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1. Full Text A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
by Renton, Alan E and Majounie, Elisa and Waite, Adrian and Simón-Sánchez, Javier and Rollinson, Sara and Gibbs, J. Raphael and Schymick, Jennifer C and Laaksovirta, Hannu and van Swieten, John C and Myllykangas, Liisa and Kalimo, Hannu and Paetau, Anders and Abramzon, Yevgeniya and Remes, Anne M and Kaganovich, Alice and Scholz, Sonja W and Duckworth, Jamie and Ding, Jinhui and Harmer, Daniel W and Hernandez, Dena G and Johnson, Janel O and Mok, Kin and Ryten, Mina and Trabzuni, Danyah and Guerreiro, Rita J and Orrell, Richard W and Neal, James and Murray, Alex and Pearson, Justin and Jansen, Iris E and Sondervan, David and Seelaar, Harro and Blake, Derek and Young, Kate and Halliwell, Nicola and Callister, Janis Bennion and Toulson, Greg and Richardson, Anna and Gerhard, Alex and Snowden, Julie and Mann, David and Neary, David and Nalls, Michael A and Peuralinna, Terhi and Jansson, Lilja and Isoviita, Veli-Matti and Kaivorinne, Anna-Lotta and Hölttä-Vuori, Maarit and Ikonen, Elina and Sulkava, Raimo and Benatar, Michael and Wuu, Joanne and Chiò, Adriano and Restagno, Gabriella and Borghero, Giuseppe and Sabatelli, Mario and Heckerman, David and Rogaeva, Ekaterina and Zinman, Lorne and Rothstein, Jeffrey D and Sendtner, Michael and Drepper, Carsten and Eichler, Evan E and Alkan, Can and Abdullaev, Ziedulla and Pack, Svetlana D and Dutra, Amalia and Pak, Evgenia and Hardy, John and Singleton, Andrew and Williams, Nigel M and Heutink, Peter and Pickering-Brown, Stuart and Morris, Huw R and Tienari, Pentti J and Traynor, Bryan J and The ITALSGEN Consortium and ITALSGEN Consortium
Neuron (Cambridge, Mass.), ISSN 0896-6273, 10/2011, Volume 72, Issue 2, pp. 257 - 268
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Frontotemporal Dementia - genetics | Haplotypes | Genetic Predisposition to Disease | Amyotrophic Lateral Sclerosis - genetics | Humans | Genotype | Male | Chromosomes, Human, Pair 9 | Pedigree | Alleles | Finland | Female | Polymorphism, Single Nucleotide | Microsatellite Repeats | Medical colleges | Molecular genetics | Neurons | Genes | Oncology, Experimental | Amyotrophic lateral sclerosis | Research | Gene expression | Genetic research | Cytogenetics | Genetic aspects | Alzheimer's disease | Public health | Cancer | Index Medicus
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2. Full Text Common genetic variants influence human subcortical brain structures
by Hibar, Derrek and Stein, J.L and Rentería, Miguel and Arias-Vásquez, Alejano and Desrivières, Sylvane and Jahanshad, Neda and Toro, Roberto and Wittfeld, Katharina and Abramovic, Lucija and Andersson, Micael and Aribisala, Benjamin and Armstrong, Nicola J and Bernard, Manon and Bohlken, Marc M and Boks, Marco and Bralten, Linda and Brown, Anew and Chakravarty, M. Mallar and Chen, Qiang and Ching, Christopher and Cuellar-Partida, Gabriel and Braber, Anouk and Giddaluru, Sudheer and Goldman, Aaron L and Grimm, Oliver and Guadalupe, Tulio and Hass, Johanna and Woldehawariat, Girma and Holmes, Avram and Hoogman, Martine and Janowitz, Deborah and Jia, Tianye and Kim, Shinseog and Klein, Marieke and Kraemer, Bernd and Lee, Phil H and Olde Loohuis, Loes M and Luciano, Michelle and MacAre, Christine and Mather, R and Mattheisen, Manuel and Milaneschi, Yuri and Nho, Kwangsik and Papmeyer, Martina and Ramasamy, Adaikalavan and Risacher, Shannon and Roiz-Santiañez, Roberto and Rose, Emma and Salami, Alireza and Sämann, Philipp and Schmaal, Lianne and Schork, Nicholas and Shin, Jean and Strike, Lachlan and Teumer, Alexander and Van Donkelaar, Marjolein M. J and Eijk, Kristel and Walters, Raymond and Westlye, Lars and Whelan, Christopher and Winkler, Anderson and Zwiers, Marcel and