نتائج البحث - "Swalwell, Helen"

1

Dissertation/ Thesis

Mitochondrial DNA Mutations in Human Disease

المؤلفون: Swalwell, Helen

مصطلحات موضوعية: 616.042

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.485565

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2

Academic Journal

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

المؤلفون: Swalwell, Helen, Kirby, Denise M, Blakely, Emma L, Mitchell, Anna, Salemi, Renato, Sugiana, Canny, Compton, Alison G, Tucker, Elena J, Ke, Bi-Xia, Lamont, Phillipa J, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W, Thorburn, David R

المصدر: European Journal of Human Genetics ; volume 19, issue 7, page 769-775 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2011.18
http://www.nature.com/articles/ejhg201118.pdf
http://www.nature.com/articles/ejhg201118

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3

Academic Journal

How mitochondria record the effects of UV exposure and oxidative stress using human skin as a model tissue

المؤلفون: Birch-Machin, Mark A., Swalwell, Helen

مصطلحات موضوعية: REVIEWS

وصف الملف: text/html

Relation: http://mutage.oxfordjournals.org/cgi/content/short/25/2/101; http://dx.doi.org/10.1093/mutage/gep061

الاتاحة: http://mutage.oxfordjournals.org/cgi/content/short/25/2/101
https://doi.org/10.1093/mutage/gep061

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4

Academic Journal

Mitochondrial Transfer RNAPhe Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia-Rigidity

المؤلفون: Young, Tim M., Blakely, Emma L., Swalwell, Helen, Carter, Janet E., Kartsounis, Luke D., O’Donovan, Dominic G., Turnbull, Douglass M., Taylor, Robert W., de Silva, Rajith N.

المصدر: Archives of Neurology ; volume 67, issue 11 ; ISSN 0003-9942

الاتاحة: http://dx.doi.org/10.1001/archneurol.2010.283
http://jamanetwork.com/journals/jamaneurology/fullarticle/801543

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5

Academic Journal

A New Mitochondrial Transfer RNAPro Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features

المؤلفون: Blakely, Emma L., Trip, S. Anand, Swalwell, Helen, He, Langping, Wren, Damian R., Rich, Philip, Turnbull, Douglass M., Omer, Salah E., Taylor, Robert W.

المصدر: Archives of Neurology ; volume 66, issue 3 ; ISSN 0003-9942

الاتاحة: http://dx.doi.org/10.1001/archneurol.2008.576
http://jamanetwork.com/journals/jamaneurology/fullarticle/796650

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6

Academic Journal

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

المؤلفون: Swalwell, Helen, Blakely, Emma L, Sutton, Ruth, Tonska, Kasia, Elstner, Matthias, He, Langping, Taivassalo, Tanja, Burns, Dennis K, Turnbull, Douglass M, Haller, Ronald G, Davidson, Mercy M, Taylor, Robert W

المصدر: European Journal of Human Genetics ; volume 16, issue 10, page 1265-1274 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2008.65
http://www.nature.com/articles/ejhg200865.pdf
http://www.nature.com/articles/ejhg200865

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7

Academic Journal

Novel Mitochondrial Transfer RNAPhe Gene Mutation Associated With Late-Onset Neuromuscular Disease

المؤلفون: Deschauer, Marcus, Swalwell, Helen, Strauss, Maria, Zierz, Stephan, Taylor, Robert W.

المصدر: Archives of Neurology ; volume 63, issue 6, page 902 ; ISSN 0003-9942

الاتاحة: http://dx.doi.org/10.1001/archneur.63.6.902
http://jamanetwork.com/journals/jamaneurology/fullarticle/791540

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8

Academic Journal

Investigating the role of melanin in UVA/UVB- and hydrogen peroxide-induced cellular and mitochondrial ROS production and mitochondrial DNA damage in human melanoma cells

المؤلفون: Swalwell, Helen, Latimer, Jennifer, Haywood, Rachel M., Birch-Machin, Mark A.

المصدر: Free Radical Biology and Medicine ; volume 52, issue 3, page 626-634 ; ISSN 0891-5849

الاتاحة: http://dx.doi.org/10.1016/j.freeradbiomed.2011.11.019
https://api.elsevier.com/content/article/PII:S0891584911012068?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0891584911012068?httpAccept=text/plain

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9

Academic Journal

Implications of using the fluorescent probes, dihydrorhodamine 123 and 2′,7′-dichlorodihydrofluorescein diacetate, for the detection of UVA-induced reactive oxygen species

المؤلفون: Boulton, Sarahjayne, Anderson, Alasdair, Swalwell, Helen, Henderson, James R., Manning, Philip, Birch-Machin, Mark A

المصدر: Free Radical Research ; volume 45, issue 2, page 115-122 ; ISSN 1071-5762 1029-2470

الاتاحة: http://dx.doi.org/10.3109/10715762.2010.517751
http://www.tandfonline.com/doi/pdf/10.3109/10715762.2010.517751

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10

Academic Journal

Direct, real-time monitoring of superoxide generation in isolated mitochondria

المؤلفون: Henderson, James R., Swalwell, Helen, Boulton, Sarahjayne, Manning, Philip, McNeil, Calum J., Birch-Machin, Mark A.

