نتائج البحث - "Kirby, Denise M"

المصدر: Abramov , A Y , Smulders-Srinivasan , T K , Kirby , D M , Acin-Perez , R , Enriquez , J A , Lightowlers , R N , Duchen , M R & Turnbull , D M 2010 , ' Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations ' , Brain , vol. 133 , no. 3 , pp. 797-807 . https://doi.org/10.1093/brain/awq015

الاتاحة: https://research.tees.ac.uk/en/publications/39346b25-d569-4f28-908f-f6e917564ba6
https://doi.org/10.1093/brain/awq015
http://www.scopus.com/inward/record.url?scp=77950221314&partnerID=8YFLogxK

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4

Academic Journal

Mitochondrial DNA mutations affect calcium handling in differentiated neurons

المؤلفون: Trevelyan, Andrew J., Kirby, Denise M., Smulders-Srinivasan, Tora K., Nooteboom, Marco, Acin-Perez, Rebeca, Enriquez, JoséAntonio, Whittington, Miles A., Lightowlers, Robert N., Turnbull, Doug M.

مصطلحات موضوعية: Original Articles

وصف الملف: text/html

Relation: http://brain.oxfordjournals.org/cgi/content/short/awq023v1; http://dx.doi.org/10.1093/brain/awq023

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/awq023v1
https://doi.org/10.1093/brain/awq023

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5

Academic Journal

Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

المؤلفون: Sugiana, Canny, Pagliarini, David J., McKenzie, Matthew, Kirby, Denise M., Salemi, Renato, Abu-Amero, Khaled K., Dahl, Hans-Henrik M., Hutchison, Wendy M., Vascotto, Katherine A., Smith, Stacey M., Newbold, Robert F., Christodoulou, John, Calvo, Sarah, Mootha, Vamsi K., Ryan, Michael T., Thorburn, David R.

المصدر: The American Journal of Human Genetics ; volume 83, issue 4, page 468-478 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2008.09.009
https://api.elsevier.com/content/article/PII:S0002929708004990?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929708004990?httpAccept=text/plain

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6

Academic Journal

Decreased activities of mitochondrial respiratory chain complexes in non‐mitochondrial respiratory chain diseases

المؤلفون: MBBS, Joannie Hui, Kirby, Denise M, Thorburn, David R, Boneh, A vihu

المصدر: Developmental Medicine & Child Neurology ; volume 48, issue 2, page 132-136 ; ISSN 0012-1622 1469-8749

الاتاحة: http://dx.doi.org/10.1017/s0012162206000284
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1017%2FS0012162206000284
https://onlinelibrary.wiley.com/doi/pdf/10.1017/S0012162206000284

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7

Academic Journal

Clinical and Molecular Features of Encephalomyopathy Due to the A3302G Mutation in the Mitochondrial tRNALeu(UUR) Gene

المؤلفون: Hutchison, Wendy M., Thyagarajan, Dominic, Poulton, Joanna, Marchington, David R., Kirby, Denise M., Manji, Shehnaaz S. M., Dahl, Hans-Henrik M.

المصدر: Archives of Neurology ; volume 62, issue 12, page 1920 ; ISSN 0003-9942

الاتاحة: http://dx.doi.org/10.1001/archneur.62.12.1920
http://jamanetwork.com/journals/jamaneurology/fullarticle/789996

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8

Academic Journal

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders

المؤلفون: Thorburn, David R., Sugiana, Canny, Salemi, Renato, Kirby, Denise M., Worgan, Lisa, Ohtake, Akira, Ryan, Michael T.

المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics ; volume 1659, issue 2-3, page 121-128 ; ISSN 0005-2728

الاتاحة: http://dx.doi.org/10.1016/j.bbabio.2004.08.006
https://api.elsevier.com/content/article/PII:S0005272804002439?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0005272804002439?httpAccept=text/plain

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9

Academic Journal

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy

المؤلفون: Bruno, Claudio, Kirby, Denise M., Koga, Yasutoshi, Garavaglia, Barbara, Duran, Gloria, Santorelli, Filippo M., Shield, Lloyd K., Xia, Wenlang, Shanske, Sara, Goldstein, Jeffrey D., Iwanaga, Rikako, Akita, Yukihiro, Carrara, Franco, Davis, Andrew, Zeviani, Massimo, Thorburn, David R., DiMauro, Salvatore

المصدر: The Journal of Pediatrics ; volume 135, issue 2, page 197-202 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/s0022-3476(99)70022-3
https://api.elsevier.com/content/article/PII:S0022347699700223?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022347699700223?httpAccept=text/plain

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10

Book

Biochemical Assays of Respiratory Chain Complex Activity

المؤلفون: Kirby, Denise M., Thorburn, David R., Turnbull, Douglass M., Taylor, Robert W.

المصدر: Mitochondria, 2nd Edition ; Methods in Cell Biology ; page 93-119 ; ISSN 0091-679X

الاتاحة: http://dx.doi.org/10.1016/s0091-679x(06)80004-x

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11

Academic Journal

Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis

المؤلفون: Marotta, Rosetta, Chin, Judy, Kirby, Denise M., Chiotis, Maria, Cook, Mark, Collins, Steven J.

المصدر: Journal of Clinical Neuroscience ; volume 18, issue 2, page 290-292 ; ISSN 0967-5868

الاتاحة: http://dx.doi.org/10.1016/j.jocn.2010.06.001
https://api.elsevier.com/content/article/PII:S0967586810004005?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0967586810004005?httpAccept=text/plain

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12

Academic Journal

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

المؤلفون: Calvo, Sarah E, Tucker, Elena J, Compton, Alison G, Kirby, Denise M, Crawford, Gabriel, Burtt, Noel P, Rivas, Manuel, Guiducci, Candace, Bruno, Damien L, Goldberger, Olga A, Redman, Michelle C, Wiltshire, Esko, Wilson, Callum J, Altshuler, David, Gabriel, Stacey B, Daly, Mark J, Thorburn, David R, Mootha, Vamsi K

المصدر: Nature Genetics ; volume 42, issue 10, page 851-858 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/ng.659
http://www.nature.com/articles/ng.659.pdf
http://www.nature.com/articles/ng.659

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13

Academic Journal

Approaches to Finding the Molecular Basis of Mitochondrial Oxidative Phosphorylation Disorders

المؤلفون: Kirby, Denise M., Thorburn, David R.

المصدر: Twin Research and Human Genetics ; volume 11, issue 4, page 395-411 ; ISSN 1832-4274 1839-2628

الاتاحة: http://dx.doi.org/10.1375/twin.11.4.395
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S183242740000921X

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14

Academic Journal

Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions

المؤلفون: Wilcox, Robert A., Churchyard, Andrew, Dahl, Henrik H., Hutchison, Wendy M., Kirby, Denise M., Thyagarajan, Dominic

المصدر: Movement Disorders ; volume 22, issue 7, page 1020-1023 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.21416
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.21416
https://onlinelibrary.wiley.com/doi/full/10.1002/mds.21416

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15

Academic Journal

Severe Holocarboxylase Synthetase Deficiency with Incomplete Biotin Responsiveness Resulting in Antenatal Insult in Samoan Neonates

المؤلفون: Wilson, Callum J., Myer, Michael, Darlow, Brian A., Stanley, Thorsten, Thomson, Glen, Baumgartner, E. Regula, Kirby, Denise M., Thorburn, David R.

المصدر: The Journal of Pediatrics ; volume 147, issue 1, page 115-118 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/j.jpeds.2005.03.006
https://api.elsevier.com/content/article/PII:S0022347605001988?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022347605001988?httpAccept=text/plain

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16

Academic Journal

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

المؤلفون: Kirby, Denise M., Salemi, Renato, Sugiana, Canny, Ohtake, Akira, Parry, Lee, Bell, Katrina M., Kirk, Edwin P., Boneh, Avihu, Taylor, Robert W., Dahl, Hans-Henrik M., Ryan, Michael T., Thorburn, David R.