Alhusaini, Saud and Athanasiu, Lavinia and Ehrlich, Stefan and Hakobjan, Marina and Hartberg, Cecilie B and Haukvik, Unn and Heister, Angelien J. G. A. M and Hoehn, David and Kasperaviciute, Dalia and Liewald, David C and Lopez, Lorna and Makkinje, Remco R. R and Matarin, Mar and Naber, Marlies A. M and McKay, Reese and Needham, Margaret and Nugent, Allison and Pütz, Benno and Royle, Natalie and Shen, Li and Sprooten, Roy and Trabzuni, Danyah and Van Der Marel, Saskia S. L and Van Hulzen, Kimm J. E and Walton, Esther and Björnsson, Asgeir and Almasy, Laura and Ames, David and Arepalli, Sampath and Assareh, A.A and Bastin, Mark and Brodaty, Henry and Bulayeva, Kazima and Carless, Melanie and Cichon, Sven and Corvin, Aiden and Curran, Joanne and Czisch, Michael and ... and EPIGEN and SYS and Alzheimers Dis Neuroimaging and CHARGE Consortium and IMAGEN and Alzheimer’s Disease Neuroimaging Initiative and The Alzheimer’s Disease Neuroimaging Initiative and The CHARGE Consortium
Nature (London), ISSN 0028-0836, 04/2015, Volume 520, Issue 7546, pp. 224 - 229
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Caudate Nucleus - anatomy & histology | Brain - anatomy & histology | Humans | Middle Aged | Genetic Loci - genetics | Gene Expression Regulation, Developmental - genetics | Apoptosis - genetics | Male | Young Adult | Putamen - anatomy & histology | Aging - genetics | Organ Size - genetics | Aged, 80 and over | Adult | Female | Child | Genome-Wide Association Study | Membrane Proteins - genetics | Sex Characteristics | Magnetic Resonance Imaging | Skull - anatomy & histology | Adolescent | Aged | Genetic Variation - genetics | Hippocampus - anatomy & histology | Genetic research | Brain | Genetic aspects | Brain research | Research | Genetic variation | Genomics | Genomes | Epigenetics | Genes | Index Medicus | Neuroscience | Cognitive science | Medicin och hälsovetenskap
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3. Full Text The transcriptional landscape of age in human peripheral blood
by Peters, Marjolein and Joehanes, Roby and Pilling, Luke and Schurmann, Claudia and Conneely, Karen N and Powell, Joseph and Reinmaa, Eva and Sutphin, George L and Zhernakova, Alexana and Schramm, Katharina and Wilson, Yana A and Kobes, Sayuko and Tukiainen, Taru and Ramos, Yolande and Göring, Harald H and Fornage, Myriam and Liu, YongMei and Gharib, Sina and Stranger, Barbara and Jager, Philip and Aviv, Abraham and Levy, Daniel and Murabito, Joanne and Munson, Peter J and Huan, Tianxiao and Hofman, Albert and Uitterlinden, Ané and Rivadeneira Ramirez, Fernando and van Rooij, Jeroen and Stolk, Lisette and Broer, Linda and Verbiest, Michael and Jhamai, Mila and Arp, Pascal and Metspalu, Anes and Tserel, Liina and Milani, Lili and Samani, Nilesh and Peterson, Pärt and Kasela, Silva and Codd, Veryan and Peters, Annette and Ward-Caviness, Cavin K and Herder, Christian and Waldenberger, Melanie and Roden, Michael and Singmann, Paula and Zeilinger, Sonja and Illig, Thomas and Homuth, Georg and Grabe, Hans Jörgen and Völzke, Henry and Steil, Leif and Kocher, Thomas and Murray, Anna and Melzer, David and Yaghootkar, Hanieh and Bandinelli, S and Moses, Eric and Kent, Jack and Curran, Joanne and Johnson, Matthew and Williams-Blangero, Sarah and Westra, Harm-Jan and McRae, Allan F and Smith, Jennifer A and Kardia, Sharon and Hovatta, Iiris and Perola, Markus and Ripatti, Samuli and Salomaa, Veikko and Henders, Anjali and Martin, Nicholas and Smith, Alicia K and Mehta, Divya and Binder, Elisabeth B and Nylocks, K. Maria and Kennedy, Elizabeth M and Klengel, Torsten and Ding, Jingzhong and Suchy-Dicey, Astrid and Enquobahrie, D and Brody, Jennifer A and Rotter, Jerome I and Chen, Yii-Der I and Houwing-Duistermaat, Jeanine and Kloppenburg, Margreet and Slagboom, Eline and Helmer, Quinta and Hollander, Wouter and Bean, Shannon and Raj, Towfique and Bakhshi, Noman and Wang, Qiao Ping and Oyston, Lisa J and Psaty, Bruce and Tracy, Russell and Montgomery, Grant and Turner, Stephen and Blangero, John and ... and NABEC UKBEC Consortium and NABEC/UKBEC Consortium
