Turnbull, Taylor L.: search on Z-Library

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1

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement

J. Betts, E. Jaros, R. H. Perry, A. M. Schaefer, R. W. Taylor, Z. Abdel-All, R. N. Lightowlers, D. M. Turnbull

Journal:

Neuropathology and Applied Neurobiology

Year:

2006

Language:

english

File:

PDF, 991 KB

english, 2006

2

What causes mitochondrial DNA deletions in human cells?

Krishnan, Kim J, Reeve, Amy K, Samuels, David C, Chinnery, Patrick F, Blackwood, John K, Taylor, Robert W, Wanrooij, Sjoerd, Spelbrink, Johannes N, Lightowlers, Robert N, Turnbull, Doug M

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 644 KB

english, 2008

3

Scale Effect in Ice Flexural Strength

Aly, Mohamed, Taylor, Rocky, Bailey Dudley, Eleanor, Turnbull, Ian

Journal:

Journal of Offshore Mechanics and Arctic Engineering

Year:

2019

Language:

english

File:

PDF, 4.33 MB

english, 2019

4

P59 Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

R.W. Taylor, H. Swalwell, D.M. Kirby, E.L. Blakely, A. Mitchell, R. Salemi, C. Sugiana, A.G. Compton, E.J. Tucker, B.-X. Ke, P.J. Lamont, D.M. Turnbull, R. McFarland, D.R. Thorburn

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 41 KB

english, 2011

5

Identifying the Emergence of the Superficial Peroneal Nerve through Deep Fascia on Ultrasound and by Dissection: Implications for Regional Anaesthesia in Foot and Ankle Surgery

Bowness, James, Turnbull, Katie, Taylor, Alasdair, Halcrow, Jayne, Chisholm, Fraser, Grant, Calum, Varsou, Ourania

Journal:

Clinical Anatomy

Year:

2018

Language:

english

File:

PDF, 1.49 MB

english, 2018

6

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

Blakely, Emma L, de Silva, Rajith, King, Andrew, Schwarzer, Verena, Harrower, Tim, Dawidek, Gervase, Turnbull, Douglass M, Taylor, Robert W

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 131 KB

english, 2005

7

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits

Kate Craig, Matthew J. Young, Emma L. Blakely, Matthew J. Longley, Douglass M. Turnbull, William C. Copeland, Robert W. Taylor

Journal:

Year:

2012

Language:

english

File:

PDF, 679 KB

english, 2012

8

GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

Ilona Visapää, Vineta Fellman, Jouni Vesa, Ayan Dasvarma, Jenna L. Hutton, Vijay Kumar, Gregory S. Payne, Marja Makarow, Rudy Van Coster, Robert W. Taylor, Douglass M. Turnbull, Anu Suomalainen, Leena

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 826 KB

english, 2002

9

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

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

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 226 KB

english, 2004

10

Sensory nerve cell dysfunction contributes to peripheral neuropathy in mitochondrial disease

Nichola Z. Lax⁎, Amy K. Reeve, Philippa Hepplewhite, Evelyn Jaros, Robert W. Taylor, Doug M. Turnbull

Journal:

Year:

2011

Language:

english

File:

PDF, 72 KB

english, 2011

11

Predicting death from ruptured abdominal aortic aneurysms

York N Hsiang, Robert G Turnbull, Stephen C Nicholls, Kelly McCullough, Jerry C Chen, Ramesh Lokanathan, David C Taylor

Journal:

The American Journal of Surgery

Year:

2001

Language:

english

File:

PDF, 495 KB

english, 2001

12

Identification of Psychoplastogenic N , N -Dimethylaminoisotryptamine (isoDMT) Analogues through StructureâActivity Relationship Studies

Dunlap, Lee E., Azinfar, Arya, Ly, Calvin, Cameron, Lindsay P., Viswanathan, Jayashri, Tombari, Robert J., Myers-Turnbull, Douglas, Taylor, Jack C., Grodzki, Ana Cristina, Lein, Pamela J., Kokel, Davi

Journal:

Journal of Medicinal Chemistry

Year:

2020

File:

PDF, 2.58 MB

2020

13

Relative influences of the metocean forcings on the drifting ice pack and estimation of internal ice stress gradients in the Labrador Sea

Turnbull, I. D., Torbati, R. Z., Taylor, R. S.

Journal:

Journal of Geophysical Research Oceans

Year:

2017

Language:

english

File:

PDF, 20.64 MB

english, 2017

14

THE EARLIEST SHELL FISHHOOKS FROM THE AMERICAS REVEAL FISHING TECHNOLOGY OF PLEISTOCENE MARITIME FORAGERS

Des Lauriers, Matthew R., Davis, Loren G., Turnbull, J., Southon, John R., Taylor, R. E.

Journal:

American Antiquity

Year:

2017

File:

PDF, 1.22 MB

2017

15

Enhanced Confinement and Stability in DIII-D Discharges with Reversed Magnetic Shear

Strait, E. J., Lao, L. L., Mauel, M. E., Rice, B. W., Taylor, T. S., Burrell, K. H., Chu, M. S., Lazarus, E. A., Osborne, T. H., Thompson, S. J., Turnbull, A. D.

