المؤلفون: Ruiz de Sabando, Ainara, Ciosi, Marc, Galbete, Arkaitz, Cumming, Sarah A., Spanish HD Collaborative Group, Monckton, Darren G., Ramos-Arroyo, Maria A

وصف الملف: text

العلاقة: https://eprints.gla.ac.uk/322873/1/322873.pdfTest; Ruiz de Sabando, A., Ciosi, M. , Galbete, A., Cumming, S. A. , Spanish HD Collaborative Group, , Monckton, D. G. and Ramos-Arroyo, M. A. (2024) Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. European Journal of Human Genetics , (doi:10.1038/s41431-024-01546-6 )

الإتاحة: https://doi.org/10.1038/s41431-024-01546-6Test
https://eprints.gla.ac.uk/322873Test/
https://eprints.gla.ac.uk/322873/1/322873.pdfTest

المؤلفون: Hong, Eun Pyo, Ramos, Eliana Marisa, Aziz, N. Ahmad, Massey, Thomas H., McAllister, Branduff, Lobanov, Sergey, Jones, Lesley, Holmans, Peter, Kwak, Seung, Orth, Michael, Ciosi, Marc, Lomeikaite, Vilija, Monckton, Darren G., Long, Jeffrey D., Lucente, Diane, Wheeler, Vanessa C., Gillis, Tammy, MacDonald, Marcy E., Sequeiros, Jorge, Gusella, James F., Lee, Jong-Min

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/165907/8/fcae016.pdfTest; Hong, Eun Pyo, Ramos, Eliana Marisa, Aziz, N. Ahmad, Massey, Thomas H. https://orca.cardiff.ac.uk/view/cardiffauthors/A1408439W.htmlTest orcid:0000-0002-9804-2131 orcid:0000-0002-9804-2131, McAllister, Branduff https://orca.cardiff.ac.uk/view/cardiffauthors/A2235091O.htmlTest, Lobanov, Sergey orcid:0000-0002-3126-1903 orcid:0000-0002-3126-1903, Jones, Lesley orcid:0000-0002-3007-4612 orcid:0000-0002-3007-4612, Holmans, Peter https://orca.cardiff.ac.uk/view/cardiffauthors/A0466487.htmlTest orcid:0000-0003-0870-9412 orcid:0000-0003-0870-9412, Kwak, Seung, Orth, Michael, Ciosi, Marc, Lomeikaite, Vilija, Monckton, Darren G., Long, Jeffrey D., Lucente, Diane, Wheeler, Vanessa C., Gillis, Tammy, MacDonald, Marcy E., Sequeiros, Jorge, Gusella, James F. and Lee, Jong-Min 2024. Modification of Huntington's disease by short tandem repeats. Brain Communications 6 (2) , fcae016. 10.1093/braincomms/fcae016 https://doi.org/10.1093/braincomms%2Ffcae016Test file https://orca.cardiff.ac.uk/id/eprint/165907/8/fcae016.pdfTest

الإتاحة: https://doi.org/10.1093/braincomms/fcae016Test
https://orca.cardiff.ac.uk/id/eprint/165907Test/
https://orca.cardiff.ac.uk/id/eprint/165907/8/fcae016.pdfTest

المؤلفون: Adamson, Walt E., Noyes, Harry, Johnson, Paul, Cooper, Anneli, Monckton, Darren G., Ogunsola, John, Beckett-Hill, Georgia, Sullivan, Michael, Mark, Patrick, Parekh, Rulan S., MacLeod, Annette

وصف الملف: text

العلاقة: https://eprints.gla.ac.uk/317260/2/317260Suppl.pdfTest; https://eprints.gla.ac.uk/317260/3/317260.pdfTest; Adamson, W. E. et al. (2024) Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders. EBioMedicine , 101, 105000. (doi:10.1016/j.ebiom.2024.105000 ) (PMID:38360481) (PMCID:PMC10944146)

الإتاحة: https://doi.org/10.1016/j.ebiom.2024.105000Test
https://eprints.gla.ac.uk/317260Test/
https://eprints.gla.ac.uk/317260/2/317260Suppl.pdfTest
https://eprints.gla.ac.uk/317260/3/317260.pdfTest

المؤلفون: Sabando, Ainara Ruiz, Lafuente, Edurne Urrutia, Galbete, Arkaitz, Ciosi, Marc, Amigot, Fermín García, Solaesa, Virginia García, Martínez, Victoria Álvarez, Martinez-Descals, Asunción, Mila, Montserrat, Trujillo-Tiebas, Maria José, López-Sendón, Jose Luis, Fenollar-Cortés, María, Legarda, Inés, Noguera, Sara Bernal, Millán, Jose M., Durán-Herrera, Camen, Monckton, Darren G., Ramos-Arroyo, Maria A.

