consortia are the Alzheimer's Disease Genetics Consortium (ADGC) funded by National Institute on Aging grant U01 AG032984, and the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) funded by National Institute on Aging grant R01 AG033193, the National Heart, Lung, and Blood Institute, other National Institutes of Health institutes, and other foreign governmental and nongovernmental organizations. The Discovery Phase analysis of sequence data is supported through UF1AG047133 to Drs Schellenberg, Farrer, Pericak-Vance, Mayeux, and Haines; U01AG049505 to Dr Seshadri; U01AG049506 to Dr Boerwinkle; U01AG049507 to Dr Wijsman; and U01AG049508 to Dr Goate.; FALS Sequencing Consortium , Amer Genome Ctr , Int ALS Genomics Consortium , ITALSGEN Consortium , Johnson , J O , Chia , R , Miller , D E , Tienari , P J , Laaksovirta , H , Valori , M & Jansson , L 2021 , ' Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis ' , JAMA neurology , vol. 78 , no. 10 , pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598; ORCID: /0000-0002-2380-8999/work/130603226; http://hdl.handle.net/10138/340922; 083d022f-bebb-48a1-9d8e-694afc98ca50; 000692566100005
الاتاحة: http://hdl.handle.net/10138/340922
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4Academic Journal
المؤلفون: Saez-Atienzar, S, Bandres-Ciga, S, Langston, RG, Kim, JJ, Choi, SW, Reynolds, RH, International ALS Genomics Consortium, ITALSGEN, Abramzon, Y, Dewan, R, Ahmed, S, Landers, JE, Chia, R, Ryten, M, Cookson, MR, Nalls, MA, Chiò, A, Traynor, BJ
المصدر: Science Advances , 7 (3) , Article eabd9036. (2021)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10121626/1/eabd9036.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10121626/
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5Academic Journal
المؤلفون: Saez-Atienzar, Sara, Bandres-Ciga, Sara, Langston, Rebekah G, Kim, Jonggeol J, Choi, Shing Wan, Reynolds, Regina H, International ALS Genomics Consortium, ITALSGEN, Abramzon, Yevgeniya, Dewan, Ramita, Ahmed, Sarah, Landers, John E, Chia, Ruth, Ryten, Mina, Cookson, Mark R, Nalls, Michael A, Chiò, Adriano, Traynor, Bryan J
مصطلحات موضوعية: Amyotrophic Lateral Sclerosis, Genetic Testing, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide
وصف الملف: application/pdf
Relation: http://hdl.handle.net/10668/17080; PMC7810371; https://europepmc.org/articles/pmc7810371?pdf=render; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810371/pdf
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6Academic Journal
المؤلفون: Bandres-Ciga, Sara, Noyce, Alastair J, Hemani, Gibran, Nicolas, Aude, Calvo, Andrea, Mora, Gabriele, Tienari, Pentti J, Stone, David J, Nalls, Mike A, Singleton, Andrew B, Chiò, Adriano, Traynor, Bryan J, Pugliatti, M, The ITALSGEN Consortium, The International ALS Genomics Consortium
المساهمون: Bandres-Ciga, Sara, Noyce, Alastair J, Hemani, Gibran, Nicolas, Aude, Calvo, Andrea, Mora, Gabriele, Tienari, Pentti J, Stone, David J, Nalls, Mike A, Singleton, Andrew B, Chiò, Adriano, Traynor, Bryan J, Pugliatti, M, The ITALSGEN Consortium, The International ALS Genomics Consortium
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/30723964; info:eu-repo/semantics/altIdentifier/wos/WOS:000466415500003; volume:85; issue:4; firstpage:470; lastpage:481; numberofpages:12; journal:ANNALS OF NEUROLOGY; info:eu-repo/grantAgreement/EC/FP7/259867; https://hdl.handle.net/11392/2503592; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062936004
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7Academic Journal
المساهمون: Department of Neurosciences, Neurologian yksikkö, Clinicum, HUS Neurocenter
مصطلحات موضوعية: LD SCORE REGRESSION, MENDELIAN RANDOMIZATION, CHOLESTEROL HOMEOSTASIS, CARDIOVASCULAR-DISEASE, ALZHEIMERS-DISEASE, PROTECTIVE FACTOR, DYSLIPIDEMIA, BIAS, Neurosciences, Neurology and psychiatry
