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RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.
Published in:
2019
By:
- Chen, Han-Jou;
- Topp, Simon D;
- Hui, Ho Sang;
- Zacco, Elsa;
- Katarya, Malvika;
- McLoughlin, Conor;
- King, Andrew;
- Smith, Bradley N;
- Troakes, Claire;
- Pastore, Annalisa;
- Shaw, Christopher E
Publication type:
journal article
Chemistry of surface water, precipitation, throughfall, leaves, sediment, soil, and air near a gold mining region in Peru.
Published in:
Ecology, 2022, v. 103, n. 5, p. 1, doi. 10.1002/ecy.3666
By:
- Gerson, Jacqueline R.;
- Szponar, Natalie;
- Agostini, Arianna;
- Alotaibi, Rand;
- Bergquist, Bridget;
- Chen, Arabella;
- Fernandez, Luis E.;
- Lansdale, Kelsey N.;
- Lee, Anne H.;
- Machicao, Maria F.;
- Marchese, Melissa J.;
- Topp, Simon N.;
- Vega, Claudia;
- Bernhardt, Emily S.
Publication type:
Article
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34620-y
By:
- Opie-Martin, Sarah;
- Iacoangeli, Alfredo;
- Topp, Simon D.;
- Abel, Olubunmi;
- Mayl, Keith;
- Mehta, Puja R.;
- Shatunov, Aleksey;
- Fogh, Isabella;
- Bowles, Harry;
- Limbachiya, Naomi;
- Spargo, Thomas P.;
- Al-Khleifat, Ahmad;
- Williams, Kelly L.;
- Jockel-Balsarotti, Jennifer;
- Bali, Taha;
- Self, Wade;
- Henden, Lyndal;
- Nicholson, Garth A.;
- Ticozzi, Nicola;
- McKenna-Yasek, Diane
Publication type:
Article
New methods for researching accessory proteins.
Published in:
Journal of Molecular Neuroscience, 2005, v. 26, n. 2/3, p. 265, doi. 10.1385/JMN:26:2-3:265
By:
- Foord, Steven;
- Topp, Simon;
- Abramo, Marco;
- Holbrook, Joanna
Publication type:
Article
Retention of hexanucleotide repeatcontaining intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.
Published in:
Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0289-4
By:
- Niblock, Michael;
- Smith, Bradley N.;
- Lee, Youn-Bok;
- Sardone, Valentina;
- Topp, Simon;
- Troakes, Claire;
- Al-Sarraj, Safa;
- Leblond, Claire S.;
- Dion, Patrick A.;
- Rouleau, Guy A.;
- Shaw, Christopher E.;
- Gallo, Jean-Marc
Publication type:
Article
Watershed‐Scale Effective Hydraulic Properties of the Continental United States.
Published in:
Journal of Advances in Modeling Earth Systems, 2021, v. 13, n. 6, p. 1, doi. 10.1029/2020MS002440
By:
- Tashie, Arik;
- Pavelsky, Tamlin;
- Band, Lawrence;
- Topp, Simon
Publication type:
Article
N-Acetylaspartate Distribution in Rat Brain Striatum During Acute Brain Ischemia.
Published in:
Journal of Cerebral Blood Flow & Metabolism, 1999, v. 19, n. 2, p. 164, doi. 10.1097/00004647-199902000-00008
By:
- Sager, Thomas Nikolaj;
- Laursen, Henning;
- Fink-Jensen, Anders;
- Topp, Simon;
- Stensgaard, Anders;
- Hedehus, Maj;
- Rosenbaum, Sverre;
- Valsborg, Jacob Stenmann;
- Hansen, Anker Jon
Publication type:
Article
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.
Published in:
NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00370-z
By:
- Roshandel, Delnaz;
- Sanders, Eric J.;
- Shakeshaft, Amy;
- Panjwani, Naim;
- Lin, Fan;
- Collingwood, Amber;
- Hall, Anna;
- Keenan, Katherine;
- Deneubourg, Celine;
- Mirabella, Filippo;
- Topp, Simon;
- Zarubova, Jana;
- Thomas, Rhys H.;
- Talvik, Inga;
- Syvertsen, Marte;
- Striano, Pasquale;
- Smith, Anna B.;
- Selmer, Kaja K.;
- Rubboli, Guido;
- Orsini, Alessandro
Publication type:
Article
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00267-9
By:
- Al Khleifat, Ahmad;
- Iacoangeli, Alfredo;
- van Vugt, Joke J. F. A.;
- Bowles, Harry;
- Moisse, Matthieu;
- Zwamborn, Ramona A. J.;
- van der Spek, Rick A. A.;
- Shatunov, Aleksey;
- Cooper-Knock, Johnathan;
- Topp, Simon;
- Byrne, Ross;
- Gellera, Cinzia;
- López, Victoria;
- Jones, Ashley R.;
- Opie-Martin, Sarah;
- Vural, Atay;
- Campos, Yolanda;
- van Rheenen, Wouter;
- Kenna, Brendan;
- Van Eijk, Kristel R.
