Search Results - "Dick, Katherine J."

DNA methylation and body-mass index: a genome-wide analysis by Dick, Katherine J, PhD, Nelson, Christopher P, PhD, Tsaprouni, Loukia, PhD, Sandling, Johanna K, PhD, Aïssi, Dylan, MSc, Wahl, Simone, MSc, Meduri, Eshwar, PhD, Morange, Pierre-Emmanuel, Prof, Gagnon, France, PhD, Grallert, Harald, PhD, Waldenberger, Melanie, PhD, Peters, Annette, Prof, Erdmann, Jeanette, Prof, Hengstenberg, Christian, Prof, Cambien, Francois, Prof, Goodall, Alison H, Prof, Ouwehand, Willem H, Prof, Schunkert, Heribert, Prof, Thompson, John R, Prof, Spector, Tim D, FRCP, Gieger, Christian, PhD, Trégouët, David-Alexandre, PhD, Deloukas, Panos, Prof, Samani, Nilesh J, Prof

“…Summary Background Obesity is a major health problem that is determined by interactions between lifestyle and environmental and genetic factors. Although…”
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Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy by Barwick, Katy E.S., Wright, Jane, Al-Turki, Saeed, McEntagart, Meriel M., Nair, Ajith, Chioza, Barry, Al-Memar, Ali, Modarres, Hamid, Reilly, Mary M., Dick, Katherine J., Ruggiero, Alicia M., Blakely, Randy D., Hurles, Matt E., Crosby, Andrew H.

“…The neuromuscular junction (NMJ) is a specialized synapse with a complex molecular architecture that provides for reliable transmission between the nerve…”
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Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C by Auer-Grumbach, Michaela, Olschewski, Andrea, Papi, Lea, Kremer, Hannie, McEntagart, Meriel E, Uhrig, Sabine, Fischer, Carina, Fröhlich, Eleonore, Bálint, Zoltán, Tang, Bi, Strohmaier, Heimo, Lochmüller, Hanns, Schlotter-Weigel, Beate, Senderek, Jan, Krebs, Angelika, Dick, Katherine J, Petty, Richard, Longman, Cheryl, Anderson, Neil E, Padberg, George W, Schelhaas, Helenius J, van Ravenswaaij-Arts, Conny M A, Pieber, Thomas R, Crosby, Andrew H, Guelly, Christian

“…Spinal muscular atrophies (SMA, also known as hereditary motor neuropathies) and hereditary motor and sensory neuropathies (HMSN) are clinically and…”
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Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35) by Dick, Katherine J, Eckhardt, Matthias, Paisán-Ruiz, Coro, Alshehhi, Aisha Alkhayat, Proukakis, Christos, Sibtain, Naomi A, Maier, Helena, Sharifi, Reza, Patton, Michael A, Bashir, Wafa, Koul, Roshan, Raeburn, Sandy, Gieselmann, Volkmar, Houlden, Henry, Crosby, Andrew H

“…Hereditary spastic paraplegia (HSP) describes a heterogeneous group of inherited neurodegenerative disorders in which the cardinal pathological feature is…”
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Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation by Tsaprouni, Loukia G, Yang, Tsun-Po, Bell, Jordana, Dick, Katherine J, Kanoni, Stavroula, Nisbet, James, Viñuela, Ana, Grundberg, Elin, Nelson, Christopher P, Meduri, Eshwar, Buil, Alfonso, Cambien, Francois, Hengstenberg, Christian, Erdmann, Jeanette, Schunkert, Heribert, Goodall, Alison H, Ouwehand, Willem H, Dermitzakis, Emmanouil, Spector, Tim D, Samani, Nilesh J, Deloukas, Panos

“…Smoking is a major risk factor in many diseases. Genome wide association studies have linked genes for nicotine dependence and smoking behavior to increased…”
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Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes by Dick, Katherine J, McEntagart, Meriel, Alwan, Wisam, Reilly, Mary, Crosby, Andrew H

“…Distal hereditary motor neuronopathy type seven (dHMN-VII) is an autosomal dominant condition characterized by distal muscular atrophy associated with…”
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