Search Results - "Hurles, Matt E"

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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Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures by Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patton, Michael A., Mansour, Sahar, Rich, Phillip, Qualmann, Britta, Hurles, Matt E., Kessels, Michael M., Crosby, Andrew H.

“…The proper development of neuronal circuits during neuromorphogenesis and neuronal-network formation is critically dependent on a coordinated and intricate…”
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Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice by Mohun, Timothy, Adams, David J, Baldock, Richard, Bhattacharya, Shoumo, Copp, Andrew J, Hemberger, Myriam, Houart, Corinne, Hurles, Matt E, Robertson, Elizabeth, Smith, James C, Weaver, Tom, Weninger, Wolfgang

“…International efforts to test gene function in the mouse by the systematic knockout of each gene are creating many lines in which embryonic development is…”
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A map of human genome variation from population-scale sequencing by Abecasis, Gonçalo R, Altshuler, David, Auton, Adam, Brooks, Lisa D, Durbin, Richard M, Gibbs, Richard A, Hurles, Matt E, McVean, Gil A

“…The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between…”
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