وصف الملف: application/pdf
Relation: This work was supported by the Intramural Research Program of the NIH, National Institute on Aging (Z01-AG000949-02); by the National Institute of Neurological Disorders and Stroke; and by Merck & Co., Inc. A.J. Noyce is funded by the Barts Charity (Preventive Neurology Unit). Gibran Hemani is funded by the Wellcome Trust and the Royal Society [208806/Z/17/Z]. Andrea Calvo receives research support from Fondazione Vialli e Mauro onlus. Pentti J. Tienari received funding support from Helsinki University Hospital and the Sigrid Juselius Foundation. A. Chio receives research support from the Italian Ministry of Health (Ricerca Finalizzata RF-2010-2309849 and RF-2016-02362405), the University of Turin (Ricerca locale ex 60% 2016 and 2017), and the Joint Programme Neurodegenerative Disease Research (JPND) (BRAIN-MEND project supported by Italian Ministry of University). The research leading to these results has received funding from the European Community's Health Seventh Framework Programme (FP7/2007-2013; Grant Agreement No. 259867) and support from the Target ALS Multicenter Postmortem Core and the Canadian Consortium on Neurodegeneration in Aging (ER). This study has been supported by the Italian Ministry of University under the Department of Excellence funding awarded to the 'Rita Levi Montalcini Department of Neuroscience. Bryan J. Traynor received additional support from the Center for Disease Control and Prevention, the Muscular Dystrophy Association, Microsoft Research, the Packard Center for ALS Research at Johns Hopkins, and the ALS Association.; ITALSGEN Consortium , Int ALS Genomics Consortium , Bandres-Ciga , S & Tienari , P J 2019 , ' Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis ' , Annals of Neurology , vol. 85 , no. 4 , pp. 470-481 . https://doi.org/10.1002/ana.25431; http://hdl.handle.net/10138/312662; b2859d2b-182b-4594-b7fd-3e8243680737; 000466415500003
الاتاحة: http://hdl.handle.net/10138/312662
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8Academic Journal
المؤلفون: ITALSGEN Consortium, Genomic Translation ALS Care GTAC, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Fdn, Clinical Res ALS Related Disorders, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consor
المساهمون: Department of Neurosciences, Pentti Tienari / Principal Investigator, Neurologian yksikkö, Research Programs Unit, Clinicum, Research Programme for Molecular Neurology, University of Helsinki, Medicum, Department of Pathology, HUS Neurocenter
مصطلحات موضوعية: AMYOTROPHIC-LATERAL-SCLEROSIS, KINESIN HEAVY-CHAIN, DNA-DAMAGE, AXONAL-TRANSPORT, HEXANUCLEOTIDE REPEAT, TARGETED DISRUPTION, GENOTYPE IMPUTATION, MOTOR-NEURONS, FAMILIAL ALS, MUTATIONS, Neurosciences, Neurology and psychiatry, Biomedicine
وصف الملف: application/pdf
Relation: The ALS Association (ALSA) provided funding support to Project MinE (15-LGCA-235), the NYGC ALS Consortium (15-LGCA-234), the CReATe Consortium (17-LGCA-331), the GTAC Consortium (16-LGCA-310), the Target ALS Human Postmortem Tissue Core (16-LGCA-308), and NeuroLINCS, an NIH-funded collaborative effort. P.V.D. is a senior investigator of FWO-Vlaanderen. Project MinE Belgium has been supported by ALS liga Belgie, Flanders Innovation & Enterpreneurship (IWT grant Project MinE), the Belgian National Lottery, and a grant from Opening the Future Fund (KU Leuven). W.R. is supported through the E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders and ERC (grant agreement no. 340429). Additional funding support includes NINDS R35 NS097261 (R.R.) and P01NS084974 (R.R. and K.B.B.). A.N.B. thanks the Suna and Inan Kirac Foundation, Istanbul, TR for its generous support of the Neurodegeneration Research Laboratory throughout this study. Funding for this work was provided by the Heaton-Ellis