المصدر: Free Radical Research ; volume 43, issue 9, page 796-802 ; ISSN 1071-5762 1029-2470

الاتاحة: http://dx.doi.org/10.1080/10715760903062895
http://www.tandfonline.com/doi/pdf/10.1080/10715760903062895

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11

Academic Journal

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

المؤلفون: McFarland, Robert, Swalwell, Helen, Blakely, Emma L., He, Langping, Groen, Emma J., Turnbull, Douglass M., Bushby, Kate M., Taylor, Robert W.

المصدر: Neuromuscular Disorders ; volume 18, issue 1, page 63-67 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2007.07.007
https://api.elsevier.com/content/article/PII:S0960896607006803?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896607006803?httpAccept=text/plain

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12

Academic Journal

Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation

المؤلفون: Blakely, Emma L., Swalwell, Helen, Petty, Richard K. H., McFarland, Robert, Turnbull, Douglass M., Taylor, Robert W.

المصدر: Journal of Neurology ; volume 254, issue 9, page 1283-1285 ; ISSN 0340-5354 1432-1459

الاتاحة: http://dx.doi.org/10.1007/s00415-006-0490-7
http://link.springer.com/content/pdf/10.1007/s00415-006-0490-7.pdf
http://link.springer.com/article/10.1007/s00415-006-0490-7/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00415-006-0490-7

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13

Academic Journal

Implications of using the fluorescent probes, dihydrorhodamine 123 and 2′,7′-dichlorodihydrofluorescein diacetate, for the detection of UVA-induced reactive oxygen species.

المؤلفون: Boulton, Sarahjayne, Anderson, Alasdair, Swalwell, Helen, Henderson, James R., Manning, Philip, Birch-Machin, Mark A

المصدر: Free Radical Research; Feb2011, Vol. 45 Issue 2, p139-122, 8p

مصطلحات موضوعية: FLUORESCENCE, AMINES, FLUORESCEIN, ACETATES, REACTIVE oxygen species, KERATINOCYTES, OXIDATIVE stress

14

Academic Journal

Mitochondrial Transfer RNA^Phe Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia-Rigidity.

المؤلفون: Tim M. Young, Blakely, Emma L., Swalwell, Helen, Carter, Janet E., Kartsounis, Luke D., O'Donovan, Dominic G., Turnbull, Douglass M., Taylor, Robert W., de Silva, Rajith N.

المصدر: Archives of Neurology; Nov2010, Vol. 67 Issue 11, p1399-1402, 4p

15

Academic Journal

Pathogenic mitochondrial tRNA mutations - Which mutations are inherited and why?

المؤلفون: Elson, Joanna L., Swalwell, Helen, Blakely, Emma L., McFarland, Robert, Taylor, Robert W., Turnbull, Doug M.

المصدر: Human Mutation; Nov2009, Vol. 30 Issue 11, pE984-E992, 9p

16

Academic Journal

A New Mitochondrial Transfer RNA^Pro Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features.

المؤلفون: Blakely, Emma L., Trip, Anand, Swalwell, Helen, He, Langping, Wren, Damian R., Rich, Philip, Turnbull, Douglass M., Omer, Salah E., Taylor, Robert W.

المصدر: Archives of Neurology; Mar2009, Vol. 66 Issue 3, p399-402, 4p

17

Academic Journal

Novel Mitochondrial Transfer RNA^Phe Gene Mutation Associated With Late-Onset Neuromuscular Disease.

المؤلفون: Deschauer, Marcus, Swalwell, Helen, Strauss, Maria, Zierz, Stephan, Taylor, Robert W.

المصدر: Archives of Neurology; Jun2006, Vol. 63, p902-905, 4p

18

Academic Journal

Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNA^Lys mutation.

المؤلفون: Blakely, Emma L., Swalwell, Helen, Petty, Richard K. H., McFarland, Robert, Turnbull, Douglass M., Taylor, Robert W.

المصدر: Journal of Neurology; Sep2007, Vol. 254 Issue 9, p1283-1285, 3p, 1 Diagram, 1 Graph

مصطلحات موضوعية: LETTERS to the editor, MITOCHONDRIAL DNA

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