Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways

por Storey, Elsdon, Bui, Minh Q., Stimpson, Paige, Tassone, Flora, Atkinson, Anna, Loesch, Danuta Z.
Publicado 2021

Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers

por Hocking, Darren R., Loesch, Danuta Z., Stimpson, Paige, Tassone, Flora, Atkinson, Anna, Storey, Elsdon
Publicado 2021

Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome

por Hocking, Darren R., Loesch, Danuta Z., Stimpson, Paige, Tassone, Flora, Atkinson, Anna, Storey, Elsdon
Publicado 2022

Linkage Analysis of a Model Quantitative Trait in Humans: Finger Ridge Count Shows Significant Multivariate Linkage to 5q14.1

por Medland, Sarah E, Loesch, Danuta Z, Mdzewski, Bogdan, Zhu, Gu, Montgomery, Grant W, Martin, Nicholas G
Publicado 2007

Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement

por Loesch, Danuta Z., Tassone, Flora, Atkinson, Anna, Stimpson, Paige, Trost, Nicholas, Pountney, Dean L., Storey, Elsdon
Publicado 2021

Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the FMR1 Premutation

por Hocking, Darren R., Loesch, Danuta Z., Trost, Nicholas, Bui, Minh Q., Hammersley, Eleanor, Francis, David, Tassone, Flora, Storey, Elsdon
Publicado 2019

Improved Methodology for Assessment of mRNA Levels in Blood of Patients with FMR1 Related Disorders

por Godler, David E, Loesch, Danuta Z, Huggins, Richard, Gordon, Lavinia, Slater, Howard R, Gehling, Freya, Burgess, Trent, Choo, KH Andy
Publicado 2009

Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene

por Fisher, Paul R., Allan, Claire Y., Sanislav, Oana, Atkinson, Anna, Ngoei, Kevin R. W., Kemp, Bruce E., Storey, Elsdon, Loesch, Danuta Z., Annesley, Sarah J.
Publicado 2021

Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers

por Loesch, Danuta Z., Kemp, Bruce E., Bui, Minh Q., Fisher, Paul R., Allan, Claire Y., Sanislav, Oana, Ngoei, Kevin R. W., Atkinson, Anna, Tassone, Flora, Annesley, Sarah J., Storey, Elsdon
Publicado 2021

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 Cel...

por Loesch, Danuta Z., Trost, Nicholas, Bui, Minh Q., Hammersley, Eleanor, Lay, Sui T., Annesley, Sarah J., Sanislav, Oana, Allan, Claire Y., Tassone, Flora, Chen, Zhi-Ping, Ngoei, Kevin R. W., Kemp, Bruce E., Francis, David, Fisher, Paul R., Storey, Elsdon
Publicado 2018

Genetic variant influence on whorls in fingerprint patterns

por Ho, Yvonne YW, Evans, David M, Montgomery, Grant W, Henders, Anjali K, Kemp, John P, Timpson, Nicholas J, St Pourcain, Beate, Heath, Andrew C, Madden, Pamela AF, Loesch, Danuta Z, McNevin, Dennis, Daniel, Runa, Davey-Smith, George, Martin, Nicholas G, Medland, Sarah E
Publicado 2016

Immortalized Parkinson's disease lymphocytes have enhanced mitochondrial respiratory activity

por Annesley, Sarah J., Lay, Sui T., De Piazza, Shawn W., Sanislav, Oana, Hammersley, Eleanor, Allan, Claire Y., Francione, Lisa M., Bui, Minh Q., Chen, Zhi-Ping, Ngoei, Kevin R. W., Tassone, Flora, Kemp, Bruce E., Storey, Elsdon, Evans, Andrew, Loesch, Danuta Z., Fisher, Paul R.
Publicado 2016

Australian Parkinson’s Genetics Study (APGS): pilot (n=1532)

por Bivol, Svetlana, Mellick, George D, Gratten, Jacob, Parker, Richard, Mulcahy, Aoibhe, Mosley, Philip E, Poortvliet, Peter C, Campos, Adrian I, Mitchell, Brittany L, Garcia-Marin, Luis M, Cross, Simone, Ferguson, Mary, Lind, Penelope A, Loesch, Danuta Z, Visscher, Peter M, Medland, Sarah E, Scherzer, Clemens R, Martin, Nicholas G, Rentería, Miguel E
Publicado 2022

Limb development genes underlie variation in human fingerprint patterns

por Li, Jinxi, Glover, James D., Zhang, Haiguo, Peng, Meifang, Tan, Jingze, Mallick, Chandana Basu, Hou, Dan, Yang, Yajun, Wu, Sijie, Liu, Yu, Peng, Qianqian, Zheng, Shijie C., Crosse, Edie I., Medvinsky, Alexander, Anderson, Richard A., Brown, Helen, Yuan, Ziyu, Zhou, Shen, Xu, Yanqing, Kemp, John P., Ho, Yvonne Y.W., Loesch, Danuta Z., Wang, Lizhong, Li, Yingxiang, Tang, Senwei, Wu, Xiaoli, Walters, Robin G., Lin, Kuang, Meng, Ruogu, Lv, Jun, Chernus, Jonathan M., Neiswanger, Katherine, Feingold, Eleanor, Evans, David M., Medland, Sarah E., Martin, Nicholas G., Weinberg, Seth M., Marazita, Mary L., Chen, Gang, Chen, Zhengming, Zhou, Yong, Cheeseman, Michael, Wang, Lan, Jin, Li, Headon, Denis J., Wang, Sijia
Publicado 2022