المؤلفون: Li, J, Glover, JD, Zhang, H, Peng, M, Tan, J, Mallick, CB, Hou, D, Yang, Y, Wu, S, Liu, Y, Peng, Q, Zheng, SC, Crosse, EI, Medvinsky, A, Anderson, RA, Brown, H, Yuan, Z, Zhou, S, Xu, Y, Kemp, JP, Ho, YYW, Loesch, DZ, Wang, L, Li, Y, Tang, S, Wu, X, Walters, RG, Lin, K, Meng, R, Lv, J, Chernus, JM, Neiswanger, K, Feingold, E, Evans, DM, Medland, SE, Martin, NG, Weinberg, SM, Marazita, ML, Chen, G, Chen, Z, Zhou, Y, Cheeseman, M, Jin, L, Headon, DJ, Wang, S

العلاقة: https://ora.ox.ac.uk/objects/uuid:fa990c11-d055-4bb3-8943-393982a70622Test; https://doi.org/10.1016/j.cell.2021.12.008Test

الإتاحة: https://doi.org/10.1016/j.cell.2021.12.008Test
https://ora.ox.ac.uk/objects/uuid:fa990c11-d055-4bb3-8943-393982a70622Test

المؤلفون: Loesch, DZ, Bui, MQ, Hammersley, E, Schneider, A, Storey, E, Stimpson, P, Burgess, T, Francis, D, Slater, H, Tassone, F, Hagerman, RJ, Hessl, D

المصدر: Clinical Genetics. 87(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Neurosciences, Fragile X Syndrome, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Mental Health, Mental health, Good Health and Well Being, Adolescent, Adult, Aged, Aged, 80 and over, Alleles, Female, Fragile X Mental Retardation Protein, Genetic Carrier Screening, Humans, Intellectual Disability, Middle Aged, Mutation, Trinucleotide Repeat Expansion, CGG repeat size, FMR1 premutation, premutation female carriers, psychological symptoms, regression analysis, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7636t3krTest

المؤلفون: Loesch, DZ, Tassone, F, Atkinson, A, Stimpson, P, Trost, N, Pountney, DL, Storey, E

العلاقة: Loesch, D. Z., Tassone, F., Atkinson, A., Stimpson, P., Trost, N., Pountney, D. L. & Storey, E. (2021). Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement. FRONTIERS IN MOLECULAR BIOSCIENCES, 7, https://doi.org/10.3389/fmolb.2020.577246Test.; http://hdl.handle.net/11343/304548Test

الإتاحة: https://doi.org/10.3389/fmolb.2020.577246Test
http://hdl.handle.net/11343/304548Test

المؤلفون: Storey, E, Bui, MQ, Stimpson, P, Tassone, F, Atkinson, A, Loesch, DZ

العلاقة: pii: 10.1186/s40673-021-00138-0; Storey, E., Bui, M. Q., Stimpson, P., Tassone, F., Atkinson, A. & Loesch, D. Z. (2021). Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways. Cerebellum Ataxias, 8 (1), pp.15-. https://doi.org/10.1186/s40673-021-00138-0Test.; http://hdl.handle.net/11343/281237Test

الإتاحة: https://doi.org/10.1186/s40673-021-00138-0Test
http://hdl.handle.net/11343/281237Test

المؤلفون: Loesch, DZ, Kemp, BE, Bui, MQ, Fisher, PR, Allan, CY, Sanislav, O, Ngoei, KRW, Atkinson, A, Tassone, F, Annesley, SJ, Storey, E

العلاقة: Loesch, D. Z., Kemp, B. E., Bui, M. Q., Fisher, P. R., Allan, C. Y., Sanislav, O., Ngoei, K. R. W., Atkinson, A., Tassone, F., Annesley, S. J. & Storey, E. (2021). Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers. FRONTIERS IN PSYCHIATRY, 12, https://doi.org/10.3389/fpsyt.2021.747268Test.; http://hdl.handle.net/11343/296226Test

الإتاحة: https://doi.org/10.3389/fpsyt.2021.747268Test
http://hdl.handle.net/11343/296226Test

المؤلفون: Hocking, DR, Loesch, DZ, Trost, N, Bui, MQ, Hammersley, E, Francis, D, Tassone, F, Storeys, E