Trust, the Middlemass Family, Motor Neurone Disease Association, Medical Research Council, Medical Research Foundation, the Psychiatry Research Trust of the Institute of Psychiatry, Guy's and St Thomas' Charity, the Wellcome Trust, and the Noreen Murray Foundation (C.E.S.). This work was also supported by the UK Dementia Research Institute, which is funded by the Medical Research Council, Alzheimer's Society, and Alzheimer's Research UK (C.E.S.). The salary for B.N.S. was funded by the Medical Research Foundation (MRF) (MRF-060-0003-RG-SMITH). P.C.S. was supported through the auspices of Dr. H. Robert Horvitz (Massachusetts Institute of Technology), an Investigator of the Howard Hughes Institute. Support for this work came from the Department of Veterans Affairs and NIH (P30AG13846) to N.W.K. I.P.B. is supported by the Motor Neurone Disease Research Institute of Australia and the National Health and Medical Research Council of Australia (1107644 and 1095215). P.F. is supported by an MRC/MNDA LEWF and by NIHR UCLH BRC. Research support from NIH/NIEHS (K23ES027221), the ALS Association, Target ALS, and Cytokinetics was provided to S.A.G. M. Cudkowicz was awarded funding from ALS Finding a Cure. N.T., C. Tiloca, C.G., V.S., and J.E.L. received research support from AriSLA - Fondazione Italiana di Ricerca per la SLA (grants EXOMEFALS and NOVALS) and the Italian Ministry of Health (grant GR-2011-02347820 - IRisALS). R.L. McLaughlin was supported by Science Foundation Ireland and the MND Association of England, Wales and Northern Ireland. O.H. is funded by the Health Research Board Clinician Scientist Programme and Science Foundation Ireland. P.J.S. is supported as an NIHR Senior Investigator (NF-SI-0512-10082). P.J.S. and J. Kirby are supported by the Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (IS-BRC-1215-20017). A. Chio receives research support from the Italian Ministry of Health (Ricerca Finalizzata), Regione Piemonte (Ricerca Finalizzata), University of Turin, Fondazione Vialli e Mauro onlus, and the European Commission (Health Seventh Framework Programme). P.M.A. is supported by research grants from the Swedish Brain Foundation, the Swedish Science Council, the Knut and Alice Wallenberg Foundation, the Bertil Hallsten Foundation, the Ulla-Carin Lindquist Foundation, the Neuroforbundet Association, the Torsten and Ragnar Soderberg Foundation, the Stratneuro Initiative, and Vasterbotten County Council. R.B. received funding support from NINDS/NS061867 and Target ALS. R.H.B.J.; ITALSGEN Consortium , Genomic Translation ALS Care GTAC , ALS Sequencing Consortium , NYGC ALS Consortium , Answer ALS Fdn , Clinical Res ALS Related Disorders , SLAGEN Consortium , French ALS Consortium & Project MinE ALS Sequencing Consor 2018 , ' Genome-wide Analyses Identify KIF5A as a Novel ALS Gene ' , Neuron , vol. 97 , no. 6 , pp. 1268-+ . https://doi.org/10.1016/j.neuron.2018.02.027; ORCID: /0000-0002-2237-5466/work/123137824; ORCID: /0000-0002-2380-8999/work/130603214; http://hdl.handle.net/10138/301252; 5d09f943-72dd-45fa-a563-099dfe727ecb; 85044172835; 000428235400013
الاتاحة: http://hdl.handle.net/10138/301252
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9Academic Journal
المؤلفون: Stopford, Matthew J, Higginbottom, Adrian, Hautbergue, Guillaume M, Cooper-Knock, Johnathan, Mulcahy, Padraig J, De Vos, Kurt J, Renton, Alan E, Pliner, Hannah, Calvo, Andrea, Chio, Adriano, Traynor, Bryan J, Azzouz, Mimoun, Heath, Paul R, ITALSGEN Consortium, Giannini, Fabio, Battistini, Stefania, NeuroX Consortium, Kirby, Janine, Shaw, Pamela J
المساهمون: Stopford, Matthew J, Higginbottom, Adrian, Hautbergue, Guillaume M, Cooper-Knock, Johnathan, Mulcahy, Padraig J, De Vos, Kurt J, Renton, Alan E, Pliner, Hannah, Calvo, Andrea, Chio, Adriano, Traynor, Bryan J, Azzouz, Mimoun, Heath, Paul R, Italsgen, Consortium, Giannini, Fabio, Battistini, Stefania, Neurox, Consortium, Kirby, Janine, Shaw, Pamela J