وصف الملف: text

العلاقة: https://eprints.gla.ac.uk/281472/1/281472.pdfTest; Sabando, A. R. et al. (2023) Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease. Human Molecular Genetics , 32(6), pp. 897-906. (doi:10.1093/hmg/ddac224 ) (PMID:36130218) (PMCID:PMC9990985)

الإتاحة: https://doi.org/10.1093/hmg/ddac224Test
https://eprints.gla.ac.uk/281472Test/
https://eprints.gla.ac.uk/281472/1/281472.pdfTest

المؤلفون: Koscik, Timothy R., van der Plas, Ellen, Long, Jeffrey D., Cross, Stephen, Gutmann, Laurie, Cumming, Sarah A., Monckton, Darren G., Shields, Richard K., Magnotta, Vincent, Nopoulos, Peggy C.

المساهمون: National Institutes of Health, National Institute of Neurological Disorders and Stroke

المصدر: Neuromuscular Disorders ; volume 33, issue 8, page 660-669 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2023.05.010Test
https://api.elsevier.com/content/article/PII:S0960896623001475?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623001475?httpAccept=text/plainTest

المؤلفون: Kyung-Hee Kim, Eun Pyo Hong, Yukyeong Lee, McLean, Zachariah L., Elezi, Emanuela, Lee, Ramee, Seung Kwak, McAllister, Branduff, Massey, Thomas H., Lobanov, Sergey, Holmans, Peter, Orth, Michael, Ciosi, Marc, Monckton, Darren G., Long, Jeffrey D., Lucente, Diane, Wheeler, Vanessa C., MacDonald, Marcy E., Gusella, James F., Jong-Min Lee

المصدر: Proceedings of the National Academy of Sciences of the United States of America; 4/16/2024, Vol. 121 Issue 16, p1-9, 18p

مصطلحات موضوعية: HUNTINGTON disease, LOCUS (Genetics), GENE expression, GENETIC variation, MESSENGER RNA

المؤلفون: McAllister, Branduff, Donaldson, Jasmine, Binda, Caroline S, Powell, Sophie, Chughtai, Uroosa, Edwards, Gareth, Stone, Joseph, Lobanov, Sergey, Elliston, Linda, Schuhmacher, Laura-Nadine, Rees, Elliott, Menzies, Georgina, Ciosi, Marc, Maxwell, Alastair, Chao, Michael J, Hong, Eun Pyo, Lucente, Diane, Wheeler, Vanessa, Lee, Jong-Min, MacDonald, Marcy E, Long, Jeffrey D, Aylward, Elizabeth H, Landwehrmeyer, G Bernhard, Rosser, Anne E, REGISTRY Investigators of the European Huntington’s disease network, Silvia, Romano, Paulsen, Jane S, Williams, Nigel M, Gusella, James F, Monckton, Darren G, Allen, Nicholas D, Holmans, Peter, Jones, Lesley, Massey, Thomas H

المساهمون: Branduff, Mcallister, Jasmine, Donaldson, Caroline S, Binda, Sophie, Powell, Uroosa, Chughtai, Gareth, Edward, Joseph, Stone, Sergey, Lobanov, Linda, Elliston, Laura-Nadine, Schuhmacher, Elliott, Ree, Georgina, Menzie, Marc, Ciosi, Alastair, Maxwell, Michael J, Chao, Eun Pyo, Hong, Diane, Lucente, Vanessa, Wheeler, Jong-Min, Lee, Marcy E, Macdonald, Jeffrey D, Long, Elizabeth H, Aylward, G Bernhard, Landwehrmeyer, Anne E, Rosser, Investigators of the European Huntington’s disease network, Registry, Romano, Silvia, Jane S, Paulsen, Nigel M, William, James F, Gusella, Darren G, Monckton, Nicholas D, Allen, Peter, Holman, Lesley, Jone, Thomas H, Massey

مصطلحات موضوعية: exome sequencing, huntington disease, fan1

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35379994; info:eu-repo/semantics/altIdentifier/wos/WOS:000777879200002; volume:25; issue:4; firstpage:446; lastpage:457; numberofpages:12; journal:NATURE NEUROSCIENCE; https://hdl.handle.net/11573/1690351Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128245864

الإتاحة: https://doi.org/10.1038/s41593-022-01033-5Test
https://hdl.handle.net/11573/1690351Test

