A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

Authors: Bedoyan, Jirair K., Hecht, Leah, Zhang, Shulin, Tarrant, Stacey, Bergin, Ann, Demirbas, Didem, Yang, Edward, Shin, Ha Kyung, Grahame, George J., DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Berry, Gerard T.

Source: JIMD reports. 48(1):26-35

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084349206.0x000001&indx=1&recIds=ETOCvdc_100084349206.0x000001

Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency

Authors: Shin, Ha Kyung, Grahame, George, McCandless, Shawn E., Kerr, Douglas S., Bedoyan, Jirair K.

Source: In Molecular Genetics and Metabolism November 2017 122(3):61-66

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

Authors: Bedoyan, Jirair K., Yang, Samuel P., Ferdinandusse, Sacha, Jack, Rhona M., Miron, Alexander, Grahame, George, DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Wanders, Ronald J.A.

Source: In Molecular Genetics and Metabolism April 2017 120(4):342-349

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion

Authors: Huang, Xiaoping, Bedoyan, Jirair K., Demirbas, Didem, Harris, David J., Miron, Alexander, Edelheit, Simone, Grahame, George, DeBrosse, Suzanne D., Wong, Lee-Jun, Hoppel, Charles L., Kerr, Douglas S., Anselm, Irina, Berry, Gerard T.

Source: In Molecular Genetics and Metabolism March 2017 120(3):213-222

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Authors: Adams, David R., Yuan, Hongjie, Holyoak, Todd, Arajs, Katrina H., Hakimi, Parvin, Markello, Thomas C., Wolfe, Lynne A., Vilboux, Thierry, Burton, Barbara K., Fajardo, Karin Fuentes, Grahame, George, Holloman, Conisha, Sincan, Murat, Smith, Ann C.M., Wells, Gordon A., Huang, Yan, Vega, Hugo, Snyder, James P., Golas, Gretchen A., Tifft, Cynthia J., Boerkoel, Cornelius F., Hanson, Richard W., Traynelis, Stephen F., Kerr, Douglas S., Gahl, William A.

Source: In Molecular Genetics and Metabolism November 2014 113(3):161-170

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

Authors: DeBrosse, Suzanne D., Okajima, Kazuki, Zhang, Shulin, Nakouzi, Ghunwa, Schmotzer, Christine L., Lusk-Kopp, Marilyn, Frohnapfel, Mary Beth, Grahame, George, Kerr, Douglas S.

Source: In Molecular Genetics and Metabolism November 2012 107(3):394-402

Novel presentations associated with a PDHA1 variant – Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother

Authors: Sen, Kuntal, Grahame, George, Bedoyan, Jirair K., Gropman, Andrea L.

Source: In European Journal of Paediatric Neurology March 2021 31:27-30

Day with the dervishes.

Authors: GRAHAME, George

Source: Living Age; April 1 1899, Vol. 221, p35-42, 8p

The city of Auckland, New Zealand, 1840-1920

Authors: Barr, John, b. 1887., Grahame, George.

Access URL: http://hdl.handle.net/2027/uc1.$b304943

Availability: http://hdl.handle.net/2027/mdp.39015058531974

Claude Lorrain, painter & etcher

Authors: Grahame, George.

Access URL: http://hdl.handle.net/2027/yale.39002004687951

Availability: http://hdl.handle.net/2027/njp.32101066451574

Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity.

Authors: Kerr, Douglas, Grahame, George, Nakouzi, Ghunwa

Source: Mitochondrial Disorders; 2012, p93-119, 27p

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

Authors: Deeb, Kristin K., Bedoyan, Jirair K., Wang, Raymond, Sremba, Leighann, Schroeder, Molly C., Grahame, George J., Boyer, Monica, McCandless, Shawn E., Kerr, Douglas S., Zhang, Shulin

Source: In Molecular Genetics and Metabolism Reports 2014 1:362-367

Claude Lorrain.

Alternate Title: Review

Authors: GRAHAME, George

Source: The Spectator; April 20 1895, Vol. 74, p537-537, 1p

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Dons boss deciding the future of others.

Authors: EWING GRAHAME; GEORGE GRANT

Source: Daily Mail. 2/ 9/2013, p114. 1p.

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