المؤلفون: Kõks, S., Singleton, L.M., Quinn, J.P., Bubb, V.J., Pfaff, A.L.

المصدر: Kõks, S. , Singleton, L.M., Quinn, J.P., Bubb, V.J. and Pfaff, A.L. orcid:0000-0002-2231-9800 (2022) Analysis of the retrotransposon SINE-VNTR-Alu (SVA) polymorphisms in the genetics and pathophysiology of complex diseases. In: Proukakis, C., (ed.) Genomic Structural Variants in Nervous System Disorders. Humana Press, pp. 63-77.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/65097Test/; full_text_status:none

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/65097Test/

المؤلفون: Marshall, J.N.G., Fröhlich, A., Li, L., Pfaff, A.L., Middlehurst, B., Spargo, T.P., Iacoangeli, A., Lang, B., Al-Chalabi, A., Kõks, S., Bubb, V.J., Quinn, J.P.

المصدر: Marshall, J.N.G., Fröhlich, A., Li, L. , Pfaff, A.L. orcid:0000-0002-2231-9800 , Middlehurst, B., Spargo, T.P., Iacoangeli, A., Lang, B., Al-Chalabi, A., Kõks, S. , Bubb, V.J. and Quinn, J.P. (2022) A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression. Frontiers in Molecular Neuroscience, 15 . Art. 954928.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/66174Test/; full_text_status:public

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/66174Test/

المؤلفون: Savage, A.L., Iacoangeli, A., Schumann, G.G., Rubio-Roldan, A., Garcia-Perez, J.L., Al Khleifat, A., Kõks, S., Bubb, V.J., Al-Chalabi, A., Quinn, J.P.

المصدر: Savage, A.L. orcid:0000-0002-2231-9800 , Iacoangeli, A., Schumann, G.G., Rubio-Roldan, A., Garcia-Perez, J.L., Al Khleifat, A., Kõks, S. , Bubb, V.J., Al-Chalabi, A. and Quinn, J.P. (2022) Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis. Gene, 843 . Art. 146799.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/65893Test/; full_text_status:public

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/65893Test/

المؤلفون: Pfaff, A.L., Bubb, V.J., Quinn, J.P., Kõks, S.

المصدر: Pfaff, A.L. orcid:0000-0002-2231-9800 , Bubb, V.J., Quinn, J.P. and Kõks, S. (2022) Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis. Molecular Brain, 15 (1). Art. 25.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/64409Test/; full_text_status:public

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/64409Test/

المؤلفون: Fröhlich, A., Pfaff, A.L., Bubb, V.J., Kõks, S., Quinn, J.P.

المصدر: Fröhlich, A., Pfaff, A.L. orcid:0000-0002-2231-9800 , Bubb, V.J., Kõks, S. and Quinn, J.P. (2022) Characterisation of the Function of a SINE-VNTR-Alu Retrotransposon to Modulate Isoform Expression at the MAPT Locus. Frontiers in Molecular Neuroscience, 15 . Art. 815695.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/64399Test/; full_text_status:public

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/64399Test/

المؤلفون: Jones, L.H., Marney, L.D., Quinn, J.P., Bubb, V.J., Kõks, S., Pfaff, A.L.

المصدر: Jones, L.H., Marney, L.D., Quinn, J.P., Bubb, V.J., Kõks, S. and Pfaff, A.L. orcid:0000-0002-2231-9800 (2021) Identification of molecular markers that correlate with the progression of Parkinson’s Disease. In: BNA 2021 5th Festival of Neuroscience, 12 - 15 April 2021, Virtual.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/62080Test/; full_text_status:none

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/62080Test/

المؤلفون: Pfaff, A.L., Bubb, V.J., Quinn, J.P., Kõks, S.

المصدر: Pfaff, A.L. orcid:0000-0002-2231-9800 , Bubb, V.J., Quinn, J.P. and Kõks, S. (2021) Reference SVA insertion polymorphisms are associated with Parkinson’s disease progression and differential gene expression. npj Parkinson's Disease, 7 . Article 44.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/61083Test/; full_text_status:public

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/61083Test/

المؤلفون: Kõks, G., Pfaff, A.L., Bubb, V.J., Quinn, J.P., Kõks, S.

المصدر: Kõks, G., Pfaff, A.L. orcid:0000-0002-2231-9800 , Bubb, V.J., Quinn, J.P. and Kõks, S. (2021) At the dawn of the transcriptomic medicine. Experimental Biology and Medicine, 246 (3). pp. 286-292.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/57916Test/; full_text_status:none

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/57916Test/

المؤلفون: Marshall, J.N., Lopez, A.I., Pfaff, A.L., Kõks, S., Quinn, J.P., Bubb, V.J.

المصدر: Marshall, J.N., Lopez, A.I., Pfaff, A.L. , Kõks, S. , Quinn, J.P. and Bubb, V.J. (2021) Variable number tandem repeats – Their emerging role in sickness and health. Experimental Biology and Medicine, 246 (12). pp. 1368-1376.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/60449Test/; full_text_status:public

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/60449Test/

المؤلفون: Kõks, S., Pfaff, A.L., Bubb, V.J., Quinn, J.P.

المصدر: Kõks, S. , Pfaff, A.L. , Bubb, V.J. and Quinn, J.P. (2021) Transcript variants of genes involved in neurodegeneration are differentially regulated by the APOE and MAPT haplotypes. Genes, 12 (3). Article 423.

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/60313Test/; full_text_status:public

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/60313Test/