المؤلفون: Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carrol, Christopher J.

المساهمون: HUS Lasten ja nuorten sairaudet, Clinicum, Lastenneurologian yksikkö

مصطلحات موضوعية: Mitochondria, Neurodevelopmental disease, Ogdh, Oxoglutarate dehydrogenase, A-ketoglutarate dehydrogenase, Deficiency, Genetiikka, kehitysbiologia, fysiologia

وصف الملف: application/pdf

العلاقة: Whittle , E F , Chilian , M , Karimiani , E G , Progri , H , Buhas , D , Kose , M , Ganetzky , R D , Toosi , M B , Torbati , P N , Badv , R S , Shelihan , I , Yang , H , Elloumi , H Z , Lee , S , Jamshidi , Y , Pittman , A M , Houlden , H , Ignatius , E , Rahman , S , Maroofian , R , Yoon , W H & Carrol , C J 2023 , ' Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities ' , Genetics In medicine , Vuosikerta. 25 , Nro 2 , 100332 . https://doi.org/10.1016/j.gim.2022.11.001Test; http://hdl.handle.net/10138/356336Test; ee26e507-83ca-4305-9c21-d7f7cff84990; 000932994700001

الإتاحة: http://hdl.handle.net/10138/356336Test

المؤلفون: Pérez-Sisqués, Leticia, Bhatt, Shail U., Matuleviciute, Rugile, Gileadi, Talia E., Kramar, Eniko, Graham, Andrew, Garcia, Franklin G., Keiser, Ashley, Matheos, Dina P., Cain, James A., Pittman, Alan M., Andreae, Laura C., Fernandes, Cathy, Wood, Marcelo A., Giese, K. Peter, Basson, M. Albert

المصدر: Journal of Neuroscience; 5/8/2024, Vol. 44 Issue 19, p1-16, 16p

مصطلحات موضوعية: LONG-term memory, HISTONE demethylases, INTELLECTUAL disabilities, GENE expression, COGNITIVE ability, AGENESIS of corpus callosum, RECESSIVE genes

المؤلفون: Whittle, Ella F, Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D, Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M, Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Mitochondria, Neurodevelopmental disease, OGDH, Oxoglutarate dehydrogenase, α-ketoglutarate dehydrogenase deficiency

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10162085/1/1-s2.0-S1098360022010000-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10162085Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10162085/1/1-s2.0-S1098360022010000-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10162085Test/

المؤلفون: Bugiardini, Enrico, Nunes, Andreia M, Oliveira-Santos, Ariany, Dagda, Marisela, Fontelonga, Tatiana M, Barraza-Flores, Pamela, Pittman, Alan M, Morrow, Jasper M, Parton, Matthew, Houlden, Henry, Elliott, Perry M, Syrris, Petros, Maas, Roderick P, Akhtar, Mohammed M, Küsters, Benno, Raaphorst, Joost, Schouten, Meyke, Kamsteeg, Erik-Jan, van Engelen, Baziel, Hanna, Michael G, Phadke, Rahul, Lopes, Luis R, Matthews, Emma, Burkin, Dean J

المصدر: Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease , Article e026494. (2022) (In press).

مصطلحات موضوعية: Cardiomyopathy, congenital muscular dystrophy, congenital myopathy, integrin α7

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10161319/1/JAHA.122.026494.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10161319Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10161319/1/JAHA.122.026494.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10161319Test/

المؤلفون: Hall, Charlotte L., Akhtar, Mohammed M., Sabater-Molina, Maria, Futema, Marta, Asimaki, Angeliki, Protonotarios, Alexandros, Dalageorgou, Chrysoula, Pittman, Alan M., Suarez, Mari Paz, Aguilera, Beatriz, Molina Aguilar, Pilar, Zorio Grima, Esther, Hernández, Juan Pedro, Pastor, Francisco, Gimeno, Juan R., Syrris, Petros, McKenna, William J.

