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2012, Network for Ecosystem Sustainability and Health publication series, ISBN 9781894784528, Volume no. 3
"The Watersheds as Settings for Health and Well-Being Project explored connections between watershed governance and human health in five watershed... 
Environmental Health | Watersheds | Watershed management | Environmental aspects | Water Supply | Conservation of Natural Resources | Health aspects
Web Resource
Journal Article
Annals of Neurology, ISSN 0364-5134, 2014, Volume 76, Issue 1, pp. 120 - 133
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0007-1161, 03/2006, Volume 90, Issue 3, p. 268
Aim: To describe the characteristics of babies treated for severe retinopathy of prematurity (ROP) in a tertiary referral unit in China, to provide information... 
Journal Article
ACTA NEUROPATHOLOGICA COMMUNICATIONS, ISSN 2051-5960, 07/2019, Volume 7, Issue 1, pp. 115 - 115
The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known cause of ALS accounting for 40% familial cases and 7% sporadic cases in the... 
SUSCEPTIBILITY | ALS | Repeat expansion | AMYOTROPHIC-LATERAL-SCLEROSIS | LOCUS | NEUROSCIENCES | DEGENERATION | FEATURES | Next-generation sequencing | REPLICATION | GENE | Whole-genome sequencing | Genetics | HEXANUCLEOTIDE REPEAT | C9orf72 | GENOME-WIDE ASSOCIATION
Journal Article
by Nalls, Mike A and Pankratz, Nathan and Lill, Christina M and Do, Chuong B and Hernandez, Dena G and Saad, Mohamad and DeStefano, Anita L and Kara, Eleanna and Bras, Jose and Sharma, Manu and Schulte, Claudia and Keller, Margaux F and Arepalli, Sampath and Letson, Christopher and Edsall, Connor and Stefansson, Hreinn and Liu, Xinmin and Pliner, Hannah and Lee, Joseph H and Cheng, Rong and Ikram, M. Arfan and Ioannidis, John P. A and Hadjigeorgiou, Georgios M and Bis, Joshua C and Martinez, Maria and Perlmutter, Joel S and Goate, Alison and Marder, Karen and Fiske, Brian and Sutherland, Margaret and Xiromerisiou, Georgia and Myers, Richard H and Clark, Lorraine N and Stefansson, Kari and Hardy, John A and Heutink, Peter and Chen, Honglei and Wood, Nicholas W and Houlden, Henry and Payami, Haydeh and Brice, Alexis and Scott, William K and Gasser, Thomas and Bertram, Lars and Eriksson, Nicholas and Foroud, Tatiana and Singleton, Anew B and Plagnol, Vincent and Sheerin, Una-Marie and Simón-Sánchez, Javier and Lesage, Suzanne and Sveinbjörnsdóttir, Sigurlaug and Barker, Roger and Ben-Shlomo, Yoav and Berendse, Henk W and Berg, Daniela and Bhatia, Kailash and de Bie, Rob M. A and Biffi, Alessano and Bloem, Bas and Bochdanovits, Zoltan and Bonin, Michael and Bras, Jose M and Brockmann, Kathrin and Brooks, Janet and Burn, David J and Charlesworth, Gavin and Chinnery, Patrick F and Chong, Sean and Clarke, Carl E and Cookson, Mark R and Cooper, J. Mark and Corvol, Jean Christophe and Counsell, Carl and Damier, Philippe and Dartigues, Jean-François and Deloukas, Panos and Deuschl, Günther and Dexter, David T and van Dijk, Karin D and Dillman, Allissa and Durif, Frank and Dürr, Alexana and Edkins, Sarah and Evans, Jonathan R and Foltynie, Thomas and Dong, Jing and Gardner, Michelle and Gibbs, J. Raphael and Gray, Emma and Guerreiro, Rita and Harris, Clare and van Hilten, Jacobus J and Hofman, Albert and Hollenbeck, Albert and Holton, Janice and Hu, Michele and Huang, Xuemei and Wurster, Isabel and Mätzler, Walter and ... and GenePD and IPDG and Ashkenazi Jewish Dataset Investiga and 23AndMe and NABEC and HIHG and Greek Parkinson's Dis Consortium and GParkinson's Study Grp PSG Parkins and NGRC and Alzheimer Genetic Analysis Gr and CHARGE and UKBEC and Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI) and Hussman Institute of Human Genomics (HIHG) and 23andMe and Greek Parkinson's Disease Consortium and International Parkinson's Disease Genomics Consortium (IPDGC) and Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE) and United Kingdom Brain Expression Consortium (UKBEC) and NeuroGenetics Research Consortium (NGRC) and Ashkenazi Jewish Dataset Investigator and North American Brain Expression Consortium (NABEC) and Alzheimer Genetic Analysis Group and The Ashkenazi Jewish Dataset Investigator
