Search Results - Warby, S C

Selective degeneration in YAC mouse models of Huntington disease by Van Raamsdonk, Jeremy M, Warby, Simon C, Hayden, Michael R

“…Abstract Huntington disease (HD) is one of at least nine polyglutamine disorders caused by a CAG expansion in the coding region of a disease-causing gene…”
Get full text

Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study by Gottlieb, D J, Hek, K, Chen, T-h, Watson, N F, Eiriksdottir, G, Byrne, E M, Cornelis, M, Warby, S C, Bandinelli, S, Cherkas, L, Evans, D S, Grabe, H J, Lahti, J, Li, M, Lehtimäki, T, Lumley, T, Marciante, K D, Pérusse, L, Psaty, B M, Robbins, J, Tranah, G J, Vink, J M, Wilk, J B, Stafford, J M, Bellis, C, Biffar, R, Bouchard, C, Cade, B, Curhan, G C, Eriksson, J G, Ewert, R, Ferrucci, L, Fülöp, T, Gehrman, P R, Goodloe, R, Harris, T B, Heath, A C, Hernandez, D, Hofman, A, Hottenga, J-J, Hunter, D J, Jensen, M K, Johnson, A D, Kähönen, M, Kao, L, Kraft, P, Larkin, E K, Lauderdale, D S, Luik, A I, Medici, M, Montgomery, G W, Palotie, A, Patel, S R, Pistis, G, Porcu, E, Quaye, L, Raitakari, O, Redline, S, Rimm, E B, Rotter, J I, Smith, A V, Spector, T D, Teumer, A, Uitterlinden, A G, Vohl, M-C, Widen, E, Willemsen, G, Young, T, Zhang, X, Liu, Y, Blangero, J, Boomsma, D I, Gudnason, V, Hu, F, Mangino, M, Martin, N G, O'Connor, G T, Stone, K L, Tanaka, T, Viikari, J, Gharib, S A, Punjabi, N M, Räikkönen, K, Völzke, H, Mignot, E, Tiemeier, H

“…Usual sleep duration is a heritable trait correlated with psychiatric morbidity, cardiometabolic disease and mortality, although little is known about the…”
Get full text

0120 Emulating Human Sleep Spindle Scoring by Lacourse, K, Delfrate, J, Beaudry, J, Warby, S C

“…Abstract Introduction Sleep spindles are a marker of stage 2 NREM sleep, have been linked to the process of learning & memory, and are altered by many…”
Get full text

Phosphorylation of huntingtin reduces the accumulation of its nuclear fragments by Warby, Simon C., Doty, Crystal N., Graham, Rona K., Shively, Jonathan, Singaraja, Roshni R., Hayden, Michael R.

“…Huntingtin is phosphorylated on serine-421 (S421) by the pro-survival signaling protein kinases Akt and SGK. Phosphorylation of huntingtin at S421 is variable…”
Get full text

A sleep spindle detection algorithm that emulates human expert spindle scoring by Lacourse, Karine, Delfrate, Jacques, Beaudry, Julien, Peppard, Paul, Warby, Simon C.

“…•The A7 (‘algorithm #7’) detector uses 4 parameters to identify spindles that are visible in the original EEG.•A7 emulates human spindles scoring by maximizing…”
Get full text

Sleep loss and structural plasticity by Areal, Cassandra C, Warby, Simon C, Mongrain, Valérie

“…Highlights • Acute sleep loss modifies synaptic structure in a region-dependent manner. • Sleep loss mostly reduces dendritic spine number in the mammalian…”
Get full text

Massive online data annotation, crowdsourcing to generate high quality sleep spindle annotations from EEG data by Lacourse, Karine, Yetton, Ben, Mednick, Sara, Warby, Simon C.