مصطلحات موضوعية: Patologia, Cor

وصف الملف: application/pdf

العلاقة: International Journal of Cardiology, 2020; Hall, Charlotte L. Akhtar, Mohammed M. Sabater-Molina, Maria Futema, Marta Asimaki, Angeliki Protonotarios, Alexandros Dalageorgou, Chrysoula Pittman, Alan M. Suarez, Mari Paz Aguilera, Beatriz Molina Aguilar, Pilar Zorio Grima, Esther Hernández, Juan Pedro Pastor, Francisco Gimeno, Juan R. Syrris, Petros McKenna, William J. 2020 Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype International Journal of Cardiology; https://hdl.handle.net/10550/78750Test; 145249

الإتاحة: https://hdl.handle.net/10550/78750Test

المؤلفون: Lopes, Luis R., Murphy, David, Bugiardini, Enrico, Salem, Reem, Jager, Joanna, Futema, Marta, Majid Akhtar, Mohammed, Savvatis, Konstantinos, Woodward, Cathy, Pittman, Alan M., Hanna, Michael G., Syrris, Petros, Pitceathly, Robert D.S., Elliott, Perry M.

المصدر: Circulation: Genomic and Precision Medicine ; volume 14, issue 3 ; ISSN 2574-8300

الإتاحة: https://doi.org/10.1161/circgen.121.003388Test

المؤلفون: Tomlinson, Ian PM, Carvajal-Carmona, Luis G, Dobbins, Sara E, Tenesa, Albert, Jones, Angela M, Howarth, Kimberley, Palles, Claire, Broderick, Peter, Jaeger, Emma EM, Farrington, Susan, Lewis, Annabelle, Prendergast, James GD, Pittman, Alan M, Theodoratou, Evropi, Olver, Bianca, Walker, Marion, Penegar, Steven, Barclay, Ella, Whiffin, Nicola, Martin, Lynn, Ballereau, Stephane, Lloyd, Amy, Gorman, Maggie, Lubbe, Steven, COGENT Consortium, CORGI Collaborators, EPICOLON Consortium, Howie, Bryan, Marchini, Jonathan, Ruiz-Ponte, Clara, Fernandez-Rozadilla, Ceres, Castells, Antoni, Carracedo, Angel, Castellvi-Bel, Sergi, Duggan, David, Conti, David, Cazier, Jean-Baptiste, Campbell, Harry, Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G, Montgomery, Grant W, Young, Joanne, Baird, Paul N, Gallinger, Steven, Newcomb, Polly, Hopper, John, Jenkins, Mark A, Aaltonen, Lauri A, Kerr, David J, Cheadle, Jeremy, Pharoah, Paul, Casey, Graham, Houlston, Richard S, Dunlop, Malcolm G

المصدر: PLoS genetics. 7(6)

مصطلحات موضوعية: COGENT Consortium, CORGI Collaborators, EPICOLON Consortium, Humans, Colorectal Neoplasms, Genetic Predisposition to Disease, Intercellular Signaling Peptides and Proteins, Case-Control Studies, Signal Transduction, Gene Frequency, Quantitative Trait, Heritable, Polymorphism, Single Nucleotide, Aged, Middle Aged, Male, Genetic Variation, Genome-Wide Association Study, Bone Morphogenetic Protein 2, Bone Morphogenetic Protein 4, Polymorphism, Single Nucleotide, Quantitative Trait, Heritable, Genetics, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8hg5z5bpTest

المؤلفون: Hall, Charlotte L., Akhtar, Mohammed M., Sabater-Molina, Maria, Futema, Marta, Asimaki, Angeliki, Protonotarios, Alexandros, Dalageorgou, Chrysoula, Pittman, Alan M., Suarez, Mari Paz, Aguilera, Beatriz, Molina, Pilar, Zorio, Esther, Hernández, Juan Pedro, Pastor, Francisco, Gimeno, Juan R., Syrris, Petros, McKenna, William J.

