Publications by authors named "Danuta Loesch"

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Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.
Danuta Z Loesch, Freddy Chafota, Minh Q Bui, Elsdon Storey, Anna Atkinson

Mol Genet Genomic Med· November 2024

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Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation.
Danuta Z Loesch, Anna Atkinson, Deborah A Hall, Flora Tassone, Paige Stimpson

Front Neurol· June 2024

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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on Premutation.
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D Archibald, Anna Baud, Danuta Loesch

Cells· September 2023

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Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome.
Darren R Hocking, Danuta Z Loesch, Paige Stimpson, Flora Tassone, Anna Atkinson

Brain Sci· November 2022

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Australian Parkinson's Genetics Study (APGS): pilot (n=1532).
Svetlana Bivol, George D Mellick, Jacob Gratten, Richard Parker, Aoibhe Mulcahy, Danuta Z Loesch

BMJ Open· February 2022

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Limb development genes underlie variation in human fingerprint patterns.
Jinxi Li, James D Glover, Haiguo Zhang, Meifang Peng, Jingze Tan, Danuta Z Loesch

Cell· January 2022

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Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female Premutation Carriers.
Darren R Hocking, Danuta Z Loesch, Paige Stimpson, Flora Tassone, Anna Atkinson

Front Psychiatry· December 2021

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Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers.
Danuta Z Loesch, Bruce E Kemp, Minh Q Bui, Paul R Fisher, Claire Y Allan

Front Psychiatry· November 2021

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Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene.
Paul R Fisher, Claire Y Allan, Oana Sanislav, Anna Atkinson, Kevin R W Ngoei, Danuta Z Loesch

Int J Mol Sci· September 2021

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Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways.
Elsdon Storey, Minh Q Bui, Paige Stimpson, Flora Tassone, Anna Atkinson, Danuta Z Loesch

Cerebellum Ataxias· June 2021

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'Essential Tremor' Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers.
Danuta Z Loesch, David L Duffy, Nicholas G Martin, Flora Tassone, Anna Atkinson

Twin Res Hum Genet· April 2021

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Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement.
Danuta Z Loesch, Flora Tassone, Anna Atkinson, Paige Stimpson, Nicholas Trost

Front Mol Biosci· January 2021

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Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the Premutation.
Darren R Hocking, Danuta Z Loesch, Nicholas Trost, Minh Q Bui, Eleanor Hammersley

Front Neurol· August 2019

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The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers.
Danuta Z Loesch, Nicholas Trost, Minh Q Bui, Eleanor Hammersley, Sui T Lay

Front Genet· November 2018

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Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females.
Danuta Z Loesch, Flora Tassone, George D Mellick, Malcolm Horne, Justin P Rubio

Mov Disord· July 2018

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Skeletal Growth Dysregulation in Australian Male Infants and Toddlers With Autism Spectrum Disorder.
Cherie C Green, Cheryl Dissanayake, Danuta Z Loesch, Minh Bui, Josephine Barbaro

Autism Res· June 2018

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Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome.
Danuta Z Loesch, Sarah J Annesley, Nicholas Trost, Minh Q Bui, Sui T Lay

Neurodegener Dis· July 2017

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Immortalized Parkinson's disease lymphocytes have enhanced mitochondrial respiratory activity.
Sarah J Annesley, Sui T Lay, Shawn W De Piazza, Oana Sanislav, Eleanor Hammersley, Danuta Z Loesch

Dis Model Mech· November 2016

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Common Genetic Variants Influence Whorls in Fingerprint Patterns.
Yvonne Y W Ho, David M Evans, Grant W Montgomery, Anjali K Henders, John P Kemp, Danuta Z Loesch

J Invest Dermatol· April 2016

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White matter changes in patients with Parkinson's disease carrying small CGG expansion FMR1 alleles: a pilot study.
Nicholas Trost, Mark Cook, Eleanor Hammersley, Minh Q Bui, Peter Brotchie, Danuta Z Loesch

Neurodegener Dis· May 2015

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Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.
Yoshimi Inaba, Charles E Schwartz, Quang M Bui, Xin Li, Cindy Skinner, Danuta Z Loesch

Clin Chem· July 2014

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Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.
Yoshimi Inaba, Amy S Herlihy, Charles E Schwartz, Cindy Skinner, Quang M Bui, Danuta Z Loesch

Genet Med· April 2013

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Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
David E Godler, Yoshimi Inaba, Elva Z Shi, Cindy Skinner, Quang M Bui, Danuta Z Loesch

Hum Mol Genet· April 2013

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Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS).
Alyssa A Hamlin, Dina Sukharev, Luis Campos, Yi Mu, Flora Tassone, Danuta Loesch

Am J Med Genet A· June 2012

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Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.
David E Godler, Howard R Slater, Quang M Bui, Elsdon Storey, Michele Y Ono, Danuta Z Loesch

Clin Chem· March 2012

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