“…Spindle event detection is a key component in analyzing human sleep. However, detection of these oscillatory patterns by experts is time consuming and costly…”
Get full text

A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease by Bečanović, Kristina, Nørremølle, Anne, Neal, Scott J, Kay, Chris, Collins, Jennifer A, Arenillas, David, Lilja, Tobias, Gaudenzi, Giulia, Manoharan, Shiana, Doty, Crystal N, Beck, Jessalyn, Lahiri, Nayana, Portales-Casamar, Elodie, Warby, Simon C, Connolly, Colúm, De Souza, Rebecca A G, Tabrizi, Sarah J, Hermanson, Ola, Langbehn, Douglas R, Hayden, Michael R, Wasserman, Wyeth W, Leavitt, Blair R

“…Huntington disease (HD) is an incurable neurodegenerative disease. A SNP in the huntingtin promoter impaired NF-κB binding and acted as a bidirectional…”
Get full text

Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1 by Cheung, Joseph, Ruoff, Chad, Moore, Hyatt, Hagerman, Katharine A, Perez, Jennifer, Sakamuri, Sarada, Warby, Simon C, Mignot, Emmanuel, Day, John, Sampson, Jacinda

“…Myotonic dystrophy type 1 (DM1) is a multisystemic disorder that involves the central nervous system (CNS). Individuals with DM1 commonly present with sleep…”
Get full text

Editorial: Sleep Spindles: Breaking the Methodological Wall by O'Reilly, Christian, Warby, Simon C, Nielsen, Tore

“…[...]this research topic was launched as a forum for proposing better practices in the study of sleep spindles and to provide new insights on spindle…”
Get full text

Resisting sleep deprivation by breaking the link between sleep and circadian rhythms by Warby, Simon C, Mongrain, Valérie

Get full text

Determinants of cortical synchrony by Mongrain, Valérie, Warby, Simon C

Get full text

Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives by Badenas, C, To-Figueras, J, Phillips, JD, Warby, CA, Muñoz, C, Herrero, C

“…Porphyria cutanea tarda (PCT) arises from decreased hepatic activity of uroporphyrinogen decarboxylase (UROD). Both genetic and environmental factors interplay…”
Get full text

Sleep-spindle detection: crowdsourcing and evaluating performance of experts, non-experts and automated methods by Warby, Simon C, Wendt, Sabrina L, Welinder, Peter, Munk, Emil G S, Carrillo, Oscar, Sorensen, Helge B D, Jennum, Poul, Peppard, Paul E, Perona, Pietro, Mignot, Emmanuel

“…A comparative analysis of methods for scoring human sleep data, in particular sleep spindles, from encephalographic recordings is reported. The authors develop…”
Get full text

Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo by Warby, Simon C., Chan, Edmond Y., Metzler, Martina, Gan, Lu, Singaraja, Roshni R., Crocker, Susan F., Robertson, Harold A., Hayden, Michael R.

“…Huntington disease (HD) results from polyglutamine expansion in the huntingtin protein (htt). Despite the widespread tissue expression pattern of htt, neuronal…”
Get full text

Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases by Warby, C A, Phillips, J D, Bergonia, H A, Whitby, F G, Hill, C P, Kushner, J P

“…Porphyria cutanea tarda (PCT) is caused by inhibition of uroporphyrinogen decarboxylase (URO-D) activity in hepatocytes. Subnormal URO-D activity results in…”
Get full text

Early Indications of Soil Recovery from Acidic Deposition in U.S. Red Spruce Forests by Lawrence, Gregory B, Shortle, Walter C, David, Mark B, Smith, Kevin T, Warby, Richard A, Lapenis, Andrei G

“…) at the New York site. Total C concentrations in Oa horizons decreased (P < 0.05) at sites…”
Get full text

Response to Falush: A Role for cis-Element Polymorphisms in HD by Warby, Simon C., Visscher, Henk, Butland, Stefanie, Pearson, Christopher E., Hayden, Michael R.

Get full text

Nocturnal Intermittent Hypoxia Is Independently Associated with Pain in Subjects Suffering from Sleep-disordered Breathing by DOUFAS, Anthony G, LU TIAN, DAVIES, Margaret Frances, WARBY, Simon C

“…On the basis of experimental and clinical evidence, the authors hypothesized that nocturnal hypoxemia would be associated with pain reports in subjects…”
Get full text

A prickly cause of progressive myoclonic epilepsy by Warby, S

“…A homozygous mutation in human PRICKLE1 causes an autosomal‐recessive Progressive Myoclonus Epilepsy‐Ataxia Syndrome
Bassuk et al. (2008)
American Journal of…”
Get full text