Publication type:
Article
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 1, p. 102, doi. 10.1038/ejhg.2012.98
By:
- Smith, Bradley N;
- Newhouse, Stephen;
- Shatunov, Aleksey;
- Vance, Caroline;
- Topp, Simon;
- Johnson, Lauren;
- Miller, Jack;
- Lee, Younbok;
- Troakes, Claire;
- Scott, Kirsten M;
- Jones, Ashley;
- Gray, Ian;
- Wright, Jamie;
- Hortobágyi, Tibor;
- Al-Sarraj, Safa;
- Rogelj, Boris;
- Powell, John;
- Lupton, Michelle;
- Lovestone, Simon;
- Sapp, Peter C
Publication type:
Article
Global cerebral blood flow and metabolism during acute hyperketonemia in the awake and anesthetized rat.
Published in:
2006
By:
- Linde, Rasmus;
- Hasselbalch, Steen G;
- Topp, Simon;
- Paulson, Olaf B;
- Madsen, Peter L
Publication type:
Correction Notice
Global cerebral blood flow and metabolism during acute hyperketonemia in the awake and anesthetized rat.
Published in:
Journal of Cerebral Blood Flow & Metabolism, 2006, v. 26, n. 2, p. 170, doi. 10.1038/sj.jcbfm.9600177
By:
- Linde, Rasmus;
- Hasselbalch, Steen G.;
- Topp, Simon;
- Paulson, Olaf B.;
- Madsen, Peter L.
Publication type:
Article
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Published in:
JAMA Neurology, 2021, v. 78, n. 10, p. 1236, doi. 10.1001/jamaneurol.2021.2598
By:
- Johnson, Janel O.;
- Chia, Ruth;
- Miller, Danny E.;
- Li, Rachel;
- Kumaran, Ravindran;
- Abramzon, Yevgeniya;
- Alahmady, Nada;
- Renton, Alan E.;
- Topp, Simon D.;
- Gibbs, J. Raphael;
- Cookson, Mark R.;
- Sabir, Marya S.;
- Dalgard, Clifton L.;
- Troakes, Claire;
- Jones, Ashley R.;
- Shatunov, Aleksey;
- Iacoangeli, Alfredo;
- Al Khleifat, Ahmad;
- Ticozzi, Nicola;
- Silani, Vincenzo
Publication type:
Article
A High-Resolution Airborne Color-Infrared Camera Water Mask for the NASA ABoVE Campaign.
Published in:
Remote Sensing, 2019, v. 11, n. 18, p. 2163, doi. 10.3390/rs11182163
By:
- Kyzivat, Ethan D.;
- Smith, Laurence C.;
- Pitcher, Lincoln H.;
- Fayne, Jessica V.;
- Cooley, Sarah W.;
- Cooper, Matthew G.;
- Topp, Simon N.;
- Langhorst, Theodore;
- Harlan, Merritt E.;
- Horvat, Christopher;
- Gleason, Colin J.;
- Pavelsky, Tamlin M.
Publication type:
Article
Deep learning of estuary salinity dynamics is physically accurate at a fraction of hydrodynamic model computational cost.
Published in:
Limnology & Oceanography, 2024, v. 69, n. 5, p. 1070, doi. 10.1002/lno.12549
By:
- Gorski, Galen;
- Cook, Salme;
- Snyder, Amelia;
- Appling, Alison P.;
- Thompson, Theodore;
- Smith, Jared D.;
- Warner, John C.;
- Topp, Simon N.
Publication type:
Article
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 5, p. 995, doi. 10.1111/epi.16508
By:
- Tang, Shan;
- Addis, Laura;
- Smith, Anna;
- Topp, Simon D.;
- Pendziwiat, Manuela;
- Mei, Davide;
- Parker, Alasdair;
- Agrawal, Shakti;
- Hughes, Elaine;
- Lascelles, Karine;
- Williams, Ruth E.;
- Fallon, Penny;
- Robinson, Robert;
- Cross, Helen J.;
- Hedderly, Tammy;
- Eltze, Christin;
- Kerr, Tim;
- Desurkar, Archana;
- Hussain, Nahin;
- Kinali, Maria
Publication type:
Article
The Color of Earth's Lakes.
Published in:
Geophysical Research Letters, 2022, v. 49, n. 18, p. 1, doi. 10.1029/2022GL098925
By:
- Yang, Xiao;
- O'Reilly, Catherine M.;
- Gardner, John R.;
- Ross, Matthew R. V.;
- Topp, Simon N.;
- Wang, Jida;
- Pavelsky, Tamlin M.