مصطلحات موضوعية: Amyotrophic Lateral Sclerosi, C9orf72 Protein, Cell Line, Cell Survival, DNA Repeat Expansion, Frontotemporal Dementia, Gene Expression Regulation, Gene Knockdown Technique, Human, Motor Neuron, PTEN Phosphohydrolase, Phosphatidylinositol 3-Kinase, Protein, Proto-Oncogene Proteins c-akt, RNA
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/28158451; info:eu-repo/semantics/altIdentifier/wos/WOS:000400911000009; volume:26; issue:6; firstpage:1133; lastpage:1145; numberofpages:13; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11365/1130384; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85019141971; https://academic.oup.com/hmg/article/26/6/1133/2965927; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409131/
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10Academic Journal
المؤلفون: Chiò, A, Borghero, G, Restagno, G, Mora, G, Drepper, C, Traynor, BJ, Sendtner, M, Brunetti, M, Ossola, I, Calvo, A, Pugliatti, M, Sotgiu, MA, Murru, MR, Marrosu, G, Marrosu, F, Marinou, K, Mandrioli, JMR, Sola, P, Caponnetto, C, Mancardi, G, Mandich, P, Conte, A, Monsurrò, MR, Tedeschi, G, Pisano, F, Bartolomei, I, Salvi, F, Lauria, GP, Simone, I, Logroscino, G, Gambardella, A, Quattrone, A, Lunetta, C, Volanti, P, Zollino, M, Penco, S, Battistini, S, the ITALSGEN, consortium, Renton, AE, Majounie, E, Abramzon, Y, Conforti, FL, Giannini, F, Corbo, M, Sabatelli, M., LA BELLA, Vincenzo, SPATARO, Rossella
المساهمون: Chiò, A., Borghero, G., Restagno, G., Mora, G., Drepper, C., Traynor, B., Sendtner, M., Brunetti, M., Ossola, I., Calvo, A., Pugliatti, M., Sotgiu, M., Murru, M., Marrosu, G., Marrosu, F., Marinou, K., Mandrioli, J., Sola, P., Caponnetto, C., Mancardi, G., Mandich, P., LA BELLA, V., Spataro, R., Conte, A., Monsurrò, M., Tedeschi, G., Pisano, F., Bartolomei, I., Salvi, F., Lauria, G., Simone, I., Logroscino, G., Gambardella, A., Quattrone, A., Lunetta, C., Volanti, P., Zollino, M., Penco, S., Battistini, S., the ITALSGEN, C., Renton, A., Majounie, E., Abramzon, Y., Conforti, F., Giannini, F., Corbo, M., Sabatelli, M.
مصطلحات موضوعية: amyotrophic lateral sclerosi, familial al, C9Orf72, phenotype-genotype correlation, Settore BIO/18 - Genetica, Settore MED/26 - Neurologia
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000300738300011; volume:135; issue:135; firstpage:784; lastpage:793; numberofpages:10; journal:BRAIN; http://hdl.handle.net/10447/64567
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11Academic Journal
المؤلفون: Sabatelli, M, Conforti, FL, Zollino, M, Mora, G, Monsurrò, MR, Volanti, P, Marinou, K, Salvi, F, Corbo, M, Giannini, F, Battistini, S, Penco, S, Lunetta, C, Quattrone, A, Gambardella, A, Logroscino, G, Simone, I, Bartolomei, I, Pisano, F, Tedeschi, G, Conte, A, Spataro, R, Caponnetto, C, Mancardi, G, Mandich, P, Sola, P, Mandrioli, J, Renton, AE, Majounie, E, Abramzon, Y, Marrosu, F, Marrosu, MG, Murru, MR, Sotgiu, MA, Pugliatti, M, Rodolico, C, ITALSGEN Consortium, Moglia, C, Calvo, A, Ossola, I, Brunetti, M, Traynor, BJ, Borghero, G, Restagno, G, Chiò, A., LA BELLA, Vincenzo
المساهمون: Sabatelli, M., Conforti, F., Zollino, M., Mora, G., Monsurrò, M., Volanti, P., Marinou, K., Salvi, F., Corbo, M., Giannini, F., Battistini, S., Penco, S., Lunetta, C., Quattrone, A., Gambardella, A., Logroscino, G., Simone, I., Bartolomei, I., Pisano, F., Tedeschi, G., Conte, A., Spataro, R., LA BELLA, V., Caponnetto, C., Mancardi, G., Mandich, P., Sola, P., Mandrioli, J., Renton, A., Majounie, E., Abramzon, Y., Marrosu, F., Marrosu, M., Murru, M., Sotgiu, M., Pugliatti, M., Rodolico, C., Italsgen, C., Moglia, C., Calvo, A., Ossola, I., Brunetti, M., Traynor, B., Borghero, G., Restagno, G., Chiò, A.