المساهمون: European Regional Development Fund, Instituto de Salud Carlos III, Fondation Leducq

المصدر: International Journal of Cardiology ; volume 307, page 101-108 ; ISSN 0167-5273

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.1016/j.ijcard.2019.09.048Test
https://api.elsevier.com/content/article/PII:S0167527319330190?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0167527319330190?httpAccept=text/plainTest

المؤلفون: Houlston, Richard S, Cheadle, Jeremy, Dobbins, Sara E, Tenesa, Albert, Jones, Angela M, Howarth, Kimberley, Spain, Sarah L, Broderick, Peter, Domingo, Enric, Farrington, Susan, Prendergast, James GD, Pittman, Alan M, Theodoratou, Evi, Smith, Christopher G, Olver, Bianca, Walther, Axel, Barnetson, Rebecca A, Churchman, Michael, Jaeger, Emma EM, Penegar, Steven, Barclay, Ella, Martin, Lynn, Gorman, Maggie, Mager, Rachel, Johnstone, Elaine, Midgley, Rachel, Niittymäki, Iina, Tuupanen, Sari, Colley, James, Idziaszczyk, Shelley, Thomas, Huw JW, Lucassen, Anneke M, Evans, D Gareth R, Maher, Eamonn R, Maughan, Timothy, Dimas, Antigone, Dermitzakis, Emmanouil, Cazier, Jean-Baptiste, Aaltonen, Lauri A, Pharoah, Paul, Kerr, David J, Carvajal-Carmona, Luis G, Campbell, Harry, Dunlop, Malcolm G, Tomlinson, Ian PM

المصدر: Nature Genetics. 42(11)

مصطلحات موضوعية: Prevention, Cancer, Genetics, Colo-Rectal Cancer, Human Genome, Digestive Diseases, Chromosome Mapping, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 3, Colorectal Neoplasms, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Meta-Analysis as Topic, Odds Ratio, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Risk Assessment, COGENT Consortium, CORGI Consortium, COIN Collaborative Group, COINB Collaborative Group, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7r09g9scTest

المؤلفون: Tan, Manuela M.X., Malek, Naveed, Lawton, Michael A., Hubbard, Leon, Pittman, Alan M., Joseph, Theresita, Hehir, Jason, Swallow, Diane M.A., Grosset, Katherine A., Marrinan, Sarah L., Bajaj, Nin, Barker, Roger A., Burn, David J., Bresner, Catherine, Foltynie, Thomas, Hardy, John, Wood, Nicholas, Ben-Shlomo, Yoav, Grosset, Donald G., Williams, Nigel M., Morris, Huw R.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/124435/7/awz191.pdfTest; Tan, Manuela M.X., Malek, Naveed, Lawton, Michael A., Hubbard, Leon, Pittman, Alan M., Joseph, Theresita, Hehir, Jason, Swallow, Diane M.A., Grosset, Katherine A., Marrinan, Sarah L., Bajaj, Nin, Barker, Roger A., Burn, David J., Bresner, Catherine https://orca.cardiff.ac.uk/view/cardiffauthors/A1516431.htmlTest, Foltynie, Thomas, Hardy, John, Wood, Nicholas, Ben-Shlomo, Yoav, Grosset, Donald G., Williams, Nigel M. https://orca.cardiff.ac.uk/view/cardiffauthors/A0001924.htmlTest orcid:0000-0003-1177-6931 orcid:0000-0003-1177-6931 and Morris, Huw R. 2019. Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study. Brain 142 (9) , pp. 2828-2844. 10.1093/brain/awz191 https://doi.org/10.1093/brain%2Fawz191Test file https://orca.cardiff.ac.uk/id/eprint/124435/7/awz191.pdfTest

الإتاحة: https://doi.org/10.1093/brain/awz191Test
https://orca.cardiff.ac.uk/id/eprint/124435Test/
https://orca.cardiff.ac.uk/id/eprint/124435/7/awz191.pdfTest