Publication type:
Article
The Color of Rivers.
Published in:
Geophysical Research Letters, 2021, v. 48, n. 1, p. 1, doi. 10.1029/2020GL088946
By:
- Gardner, John R.;
- Yang, Xiao;
- Topp, Simon N.;
- Ross, Matthew R. V.;
- Altenau, Elizabeth H.;
- Pavelsky, Tamlin M.
Publication type:
Article
National-scale remotely sensed lake trophic state from 1984 through 2020.
Published in:
Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-02921-0
By:
- Meyer, Michael F.;
- Topp, Simon N.;
- King, Tyler V.;
- Ladwig, Robert;
- Pilla, Rachel M.;
- Dugan, Hilary A.;
- Eggleston, Jack R.;
- Hampton, Stephanie E.;
- Leech, Dina M.;
- Oleksy, Isabella A.;
- Ross, Jesse C.;
- Ross, Matthew R. V.;
- Woolway, R. Iestyn;
- Yang, Xiao;
- Brousil, Matthew R.;
- Fickas, Kate C.;
- Padowski, Julie C.;
- Pollard, Amina I.;
- Ren, Jianning;
- Zwart, Jacob A.
Publication type:
Article
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Published in:
Nature Communications, 2016, v. 7, n. 4, p. 11253, doi. 10.1038/ncomms11253
By:
- Williams, Kelly L.;
- Topp, Simon;
- Yang, Shu;
- Smith, Bradley;
- Fifita, Jennifer A.;
- Warraich, Sadaf T.;
- Zhang, Katharine Y.;
- Farrawell, Natalie;
- Vance, Caroline;
- Hu, Xun;
- Chesi, Alessandra;
- Leblond, Claire S.;
- Lee, Albert;
- Rayner, Stephanie L.;
- Sundaramoorthy, Vinod;
- Dobson-Stone, Carol;
- Molloy, Mark P.;
- van Blitterswijk, Marka;
- Dickson, Dennis W.;
- Petersen, Ronald C.
Publication type:
Article
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Published in:
Science Translational Medicine, 2017, v. 9, n. 388, p. 1, doi. 10.1126/scitranslmed.aad9157
By:
- Smith, Bradley N.;
- Topp, Simon D.;
- Fallini, Claudia;
- Hideki Shibata;
- Han-Jou Chen;
- Troakes, Claire;
- King, Andrew;
- Ticozzi, Nicola;
- Kenna, Kevin P.;
- Soragia-Gkazi, Athina;
- Miller, Jack W.;
- Akane Sato;
- Dias, Diana Marques;
- Jeon, Maryangel;
- Vance, Caroline;
- Chun Hao Wong;
- de Majo, Martina;
- Kattuah, Wejdan;
- Mitchell, Jacqueline C.;
- Scotter, Emma L.
Publication type:
Article
Monitoring Variations in Lake Water Storage with Satellite Imagery and Citizen Science.
Published in:
Water (20734441), 2021, v. 13, n. 7, p. 949, doi. 10.3390/w13070949
By:
- Little, Sarina;
- Pavelsky, Tamlin M.;
- Hossain, Faisal;
- Ghafoor, Sheikh;
- Parkins, Grant M.;
- Yelton, Sarah K.;
- Rodgers, Megan;
- Yang, Xiao;
- Crétaux, Jean-François;
- Hein, Catherine;
- Ullah, Mohammad Arman;
- Lina, Debolina Halder;
- Thiede, Hanne;
- Kelly, Darren;
- Wilson, Donald;
- Topp, Simon N.;
- Wrzesiński, Dariusz;
- Sobkowiak, Leszek
Publication type:
Article
Research Trends in the Use of Remote Sensing for Inland Water Quality Science: Moving Towards Multidisciplinary Applications.
Published in:
Water (20734441), 2020, v. 12, n. 1, p. 169, doi. 10.3390/w12010169
By:
- Topp, Simon N.;
- Pavelsky, Tamlin M.;
- Jensen, Daniel;
- Simard, Marc;
- Ross, Matthew R. V.
Publication type:
Article
SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.
Published in:
Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab236
By:
- Iacoangeli, Alfredo;
- Fogh, Isabella;
- Selvackadunco, Sashika;
- Topp, Simon D.;
- Shatunov, Aleksey;
- van Rheenen, Wouter;
- Al-Khleifat, Ahmad;
- Opie-Martin, Sarah;
- Ratti, Antonia;
- Calvo, Andrea;
- Van Damme, Philip;
- Robberecht, Wim;
- Chio, Adriano;
- Dobson, Richard J.;
- Hardiman, Orla;
- Shaw, Christopher E.;
- van den Berg, Leonard H.;
- Andersen, Peter M.;
- Smith, Bradley N.;
- Silani, Vincenzo
Publication type:
Article
Daily surface temperatures for 185,549 lakes in the conterminous United States estimated using deep learning (1980–2020).