العلاقة: Hocking, D. R., Loesch, D. Z., Trost, N., Bui, M. Q., Hammersley, E., Francis, D., Tassone, F. & Storeys, E. (2019). Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the FMR1 Premutation. FRONTIERS IN NEUROLOGY, 10 (JUL), https://doi.org/10.3389/fneur.2019.00832Test.; http://hdl.handle.net/11343/249979Test

الإتاحة: https://doi.org/10.3389/fneur.2019.00832Test
http://hdl.handle.net/11343/249979Test

المؤلفون: Loesch, DZ, Trost, N, Bui, MQ, Hammersley, E, Lay, ST, Annesley, SJ, Sanislav, O, Allan, CY, Tassone, F, Chen, Z-P, Ngoei, KRW, Kemp, BE, Francis, D, Fisher, PR, Storey, E

العلاقة: Loesch, D. Z., Trost, N., Bui, M. Q., Hammersley, E., Lay, S. T., Annesley, S. J., Sanislav, O., Allan, C. Y., Tassone, F., Chen, Z. -P., Ngoei, K. R. W., Kemp, B. E., Francis, D., Fisher, P. R. & Storey, E. (2018). The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers. FRONTIERS IN GENETICS, 9, https://doi.org/10.3389/fgene.2018.00531Test.; http://hdl.handle.net/11343/253262Test

الإتاحة: https://doi.org/10.3389/fgene.2018.00531Test
http://hdl.handle.net/11343/253262Test

المؤلفون: Ho, YYW, Evans, DM, Montgomery, GW, Henders, AK, Kemp, JP, Timpson, NJ, St Pourcain, B, Heath, AC, Madden, PAF, Loesch, DZ, McNevin, D, Daniel, R, Davey-Smith, G, Martin, NG, Medland, SE

مصطلحات موضوعية: 1103 Clinical Sciences, 1112 Oncology and Carcinogenesis, Dermatology & Venereal Diseases, Dermatoglyphics, Family Health, Fingers, Gene Frequency, Genetic Variation, Genotype, Humans, Longitudinal Studies, Meta-Analysis as Topic, Models, Genetic, Multivariate Analysis, Parents, Phenotype, Polymorphism, Single Nucleotide, Queensland, United Kingdom

وصف الملف: Print-Electronic; application/pdf

العلاقة: J Invest Dermatol; J Invest Dermatol, 2016, 136, (4), pp. 859-862; http://hdl.handle.net/10453/154004Test

الإتاحة: http://hdl.handle.net/10453/154004Test

المؤلفون: Annesley, SJ, Lay, ST, De Piazza, SW, Sanislav, O, Hammersley, E, Allan, CY, Francione, LM, Bui, MQ, Chen, Z-P, Ngoei, KRW, Tassone, F, Kemp, BE, Storey, E, Evans, A, Loesch, DZ, Fisher, PR

العلاقة: pii: dmm.025684; Annesley, S. J., Lay, S. T., De Piazza, S. W., Sanislav, O., Hammersley, E., Allan, C. Y., Francione, L. M., Bui, M. Q., Chen, Z. -P., Ngoei, K. R. W., Tassone, F., Kemp, B. E., Storey, E., Evans, A., Loesch, D. Z. & Fisher, P. R. (2016). Immortalized Parkinson's disease lymphocytes have enhanced mitochondrial respiratory activity. DISEASE MODELS & MECHANISMS, 9 (11), pp.1295-1305. https://doi.org/10.1242/dmm.025684Test.; http://hdl.handle.net/11343/146411Test

الإتاحة: https://doi.org/10.1242/dmm.025684Test
http://hdl.handle.net/11343/146411Test

المؤلفون: Godler, DE, Loesch, DZ, Huggins, R, Gordon, L, Slater, HR, Gehling, F, Burgess, T, Choo, KHA

العلاقة: pii: 1472-6890-9-5; Godler, D. E., Loesch, D. Z., Huggins, R., Gordon, L., Slater, H. R., Gehling, F., Burgess, T. & Choo, K. H. A. (2009). Improved Methodology for Assessment of mRNA Levels in Blood of Patients with FMR1 Related Disorders. BMC CLINICAL PATHOLOGY, 9 (1), https://doi.org/10.1186/1472-6890-9-5Test.; http://hdl.handle.net/11343/270213Test

الإتاحة: https://doi.org/10.1186/1472-6890-9-5Test
http://hdl.handle.net/11343/270213Test