مصطلحات موضوعية: amyotrophic lateral sclerosi, C9orf672, frontotemporal dementia, survival, Settore BIO/18 - Genetica, Settore MED/26 - Neurologia
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000306070800052; volume:33; issue:33 (8); firstpage:1848e15; lastpage:1848e20; numberofpages:6; journal:NEUROBIOLOGY OF AGING; http://hdl.handle.net/10447/64568
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12Academic Journal
المؤلفون: FALS Sequencing Consortium, American Genome Center, International ALS Genomics Consortium, and ITALSGEN Consortium
المساهمون: Neurogenetica, Neurologen, Brain, Projectafdeling ALS, Regenerative Medicine and Stem Cells
مصطلحات موضوعية: Clinical Neurology, Journal Article
وصف الملف: application/pdf
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13Academic Journal
المؤلفون: Johnson, J.O., Chia, R., Miller, D.E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A.E., Topp, S.D., Gibbs, J.R., Cookson, M.R., Sabir, M.S., Dalgard, C.L., Troakes, C., Jones, A.R., Shatunov, A., Iacoangeli, A., Khleifat, A. al, Ticozzi, N., Silani, V., Gellera, C., Blair, I.P., Dobson-Stone, C., Kwok, J.B., Bonkowski, E.S., Palvadeau, R., Tienari, P.J., Morrison, K.E., Shaw, P.J., Al-Chalabi, A., Jr, R.H.B., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I.J., Perlman, S.J., Glass, I., Scott, A.I., Shaw, C.E., Basak, A.N., Landers, J.E., Chio, A., Crawford, T.O., Smith, B.N., Traynor, B.J., FALS Sequencing Consortium, Amer Genome Ctr, Int ALS Genomics Consortium, ITALSGEN Consortium
المصدر: JAMA Neurology
وصف الملف: application/pdf
Relation: https://jamanetwork.com/journals/jamaneurology/articlepdf/2783665/jamaneurology_johnson_2021_oi_210047_1633018740.39649.pdf; lumc-id: 122387746; https://hdl.handle.net/1887/3251143
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14Academic Journal
المؤلفون: Fogh, Isabella, Ratti, Antonia, Gellera, Cinzia, Lin, Kuang, Tiloca, Cinzia, Moskvina, Valentina, Corrado, Lucia, Sorarù, Gianni, Cereda, Cristina, Corti, Stefania, Gentilini, Davide, Calini, Daniela, Castellotti, Barbara, Mazzini, Letizia, Querin, Giorgia, Gagliardi, Stella, Del Bo, Roberto, Conforti, Francesca L., Siciliano, Gabriele, Inghilleri, Maurizio, Saccà, Francesco, Bongioanni, Paolo, Penco, Silvana, Corbo, Massimo, Sorbi, Sandro, Filosto, Massimiliano, Ferlini, Alessandra, Di Blasio, Anna M., Signorini, Stefano, Shatunov, Aleksey, Jones, Ashley, Shaw, Pamela J., Morrison, Karen E., Farmer, Anne E., Van Damme, Philip, Robberecht, Wim, Chiò, Adriano, Traynor, Bryan J., Sendtner, Michael, Melki, Judith, Meininger, Vincent, Hardiman, Orla, Andersen, Peter M., Leigh, Nigel P., Glass, Jonathan D., Overste, Daniel, Diekstra, Frank P., Veldink, Jan H., van Es, Michael A., Shaw, Christopher E., Weale, Michael E., Lewis, Cathryn M., Williams, Julie, Brown, Robert H., Landers, John E., Ticozzi, Nicola, Ceroni, Mauro, Pegoraro, Elena, Comi, Giacomo P., D'Alfonso, Sandra, van den Berg, Leonard H., Taroni, Franco, Al-Chalabi, Ammar, Powell, John, Silani, Vincenzo, the SLAGEN Consortium and Collaborators, Brescia Morra, Vincenzo, Filla, Alessandro, Massimo, Filosto, Marsili, Angela, Viviana, Pensato, Puorro, Giorgia, La Bella, Vincenzo, Logroscino, Giancarlo, Monsurrò, Maria Rosaria, Quattrone, Aldo, Simone, Isabella Laura, Ahmeti, Kreshnik B., Ajroud-Driss, Senda, Armstrong, Jennifer, Birve, Anne, Blauw, Hylke M., Bruijn, Lucie, Chen, Wenjie, Comeau, Mary C., Cronin, Simon, Soraya, Gkazi Athina, Grab, Josh D., Groen, Ewout J., Haines, Jonathan L., Heller, Scott, Huang, Jie, Hung, Wu-Yen, ITALSGEN Consortium, Jaworski, James M., Khan, Humaira, Langefeld, Carl D., Marion, Miranda C., McLaughlin, Russell L., Miller, Jack W., Mora, Gabriele, Pericak-Vance, Margaret A., Rampersaud, Evadnie, Siddique, Nailah, Siddique, Teepu, Smith, Bradley N., Sufit, Robert, Topp, Simon, Vance, Caroline, van Vught, Paul, Yang, Yi, Zheng, J.G.