Published in:
Limnology & Oceanography Letters, 2022, v. 7, n. 4, p. 287, doi. 10.1002/lol2.10249
By:
- Willard, Jared D.;
- Read, Jordan S.;
- Topp, Simon;
- Hansen, Gretchen J. A.;
- Kumar, Vipin
Publication type:
Article
Volumetric spectroscopic imaging with spiral-based k-space trajectories.
Published in:
Magnetic Resonance in Medicine, 1998, v. 39, n. 6, p. 889, doi. 10.1002/mrm.1910390606
By:
- Adalsteinsson, Elfar;
- Irarrazabal, Pablo;
- Topp, Simon;
- Meyer, Craig;
- Macovski, Albert;
- Spielman, Daniel M.
Publication type:
Article
Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.
Published in:
Human Mutation, 2012, v. 33, n. 7, p. 1087, doi. 10.1002/humu.22075
By:
- Rubio, Justin P.;
- Topp, Simon;
- Warren, Liling;
- St. Jean, Pamela L.;
- Wegmann, Daniel;
- Kessner, Darren;
- Novembre, John;
- Shen, Judong;
- Fraser, Dana;
- Aponte, Jennifer;
- Nangle, Keith;
- Cardon, Lon R.;
- Ehm, Margaret G.;
- Chissoe, Stephanie L.;
- Whittaker, John C.;
- Nelson, Matthew R.;
- Mooser, Vincent E.
Publication type:
Article
Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Published in:
2024
By:
- Opie-Martin, Sarah;
- Iacoangeli, Alfredo;
- Topp, Simon D.;
- Abel, Olubunmi;
- Mayl, Keith;
- Mehta, Puja R.;
- Shatunov, Aleksey;
- Fogh, Isabella;
- Bowles, Harry;
- Limbachiya, Naomi;
- Spargo, Thomas P.;
- Al-Khleifat, Ahmad;
- Williams, Kelly L.;
- Jockel-Balsarotti, Jennifer;
- Bali, Taha;
- Self, Wade;
- Henden, Lyndal;
- Nicholson, Garth A.;
- Ticozzi, Nicola;
- McKenna-Yasek, Diane
Publication type:
Correction Notice
Stream Temperature Prediction in a Shifting Environment: Explaining the Influence of Deep Learning Architecture.
Published in:
Water Resources Research, 2023, v. 59, n. 4, p. 1, doi. 10.1029/2022WR033880
By:
- Topp, Simon N.;
- Barclay, Janet;
- Diaz, Jeremy;
- Sun, Alexander Y.;
- Jia, Xiaowei;
- Lu, Dan;
- Sadler, Jeffrey M.;
- Appling, Alison P.
Publication type:
Article
Shifting Patterns of Summer Lake Color Phenology in Over 26,000 US Lakes.
Published in:
Water Resources Research, 2021, v. 57, n. 5, p. 1, doi. 10.1029/2020WR029123
By:
- Topp, Simon N.;
- Pavelsky, Tamlin M.;
- Dugan, Hilary A.;
- Yang, Xiao;
- Gardner, John;
- Ross, Matthew R.V.
Publication type:
Article
AquaSat: A Data Set to Enable Remote Sensing of Water Quality for Inland Waters.
Published in:
Water Resources Research, 2019, v. 55, n. 11, p. 10012, doi. 10.1029/2019WR024883
By:
- Ross, Matthew R. V.;
- Topp, Simon N.;
- Appling, Alison P.;
- Yang, Xiao;
- Kuhn, Catherine;
- Butman, David;
- Simard, Marc;
- Pavelsky, Tamlin M.
Publication type:
Article
Deep Resequencing Unveils Genetic Architecture of ADIPOQ and Identifies a Novel Low-Frequency Variant Strongly Associated With Adiponectin Variation.
Published in:
Diabetes, 2012, v. 61, n. 5, p. 1297, doi. 10.2337/db11-0985
By:
- Warren, Liling L.;
- Li Li;
- Nelson, Matthew R.;
- Ehm, Margaret G.;
- Shen, Judong;
- Fraser, Dana J.;
- Aponte, Jennifer L.;
- Nangle, Keith L.;
- Slater, Andrew J.;
- Woollard, Peter M.;
- Hall, Matt D.;
- Topp, Simon D.;
- Xin Yuan;
- Cardon, Lon R.;
- Chissoe, Stephanie L.;
- Mooser, Vincent;
- Morris, Andrew D.;
- Palmer, Colin N. A.;
- Perry, John R.;
- Frayling, Timothy M.
Publication type:
Article

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