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 9, pp. 989 - +
Journal Article
Expert Reviews in Molecular Medicine, ISSN 1462-3994, 05/2006, Volume 8, Issue 11, pp. 1 - 22
Journal Article
by Majounie, Elisa, PhD and Renton, Alan E, PhD and Mok, Kin, MSc and Dopper, Elise GP and Waite, Adrian, PhD and Rollinson, Sara, PhD and Chiò, Adriano, MD and Restagno, Gabriella, MD and Nicolaou, Nayia, MSc and Simon-Sanchez, Javier, PhD and van Swieten, John C, Prof and Abramzon, Yevgeniya and Johnson, Janel O, PhD and Sendtner, Michael, Prof and Pamphlett, Roger, MD and Orrell, Richard W, MD and Mead, Simon, MD and Sidle, Katie C, MD and Houlden, Henry, Prof and Rohrer, Jonathan D, MD and Morrison, Karen E, Prof and Pall, Hardev, MD and Talbot, Kevin, Prof and Ansorge, Olaf, MD and Hernandez, Dena G, MSc and Arepalli, Sampath, MS and Sabatelli, Mario, MD and Mora, Gabriele, MD and Corbo, Massimo, MD and Giannini, Fabio, MD and Calvo, Andrea, MD and Englund, Elisabet, MD and Borghero, Giuseppe, MD and Floris, Gian Luca, MD and Remes, Anne M, Prof and Laaksovirta, Hannu, MD and McCluskey, Leo, MD and Trojanowski, John Q, Prof and Van Deerlin, Vivianna M, MD and Schellenberg, Gerard D, Prof and Nalls, Michael A, PhD and Drory, Vivian E, MD and Lu, Chin-Song, Prof and Yeh, Tu-Hsueh, MD and Ishiura, Hiroyuki, MD and Takahashi, Yuji, MD and Tsuji, Shoji, Prof and Le Ber, Isabelle, MD and Brice, Alexis, Prof and Drepper, Carsten, PhD and Williams, Nigel, PhD and Kirby, Janine, PhD and Shaw, Pamela, Prof and Hardy, John, Prof and Tienari, Pentti J, MD and Heutink, Peter, Prof and Morris, Huw R, MD and Pickering-Brown, Stuart, Prof and Traynor, Bryan J, Dr and Chromosome 9-ALS FTD Consortium and French Res Network FTLD FTLD ALS and ITALSGEN Consortium and French research network on FTLD/FTLD/ALS and Chromosome 9-ALS/FTD Consortium and Oncology and Pathology, Kamprad Lab and Lund University and Lunds universitet and Onkologi och Patologi, Kampradlab
Lancet Neurology, The, ISSN 1474-4422, 2012, Volume 11, Issue 4, pp. 323 - 330
Summary Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large... 
Neurology | PREVALENCE | MUTATIONS | LOBAR DEGENERATION | GENETICS | TDP-43 | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Child, Preschool | Genotype | Male | Genetic Loci | Open Reading Frames - genetics | Young Adult | Chromosomes, Human, Pair 9 - genetics | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies | Medical research | Medical colleges | Care and treatment | Nervous system diseases | Neurosciences | Molecular genetics | Oncology, Experimental | Questions and answers | Amyotrophic lateral sclerosis | Research | Medicine, Experimental | Agriculture | Physicians (General practice) | Alzheimer's disease | Dementia | Cancer | Biomedical engineering | Index Medicus | Haplotypes | Polymerase chain reaction | Neurodegenerative diseases | Ethnic groups | Data processing | Mutation | Frontotemporal dementia | Genetic counselling | Islands | Age | Toll-Like Receptor 4 | Open Reading Frames | Adaptor Proteins, Vesicular Transport | Lipopolysaccharides | Life Sciences | DNA Repeat Expansion | Interferon Regulatory Factor-3 | Transfection | Amyotrophic Lateral Sclerosis | RNA Interference | HEK293 Cells | Membrane Glycoproteins | Vesicular Transport Proteins | Protein Structure, Tertiary | Cell Line | Chemokine CCL5 | Frontotemporal Dementia | Signal Transduction | Myeloid Differentiation Factor 88 | Chromosomes, Human, Pair 9 | Protein Transport | Adaptor Proteins, Signal Transducing | Santé publique et épidémiologie | RNA, Small Interfering | Endosomes | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN 2167-8421, 04/2019, Volume 20, Issue 3-4, pp. 229 - 234
Background: Amyotrophic lateral sclerosis is a neurodegenerative disease of motor neurons resulting in progressive paralysis and death, typically within 3-5... 
whole genome sequencing | structural variants | next-generation sequencing | telomere | bioinformatics | ALS | variant calling | LIMITATIONS | IN-SITU HYBRIDIZATION | AMYOTROPHIC-LATERAL-SCLEROSIS | CANCER | HERITABILITY | CLINICAL NEUROLOGY | ELONGATION | BIOLOGY | GENES | GENDER | ASSOCIATION
Journal Article