مصطلحات موضوعية: ASSOCIATION STUDIES ARTICLES
وصف الملف: text/html
Relation: http://hmg.oxfordjournals.org/cgi/content/short/23/8/2220; http://dx.doi.org/10.1093/hmg/ddt587
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15
المؤلفون: Saez-Atienzar, Sara, dos Santos Souza, Cleide, Chia, Ruth, Beal, Selina N., Lorenzini, Ileana, Huang, Ruili, Levy, Jennifer, Burciu, Camelia, Ding, Jinhui, Gibbs, J. Raphael, Jones, Ashley, Dewan, Ramita, Pensato, Viviana, Peverelli, Silvia, Corrado, Lucia, van Vugt, Joke J.F.A., van Rheenen, Wouter, Tunca, Ceren, Bayraktar, Elif, Xia, Menghang, Genomics Consortium, The International ALS, Consortium, ITALSGEN, Consortium, SLAGEN, Iacoangeli, Alfredo, Shatunov, Aleksey, Tiloca, Cinzia, Ticozzi, Nicola, Verde, Federico, Mazzini, Letizia, Kenna, Kevin P., Al Khleifat, Ahmad, Opie-Martin, Sarah, Raggi, Flavia, Filosto, Massimiliano, Piccinelli, Stefano Cotti, Padovani, Alessandro, Gagliardi, Stella, Inghilleri, Maurizio, Ferlini, Alessandra, Vasta, Rosario, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Manera, Umberto, Grassano, Maurzio, Mandrioli, Jessica, Mora, Gabriele, Lunetta, Christian, Tanel, Raffaella, Trojsi, Francesca
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16
المؤلفون: Mina Ryten, Italsgen, Yevgeniya Abramzon, Sara Saez-Atienzar, Mark R. Cookson, Ramita Dewan, Mike A. Nalls, Sarah Ahmed, Rebekah G. Langston, Regina H. Reynolds, Adriano Chiò, Jonggeol J. Kim, Shing Wan Choi, Sara Bandres-Ciga, John Landers, Bryan J. Traynor, Ruth Chia
مصطلحات موضوعية: Biological pathway, Cell type, Neuron projection morphogenesis, Mendelian randomization, medicine, Disease, Signal transduction, Biology, Amyotrophic lateral sclerosis, medicine.disease, Neuroscience, Genetic analysis
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17Electronic Resource
المؤلفون: Neurogenetica, Neurologen, Brain, Projectafdeling ALS, Regenerative Medicine and Stem Cells, FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium
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18Academic Journal
المؤلفون: Bandres-Ciga S, Noyce AJ, Hemani G, Nicolas A, Calvo A, Mora G, ITALSGEN Consortium, International ALS Genomics Consortium, Tienari PJ, Stone DJ, Nalls MA, Singleton AB, Chiò A. Traynor BJ, Arosio A, Barberis M, Bartolomei I, Battistini S, Benigni M, Borghero G, Brunetti M, Cammarosano S, Cannas A, Canosa A, Capasso M, Caponnetto C, Caredda C, Carrera P, Casale F, Cavallaro S, Chiò A, Colletti T, Conforti FL, Conte A, Corrado L, Costantino E, D'Alfonso S, Fasano A, Femiano C, Ferrarese C, Fini N, Floris G, Fuda G, Giannini F, Grassano M, Ilardi A, La Bella V, Lattante S, Logroscino G, Logullo FO, Loi D, Lunetta C, Mancardi G, Mandich P, Mandrioli J, Manera U, Marangi G, Marinou K, Marrali G, Marrosu MG, Mazzini L, Melis M, Messina S, Moglia C, Monsurro MR, Mosca L, Occhineri P, Origone P, Pani C, Penco S, Petrucci A, Piccirillo G, Pirisi A, Pisano F, Pugliatti M, Restagno G, Ricci C, Rita Murru M, Riva N, Sabatelli M, Salvi F, Santarelli M, Sideri R, Simone I, Spataro R, Tanel R, Tedeschi G