المؤلفون: Lee, Jong-Min, Huang, Yuan, Orth, Michael, Gillis, Tammy, Siciliano, Jacqueline, Hong, Eunpyo, Mysore, Jayalakshmi Srinidhi, Lucente, Diane, Wheeler, Vanessa C., Seong, Ihn Sik, McLean, Zachariah L., Mills, James A., McAllister, Branduff, Lobanov, Sergey V., Massey, Thomas H., Ciosi, Marc, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Dorsey, E. Ray, Shoulson, Ira, Sampaio, Cristina, Monckton, Darren G., Kwak, Seung, Holmans, Peter, Jones, Lesley, MacDonald, Marcy E., Long, Jeffrey D., Gusella, James F.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/151657/1/Lee_Huang_et_al_AJHG_revision_2.pdfTest; Lee, Jong-Min, Huang, Yuan, Orth, Michael, Gillis, Tammy, Siciliano, Jacqueline, Hong, Eunpyo, Mysore, Jayalakshmi Srinidhi, Lucente, Diane, Wheeler, Vanessa C., Seong, Ihn Sik, McLean, Zachariah L., Mills, James A., McAllister, Branduff https://orca.cardiff.ac.uk/view/cardiffauthors/A2235091O.htmlTest, Lobanov, Sergey V. orcid:0000-0002-3126-1903 orcid:0000-0002-3126-1903, Massey, Thomas H. https://orca.cardiff.ac.uk/view/cardiffauthors/A1408439W.htmlTest orcid:0000-0002-9804-2131 orcid:0000-0002-9804-2131, Ciosi, Marc, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Dorsey, E. Ray, Shoulson, Ira, Sampaio, Cristina, Monckton, Darren G., Kwak, Seung, Holmans, Peter https://orca.cardiff.ac.uk/view/cardiffauthors/A0466487.htmlTest orcid:0000-0003-0870-9412 orcid:0000-0003-0870-9412, Jones, Lesley orcid:0000-0002-3007-4612 orcid:0000-0002-3007-4612, MacDonald, Marcy E., Long, Jeffrey D. and Gusella, James F. 2022. Genetic modifiers of Huntington disease differentially influence motor and cognitive domains. American Journal of Human Genetics 109 (5) , pp. 885-899. 10.1016/j.ajhg.2022.03.004 https://doi.org/10.1016/j.ajhg.2022.03.004Test file https://orca.cardiff.ac.uk/id/eprint/151657/1/Lee_Huang_et_al_AJHG_revision_2.pdfTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.03.004Test
https://orca.cardiff.ac.uk/id/eprint/151657Test/
https://orca.cardiff.ac.uk/id/eprint/151657/1/Lee_Huang_et_al_AJHG_revision_2.pdfTest

المؤلفون: Taylor, Alysha S., Barros, Dinis, Gobet, Nastassia, Schuepbach, Thierry, McAllister, Branduff, Aeschbach, Lorene, Randall, Emma L., Trofimenko, Evgeniya, Heuchan, Eleanor R., Barszcz, Paula, Ciosi, Marc, Morgan, Joanne, Hafford-Tear, Nathaniel J., Davidson, Alice E., Massey, Thomas H., Monckton, Darren G., Jones, Lesley, network, REGISTRY Investigators of the European Huntington's disease, Xenarios, Ioannis, Dion, Vincent

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/155975/7/lqac089.pdfTest; Taylor, Alysha S., Barros, Dinis, Gobet, Nastassia, Schuepbach, Thierry, McAllister, Branduff, Aeschbach, Lorene, Randall, Emma L. https://orca.cardiff.ac.uk/view/cardiffauthors/A2470848C.htmlTest, Trofimenko, Evgeniya, Heuchan, Eleanor R. https://orca.cardiff.ac.uk/view/cardiffauthors/A2409612D.htmlTest, Barszcz, Paula, Ciosi, Marc, Morgan, Joanne https://orca.cardiff.ac.uk/view/cardiffauthors/A1308439M.htmlTest, Hafford-Tear, Nathaniel J., Davidson, Alice E., Massey, Thomas H. https://orca.cardiff.ac.uk/view/cardiffauthors/A1408439W.htmlTest orcid:0000-0002-9804-2131 orcid:0000-0002-9804-2131, Monckton, Darren G., Jones, Lesley orcid:0000-0002-3007-4612 orcid:0000-0002-3007-4612, network, REGISTRY Investigators of the European Huntington's disease, Xenarios, Ioannis and Dion, Vincent https://orca.cardiff.ac.uk/view/cardiffauthors/A24239710.htmlTest orcid:0000-0003-4953-7637 orcid:0000-0003-4953-7637 2022. Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing. NAR Genomics and Bioinformatics 4 (4) , lqac089. 10.1093/nargab/lqac089 https://doi.org/10.1093/nargab%2Flqac089Test file https://orca.cardiff.ac.uk/id/eprint/155975/7/lqac089.pdfTest

الإتاحة: https://doi.org/10.1093/nargab/lqac089Test
https://orca.cardiff.ac.uk/id/eprint/155975Test/
https://orca.cardiff.ac.uk/id/eprint/155975/7/lqac089.pdfTest

المؤلفون: Dawson, Jessica, Baine-Savanhu, Fiona K., Ciosi, Marc, Maxwell, Alastair, Monckton, Darren G., Krause, Amanda

وصف الملف: text

العلاقة: http://eprints.gla.ac.uk/274960/1/274960.pdfTest; Dawson, J., Baine-Savanhu, F. K., Ciosi, M. , Maxwell, A. , Monckton, D. G. and Krause, A. (2022) A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry. Human Genetics and Genomics Advances , 3(4), 100130. (doi:10.1016/j.xhgg.2022.100130 ) (PMID:35935919) (PMCID:PMC9352962)

الإتاحة: https://doi.org/10.1016/j.xhgg.2022.100130Test
http://eprints.gla.ac.uk/274960Test/
http://eprints.gla.ac.uk/274960/1/274960.pdfTest