المؤلفون: Harvey, C., Weinreich, M., Lee, J.A.K., Shaw, A.C., Ferraiuolo, L., Mortiboys, H., Zhang, S., Hop, P.J., Zwamborn, R.A.J., van Eijk, K., Julian, T.H., Moll, T., Iacoangeli, A., Al Khleifat, A., Quinn, J.P., Pfaff, A.L., Kõks, S., Poulton, J., Battle, S.L., Arking, D.E., Snyder, M.P., Veldink, J.H., Kenna, K.P., Shaw, P.J., Cooper-Knock, J.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/209377/1/1-s2.0-S2405844024010065-main.pdfTest; Harvey, C., Weinreich, M. orcid.org/0009-0003-1576-3385 , Lee, J.A.K. orcid.org/0000-0001-9843-6475 et al. (22 more authors) (2024) Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis. Heliyon, 10 (3). e24975. ISSN 2405-8440

الإتاحة: https://eprints.whiterose.ac.uk/209377Test/
https://eprints.whiterose.ac.uk/209377/1/1-s2.0-S2405844024010065-main.pdfTest

المؤلفون: Welsh, J.M., Taschetto, A.S., Quinn, J.P.

المساهمون: Australian Research Council, Commonwealth Scientific and Industrial Research Organisation

المصدر: European Journal of Agronomy ; volume 140, page 126604 ; ISSN 1161-0301

مصطلحات موضوعية: Plant Science, Soil Science, Agronomy and Crop Science

الإتاحة: https://doi.org/10.1016/j.eja.2022.126604Test
https://api.elsevier.com/content/article/PII:S1161030122001526?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1161030122001526?httpAccept=text/plainTest

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

المصدر: Kõks, S. , Pfaff, A.L. orcid:0000-0002-2231-9800 , Bubb, V. J. and Quinn, J.P. (2022) Longitudinal intronic RNA-Seq analysis of Parkinson’s disease patients reveals disease-specific nascent transcription. Experimental Biology and Medicine .

العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/64262Test/; full_text_status:none

الإتاحة: https://researchrepository.murdoch.edu.au/id/eprint/64262Test/

المؤلفون: Paula, F.S., Chin, J.P., Schnurer, A., Muller, B., Manesiotis, P., Waters, N., Macintosh, K.A., Quinn, J.P., Connolly, J., Abram, F., McGrath, J.W., O'Flaherty, V.

مصطلحات موضوعية: Adaptation, Alignment, Gene expression, Inorganic polyphosphate, Kinase gene

العلاقة: Scientific Reports, 9, Article No. 17101.; https://research-scotland.ac.uk/handle/20.500.12594/27968Test; https://doi.org/10.1038/s41598-019-53168-4Test

الإتاحة: https://doi.org/20.500.12594/2796810.1038/s41598-019-53168-4Test
https://research-scotland.ac.uk/handle/20.500.12594/27968Test
https://hdl.handle.net/20.500.12594/27968Test

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/