Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy
Cortes, Constanza J., Ling, Shuo-Chien, Guo, Ling T., Hung, Gene, Tsunemi, Taiji, Ly, Linda, Tokunaga, Seiya, Lopez, Edith, Sopher, Bryce L., Bennett, C. Frank, Shelton, G. Diane, Cleveland, Don W., La Spada, Albert R.
Published in Neuron (Cambridge, Mass.) (16.04.2014)
Published in Neuron (Cambridge, Mass.) (16.04.2014)
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Journal Article
Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X‐linked muscular dystrophy in a cat
Shelton, G. Diane, Tucciarone, Fabrizio, Guo, Ling T., Coghill, Lyndon M., Lyons, Leslie A.
Published in Journal of veterinary internal medicine (01.01.2024)
Published in Journal of veterinary internal medicine (01.01.2024)
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Journal Article
Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich‐like congenital muscular dystrophy
Jankelunas, Leanne, Murthy, Vishal D., Chen, Annie V., Minor, Katie M., Friedenberg, Steven G., Cullen, Jonah N., Guo, Ling T., Mickelson, James R., Shelton, G. Diane
Published in Journal of veterinary internal medicine (01.11.2023)
Published in Journal of veterinary internal medicine (01.11.2023)
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Journal Article
Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs
Sánchez, Lluís, Beltrán, Elsa, de Stefani, Alberta, Guo, Ling T, Shea, Anita, Shelton, G Diane, De Risio, Luisa, Burmeister, Louise M
Published in PloS one (23.02.2018)
Published in PloS one (23.02.2018)
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Journal Article
X‐linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat
Kopke, Matthew A., Diane Shelton, G., Lyons, Leslie A., Wall, Meredith J., Pemberton, Sarah, Gedye, Kristene R., Owen, Rebecca, Guo, Ling T., Buckley, Reuben M., Valencia, Juan A., Jones, Boyd R.
Published in Journal of veterinary internal medicine (01.09.2022)
Published in Journal of veterinary internal medicine (01.09.2022)
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Journal Article
Congenital dyserythropoiesis and polymyopathy without cardiac disease in male Labrador retriever littermates
Thomas‐Hollands, Alison, Shelton, G. Diane, Guo, Ling T., Loughran, Kerry, Kaiman, Gregory, Hutton, Tabitha, Walsh, Koranda A.
Published in Journal of veterinary internal medicine (01.09.2021)
Published in Journal of veterinary internal medicine (01.09.2021)
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Journal Article
Nesprin 1 is critical for nuclear positioning and anchorage
Zhang, Jianlin, Felder, Amanda, Liu, Yujie, Guo, Ling T., Lange, Stephan, Dalton, Nancy D., Gu, Yusu, Peterson, Kirk L., Mizisin, Andrew P., Shelton, G. Diane, Lieber, Richard L., Chen, Ju
Published in Human molecular genetics (15.01.2010)
Published in Human molecular genetics (15.01.2010)
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Journal Article
Multi-Allelic Mitochondrial DNA Deletions in an Adult Dog with Chronic Weakness, Exercise Intolerance and Lactic Acidemia
Shelton, G Diane, Mickelson, James R, Friedenberg, Steven G, Cullen, Jonah N, Mehra, Jaya M, Guo, Ling T, Minor, Katie M
Published in Animals (Basel) (30.06.2024)
Published in Animals (Basel) (30.06.2024)
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Journal Article
Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs
Shelton, G Diane, Mickelson, James R, Friedenberg, Steven G, Cullen, Jonah N, Graham, Karina, Carpentier, Missy C, Guo, Ling T, Minor, Katie M
Published in Animals (Basel) (25.02.2024)
Published in Animals (Basel) (25.02.2024)
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Journal Article
A Nonsense Variant in the DMD Gene Causes X-Linked Muscular Dystrophy in the Maine Coon Cat
Beckers, Evy, Cornelis, Ine, Bhatti, Sofie F M, Smets, Pascale, Shelton, G Diane, Guo, Ling T, Peelman, Luc, Broeckx, Bart J G
Published in Animals (Basel) (25.10.2022)
Published in Animals (Basel) (25.10.2022)
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Journal Article
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
Beggs, Alan H., Böhm, Johann, Snead, Elizabeth, Kozlowski, Marek, Maurer, Marie, Minor, Katie, Childers, Martin K., Taylor, Susan M., Hitte, Christophe, Mickelson, James R., Guo, Ling T., Mizisin, Andrew P., Buj-Bello, Anna, Tiret, Laurent, Laporte, Jocelyn, Shelton, G. Diane, Kunkel, Louis M.
Published in Proceedings of the National Academy of Sciences - PNAS (17.08.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (17.08.2010)
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Journal Article
Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation
Tsai, Kate L., Vernau, Karen M., Winger, Kathryn, Zwueste, Danielle M., Sturges, Beverly K., Knipe, Marguerite, Williams, D. Colette, Anderson, Kendall J., Evans, Jacquelyn M., Guo, Ling T., Clark, Leigh Anne, Shelton, G. Diane
Published in Journal of veterinary internal medicine (01.01.2020)
Published in Journal of veterinary internal medicine (01.01.2020)
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Journal Article
Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D
Mickelson, James R, Minor, Katie M, Guo, Ling T, Friedenberg, Steven G, Cullen, Jonah N, Ciavarella, Amanda, Hambrook, Lydia E, Brenner, Karen M, Helmond, Sarah E, Marks, Stanley L, Shelton, G Diane
Published in Skeletal muscle (07.01.2021)
Published in Skeletal muscle (07.01.2021)
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Journal Article
A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome
Rinz, Caitlin J, Levine, Jonathan, Minor, Katie M, Humphries, Hammon D, Lara, Renee, Starr-Moss, Alison N, Guo, Ling T, Williams, D Colette, Shelton, G Diane, Clark, Leigh Anne
Published in PloS one (28.08.2014)
Published in PloS one (28.08.2014)
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Journal Article
A novel mutation in CLCN1 associated with feline myotonia congenita
Gandolfi, Barbara, Daniel, Rob J, O'Brien, Dennis P, Guo, Ling T, Youngs, Melanie D, Leach, Stacey B, Jones, Boyd R, Shelton, G Diane, Lyons, Leslie A
Published in PloS one (30.10.2014)
Published in PloS one (30.10.2014)
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Journal Article
Secretion of amyloidogenic gelsolin progressively compromises protein homeostasis leading to the intracellular aggregation of proteins
Page, Lesley J, Suk, Ji Young, Bazhenova, Lyudmila, Fleming, Sheila M, Wood, Malcolm, Jiang, Yun, Guo, Ling T, Mizisin, Andrew P, Kisilevsky, Robert, Shelton, G. Diane, Balch, William E, Kelly, Jeffery W
Published in Proceedings of the National Academy of Sciences - PNAS (07.07.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (07.07.2009)
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Journal Article
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers
Cox, Melissa L, Evans, Jacquelyn M, Davis, Alexander G, Guo, Ling T, Levy, Jennifer R, Starr-Moss, Alison N, Salmela, Elina, Hytönen, Marjo K, Lohi, Hannes, Campbell, Kevin P, Clark, Leigh Anne, Shelton, G Diane
Published in Skeletal muscle (11.07.2017)
Published in Skeletal muscle (11.07.2017)
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Journal Article
Congenital Myasthenic Syndrome in a Mixed Breed Dog
Blakey, Theresa J, Michaels, Jennifer R, Guo, Ling T, Hodshon, Amy J, Shelton, G Diane
Published in Frontiers in veterinary science (17.10.2017)
Published in Frontiers in veterinary science (17.10.2017)
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