مصطلحات موضوعية: QH426 Genetics

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/47423/1/Kirby%202004.pdf; Kirby, Denise M., Salemi, Renato, Sugiana, Canny, Ohtake, Akira, Parry, Lee https://orca.cardiff.ac.uk/view/cardiffauthors/A061410U.html orcid:0000-0002-4467-9196 orcid:0000-0002-4467-9196, Bell, Katrina M., Kirk, Edwin P., Boneh, Avihu, Taylor, Robert W., Dahl, Hans-Henrik M., Ryan, Michael T. and Thorburn, David R. 2004. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. The Journal of Clinical Investigation 114 (6) , pp. 837-845. 10.1172/JCI200420683 https://doi.org/10.1172/JCI200420683 file https://orca.cardiff.ac.uk/id/eprint/47423/1/Kirby%202004.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/47423/
https://doi.org/10.1172/JCI200420683
https://orca.cardiff.ac.uk/id/eprint/47423/1/Kirby%202004.pdf

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17

Academic Journal

Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice

المؤلفون: Sarsero, Joseph P., Li, Lingli, Holloway, Timothy P., Voullaire, Lucille, Gazeas, Sophie, Fowler, Kerry J., Kirby, Denise M., Thorburn, David R., Galle, Adam, Cheema, Surindar, Koenig, Michel, Williamson, Robert, Ioannou, Panos A.

المساهمون: University of Melbourne, Murdoch Children’s Research Institute Melbourne, Australia, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0938-8990.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/15170226; hal-04130411; https://hal.science/hal-04130411; PUBMED: 15170226

الاتاحة: https://hal.science/hal-04130411
https://doi.org/10.1007/s00335-004-3019-3

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18

Academic Journal

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

المؤلفون: McFarland, Robert, Kirby, Denise M., Fowler, Kerry J., Ohtake, Akira, Ryan, Michael T., Amor, David J., Fletcher, Janice M., Dixon, Joanne W., Collins, Felicity A., Turnbull, Douglass M., Taylor, Robert W., Thorburn, David R.

المصدر: Annals of Neurology ; volume 55, issue 1, page 58-64 ; ISSN 0364-5134 1531-8249

الاتاحة: http://dx.doi.org/10.1002/ana.10787
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.10787
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.10787

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19

Academic Journal

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease

المؤلفون: Kirby, Denise M., Boneh, Avihu, Chow, C. W., Ohtake, Akira, Ryan, Michael T., Thyagarajan, Dominic, Thorburn, David R.

المصدر: Annals of Neurology ; volume 54, issue 4, page 473-478 ; ISSN 0364-5134 1531-8249

الاتاحة: http://dx.doi.org/10.1002/ana.10687
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.10687
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.10687

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20

Academic Journal

Flow cytometry in the study of mitochondrial respiratory chain disorders

المؤلفون: Setterfield, Karen, Williams, Andrew J., Donald, Jennifer, Thorburn, David R., Kirby, Denise M., Trounce, Ian, Christodoulou, John

المصدر: Setterfield , K , Williams , A J , Donald , J , Thorburn , D R , Kirby , D M , Trounce , I & Christodoulou , J 2002 , ' Flow cytometry in the study of mitochondrial respiratory chain disorders ' , Mitochondrion , vol. 1 , no. 5 , pp. 437-445 . https://doi.org/10.1016/S1567-7249(02)00008-9

الاتاحة: https://researchers.mq.edu.au/en/publications/19ad12fb-1521-4468-956d-5a927f7ce0ca
https://doi.org/10.1016/S1567-7249(02)00008-9
http://www.scopus.com/inward/record.url?scp=0036239449&partnerID=8YFLogxK

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