Nature communications, ISSN 2041-1723, 10/2015, Volume 6, Issue 1, pp. 8570 - 8570
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Aging - blood | DNA Methylation | Humans | Transcriptome | European Continental Ancestry Group | Gene Expression Profiling | Biomarkers - blood | Index Medicus
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4. Full Text Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
by Jansen, Iris and Ye, H and Heetveld, S and Lechler, M.C and Michels, H and Seinstra, R.I and Lubbe, S.J and uet, V and Lesage, Suzanne and Majounie, Elisa and Gibbs, J.R and Nalls, Michael and Ryten, Mina and Botia, J.A and Vanovcova, Jana and Simón-Sánchez, Javier and Castillo-Lizardo, M and Rizzu, Patrizia and Blauwenaat, C and Chouhan, A.K and Li, Y and Yogi, P and Amin, Najaf and Duijn, Cornelia and Morris, H.R and Brice, A and Singleton, Anew and David, D.C and Nollen, E.A and Jain, Ashok and Shulman, J.M and Heutink, Peter and Hernandez, Dena and Arepalli, Sampath and Brooks, Janet and Price, R and Nicolas, A and Chong, Sean and Cookson, Mark and Dillman, Allissa and Moore, Matt and Traynor, Bryan and Plagnol, Vincent and Nicholas W Wood and Sheerin, Una-Marie and Jose M Bras and Charlesworth, Kate and Gardner, Mac and Guerreiro, Rita and Trabzuni, Danyah and Hardy, J and Sharma, M and Saad, Mohamad and Javier Simón-Sánchez and Schulte, Claudia and Corvol, Jean-Christophe and Dürr, A and Vidailhet, M and Sveinbjörnsdóttir, Sigurlaug and Barker, Roger and Caroline H Williams-Gray and Ben-Shlomo, Y and Berendse, Henk W and Dijk, Karin and Berg, Daniela and Brockmann, K and Wurster, Kathrin and Mätzler, W and Gasser, T and Martinez, Maria and Bie, Rob and Biffi, Alessano and Velseboer, Daan and Bloem, Bastiaan and Post, Bart and Wickremaratchi, Mirdhu and Warrenburg, Bart and Bochdanovits, Zoltan and Bonin, Malte and Pétursson, Hjörvar and Riess, Olaf and Burn, David and Lubbe, S and Cooper, J.M and McNeill, Nathan and Schapira, A and Lungu, C and Chen, H and Dong, J and Chinnery, P.F and Hudson, Gavin and Clarke, C.E and Moorby, Catriona and Counsell, Carl and Damier, Philippe and Dartigues, J.-F and Deloukas, Panagiotis and Gray, Emma and Edkins, Ted and Hunt, S.E and ... and IPGDC and International Parkinson’s Disease Genetics Consortium (IPGDC)
Genome Biology, ISSN 1474-7596, 01/2017, Volume 18, Issue 1, pp. 22 - 22
Animal model | Functional screening | Mitochondria | Parkinson's disease | Genomics | Whole-exome sequencing | Rare variants | Loss-of-function | α-synuclein | Parkin | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Genetic Predisposition to Disease | Animals, Genetically Modified | Caenorhabditis elegans - genetics | Humans | Middle Aged | Cells, Cultured | Parkinson Disease - genetics | Drosophila melanogaster - genetics | Case-Control Studies | Exome | Young Adult | Animals | RNA Interference | Adolescent | Adult | alpha-Synuclein - genetics | High-Throughput Nucleotide Sequencing - methods | Child | Sequence Analysis, DNA - methods | Disease Models, Animal | Cell culture | Integrated approach | Neurodegenerative diseases | RNA-mediated interference | Parkinsons disease | Heredity | Genomes | Gene expression | Synuclein | Ribonucleic acid--RNA | Studies | Consortia | Neurodegeneration | Nematodes | Population | Replication | Genetics | Mutation | Bioinformatics | Age | Movement disorders | Index Medicus
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5. Full Text Activation of Apoptotic Caspase Cascade During the Transition to Pressure Overload-Induced Heart Failure