المساهمون: Bandres-Ciga, S, Noyce, Aj, Hemani, G, Nicolas, A, Calvo, A, Mora, G, Italsgen, Consortium, International ALS Genomics, Consortium, Tienari, Pj, Stone, Dj, Nalls, Ma, Singleton, Ab, Chiò A., Traynor BJ, Arosio, A, Barberis, M, Bartolomei, I, Battistini, S, Benigni, M, Borghero, G, Brunetti, M, Cammarosano, S, Cannas, A, Canosa, A, Capasso, M, Caponnetto, C, Caredda, C, Carrera, P, Casale, F, Cavallaro, S, Chiò, A, Colletti, T, Conforti, Fl, Conte, A, Corrado, L, Costantino, E, D'Alfonso, S, Fasano, A, Femiano, C, Ferrarese, C, Fini, N, Floris, G, Fuda, G, Giannini, F, Grassano, M, Ilardi, A, La Bella, V, Lattante, S, Logroscino, G, Logullo, Fo, Loi, D, Lunetta, C, Mancardi, G, Mandich, P, Mandrioli, J, Manera, U, Marangi, G, Marinou, K, Marrali, G, Marrosu, Mg, Mazzini, L, Melis, M, Messina, S, Moglia, C, Monsurro, Mr, Mosca, L, Occhineri, P, Origone, P, Pani, C, Penco, S, Petrucci, A, Piccirillo, G, Pirisi, A, Pisano, F, Pugliatti, M, Restagno, G, Ricci, C, Rita Murru, M, Riva, N, Sabatelli, M, Salvi, F, Santarelli, M, Sideri, R, Simone, I, Spataro, R, Tanel, R, Tedeschi, G
مصطلحات موضوعية: ALS, polygenic risk, demo, hisphilso
Relation: http://hdl.handle.net/11586/230591
الاتاحة: http://hdl.handle.net/11586/230591
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19Conference
المؤلفون: Chiò A, Calvo A, Mora G, Brunetti M, Barberis M, Borghero G, Caponnetto C, Monsurrò MR, La Bella V, Volanti P, Simone I, Salvi F, Logullo F, Nilo R, Tremolizzo L, Giannini F, Mandrioli J, Tanel R, Murru MR, Mandich P, Conforti FL, ITALSGEN consortium, SARDINIALS consortium, Zollino M, Lattante S, Sabatelli M, Tarlarini C, Penco S, Russo M, Messina S, Lunetta C, Meininger V, Clavelou P, Camu W
المساهمون: Chiò, A, Calvo, A, Mora, G, Brunetti, M, Barberis, M, Borghero, G, Caponnetto, C, Monsurrò, Mr, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F, Nilo, R, Tremolizzo, L, Giannini, F, Mandrioli, J, Tanel, R, Murru, Mr, Mandich, P, Conforti, Fl, Italsgen, Consortium, Sardinials, Consortium, Zollino, M, Lattante, S, Sabatelli, M, Tarlarini, C, Penco, S, Russo, M, Messina, S, Lunetta, C, Meininger, V, Clavelou, P, Camu, W
Relation: ispartofbook:XLVII CONGRESS OF THE ITALIAN NEUROLOGICAL SOCIETY; volume:37; issue:supplemento; firstpage:S452; lastpage:S453; http://hdl.handle.net/11380/1237901
الاتاحة: http://hdl.handle.net/11380/1237901
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20Academic Journal
المساهمون: Department of Neurosciences, Neurologian yksikkö, Clinicum, HUS Neurocenter
مصطلحات موضوعية: LD SCORE REGRESSION, MENDELIAN RANDOMIZATION, CHOLESTEROL HOMEOSTASIS, CARDIOVASCULAR-DISEASE, ALZHEIMERS-DISEASE, PROTECTIVE FACTOR, DYSLIPIDEMIA, BIAS, 3112 Neurosciences, 3124 Neurology and psychiatry, demo, hisphilso
Relation: http://hdl.handle.net/10138/312662
الاتاحة: http://hdl.handle.net/10138/312662
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