by Moorjani, Narain and Ahmad, Manzoor and Catarino, Pedro and Brittin, Robin and Trabzuni, Danyah and Al-Mohanna, Futwan and Narula, Navneet and Narula, Jagat and Westaby, Stephen
Journal of the American College of Cardiology, ISSN 0735-1097, 10/2006, Volume 48, Issue 7, pp. 1451 - 1458
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Cardiology. Vascular system | Heart | Biological and medical sciences | Medical sciences | Heart failure, cardiogenic pulmonary edema, cardiac enlargement | Hypertrophy, Left Ventricular - enzymology | Aortic Valve Stenosis - physiopathology | Male | Cardiac Output, Low - physiopathology | Disease Progression | Myocytes, Cardiac - enzymology | Animals | Caspases - metabolism | Sheep | Ventricular Pressure | DNA Damage | Hypertrophy, Left Ventricular - physiopathology | Apoptosis | Cardiac Output, Low - enzymology | Heart failure | Enzymes | Analysis | Cardiac patients | Aortic valve stenosis | DNA | Development and progression | Medical colleges | Nucleic acids | Studies | Cardiomyocytes | Laboratory animals | Adapter proteins | Autophagy | Catheters | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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6. Full Text Novel genetic loci associated with hippocampal volume
by Hibar, Derrek and Adams, Hieab and Jahanshad, Neda and Chauhan, Ganesh and Stein, J.L and Hofer, Edith and Rentería, Miguel and Bis, Joshua and Arias-Vásquez, Alejano and Ikram, M.K and Desrivières, Sylvane and Vernooij, Meike and Abramovic, Lucija and Alhusaini, Saud and Amin, Najaf and Andersson, Micael and Arfanakis, Konstantinos and Aribisala, Benjamin and Armstrong, Nicola J and Athanasiu, Lavinia and Axelsson, Tomas and Beecham, Ashley and Beiser, Alexa and Bernard, Manon and Blanton, Susan H and Bohlken, Marc M and Boks, Marco and Bralten, Linda and Brickman, Adam M and Carmichael, O and Chakravarty, M. Mallar and Chen, Qiang and Ching, Christopher and Chouraki, Vincent and Cuellar-Partida, Gabriel and Crivello, Fabrice and Braber, Anouk and Doan, N.T and Ehrlich, Stefan and Giddaluru, Sudheer and Goldman, Aaron L and Gottesman, Rebecca and Grimm, Oliver and Griswold, Michael and Guadalupe, Tulio and Gutman, B.A and Hass, Johanna and Haukvik, Unn and Hoehn, David and Holmes, Avram and Hoogman, Martine and Janowitz, Deborah and Jia, Tianye and Jørgensen, K.N and Karbalai, Nazanin and Kasperaviciute, Dalia and Kim, Shinseog and Klein, Marieke and Kraemer, Bernd and Lee, Phil and Liewald, David C and Lopez, Lorna and Luciano, Michelle and MacAre, Christine and Marquand, A.F and Matarin, Mar and Mather, R and Mattheisen, Manuel and McKay, D.R and Milaneschi, Y and Muñoz Maniega, Susana and Nho, Kwangsik and Nugent, Allison and Nyquist, Paul and Loohuis, L.M.O and Oosterlaan, Jaap and Papmeyer, Martina and Pirpamer, L and Pütz, Benno and Ramasamy, Adaikalavan and Richards, J.S and Risacher, Shannon and Roiz-Santiañez, Roberto and Rommelse, Nanda and Ropele, Stefan and Rose, Emma and Royle, Natalie and Rundek, Tatjana and Sämann, Philipp and Saremi, A and Satizabal, Claudia L and Schmaal, Lianne and Schork, Nicholas and Shen, L and Shin, Jean and Shumskaya, E and Smith, Albert Vernon and Sprooten, Roy and Strike, Lachlan and Teumer, Alexander and ...
Nature communications, ISSN 2041-1723, 01/2017, Volume 8
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7. Full Text Novel mutations underlying argininosuccinic aciduria in Saudi Arabia
by Imtiaz, Faiqa and Al-Sayed, Moeen and Trabzuni, Danyah and Al-Mubarak, Bashair R and Alsmadi, Osama and Rashed, Mohamed S and Meyer, Brian F
BMC research notes, ISSN 1756-0500, 2010, Volume 3, Issue 1, pp. 79 - 79
Usage | Gene mutations | Physiological aspects | Urea cycle | Genetic aspects | Research | Mass spectrometry
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