Journal:

Physical Review Letters

Year:

1995

Language:

english

File:

PDF, 299 KB

english, 1995

16

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis

Robert McFarland, Robert W. Taylor, Patrick F. Chinnery, Neil Howell, Douglass M. Turnbull

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 187 KB

english, 2004

17

A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis

P. F. Chinnery, M. A. Johnson, R. W. Taylor, R. N. Lightowlers, Prof. D. M. Turnbull

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 337 KB

english, 1997

18

Dysferlin mutations and mitochondrial dysfunction

Vincent, Amy E., Rosa, Hannah S., Alston, Charlotte L., Grady, John P., Rygiel, Karolina A., Rocha, Mariana C., Barres, Rita, Taylor, Robert W., Turnbull, Doug M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 822 KB

english, 2016

19

Vascular pathology in mitochondrial disease

Nichola Z. Lax⁎, Amy K. Reeve, Philippa Hepplewhite, Evelyn Jaros, Robert W. Taylor, Doug M. Turnbull

Journal:

Year:

2011

Language:

english

File:

PDF, 74 KB

english, 2011

20

Mitochondrial Donation — Which Women Could Benefit?

Pickett, Sarah J., Blain, Alasdair, Ng, Yi Shiau, Wilson, Ian J., Taylor, Robert W., McFarland, Robert, Turnbull, Doug M., Gorman, Gráinne S.

Journal:

New England Journal of Medicine

Year:

2019

Language:

english

File:

PDF, 73 KB

english, 2019

21

Role of Mitochondrial DNA Mutations in Disease and Aging

D. A. COTTRELL, E. L. BLAKELY, G. M. BORTHWICK, M. A. JOHNSON, G. A. TAYLOR, E. J. BRIERLEY, P. G. INCE, D. M. TURNBULL

Journal:

Annals of the New York Academy of Sciences

Year:

2000

Language:

english

File:

PDF, 1.20 MB

english, 2000

22

Distribution of and hydrographic controls on ferromanganese crusts: Tropic Seamount, Atlantic

Yeo, I.A., Howarth, S.A., Spearman, J., Cooper, A., Crossouard, N., Taylor, J., Turnbull, M., Murton, B.J.

Journal:

Ore Geology Reviews

Year:

2019

Language:

english

File:

PDF, 4.25 MB

english, 2019

23

Measurement and modelling of deep sea sediment plumes and implications for deep sea mining

Spearman, Jeremy, Taylor, Jonathan, Crossouard, Neil, Cooper, Alan, Turnbull, Michael, Manning, Andrew, Lee, Mark, Murton, Bramley

Journal:

Scientific Reports

Year:

2020

Language:

english

File:

PDF, 4.46 MB

english, 2020

24

Mitochondrial DNA mutations in human disease

Taylor, Robert W., Turnbull, Doug M.

Journal:

Nature Reviews Genetics

Year:

2005

Language:

english

File:

PDF, 857 KB

english, 2005

25

Mitochondrial DNA mutations and human disease

Helen A.L. Tuppen, Emma L. Blakely, Douglass M. Turnbull, Robert W. Taylor

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2010

Language:

english

File:

PDF, 999 KB

english, 2010

26

Chronic progressive external ophthalmoplegia — Disease mechanisms and clinical outcome measures

Griffiths, Philip G., Yu-Wai-Man, Cynthia, Smith, Fiona E., Firbank, Michael J., Guthrie, Grant, Guthrie, Stuart, Gorman, Grainne S., Taylor, Robert W., Turnbull, Douglass M., Blamire, Andrew M., Chin

Journal:

Year:

2013

Language:

english

File:

PDF, 76 KB

english, 2013

27

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

Agostino, A., Valletta, L., Chinnery, P.F., Ferrari, G., Carrara, F., Taylor, R.W., Schaefer, A.M., Turnbull, D.M., Tiranti, V., Zeviani, M.

Journal:

Year:

2003

Language:

english

File:

PDF, 358 KB

english, 2003

28

The Significance of Site of Cut in Self-Harm in Young People

Gardner, Kathryn Jane, Bickley, Harriet, Turnbull, Pauline, Kapur, Nav, Taylor, Peter, Clements, Caroline

Journal:

Journal of Affective Disorders

Year:

2020

Language:

english

File:

PDF, 1.26 MB

english, 2020

29

Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis

Andrew M. Schaefer, Emma L. Blakely, Philip G. Griffiths, Douglass M. Turnbull, Robert W. Taylor

Journal:

Year:

2005

Language:

english

File:

PDF, 113 KB

english, 2005

30

Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation

Killian O'Rourke, Mark R. Buddles, Michael Farrell, Rachel Howley, Sunita Sukuraman, Sean Connolly, Douglass M. Turnbull, Michael Hutchinson, Robert W. Taylor

Journal:

Year:

2009

Language:

english

File:

PDF, 157 KB

english, 2009

31

A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells

Kim J. Krishnan, Andreas Bender, Robert W. Taylor, Douglass M. Turnbull

Journal:

Analytical Biochemistry

Year:

2007

Language:

english

File:

PDF, 111 KB

english, 2007

32

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

Taylor, Amy, Brady, Angela F, Frayling, Ian M, Hanson, Helen, Tischkowitz, Marc, Turnbull, Clare, Side, Lucy

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 250 KB

english, 2018

33

Transforming support for students with disabilities in UK Higher Education

Taylor, Mark, Turnbull, Yvonne, Bleasdale, Jo, Francis, Hulya, Forsyth, Henry

Journal:

Support for Learning

Year:

2016

Language:

english

File:

PDF, 224 KB

english, 2016

34

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

R. W. Taylor, P. F. Chinnery, F. Haldane, A. A. M. Morris, L. A. Bindoff, Prof D. M. Turnbull, J. Wilson

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 430 KB

english, 1996

35

Mitochondrial tRNA mutations – which can be inherited and why?

J.L. Elson, H. Swalwell, R. McFarland, R.W. Taylor, D.M. Turnbull

Journal:

New Biotechnology

Year:

2010

Language:

english

File:

PDF, 68 KB

english, 2010

36

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

Hudson, G., Deschauer, M., Taylor, R. W., Hanna, M. G., Fialho, D., Schaefer, A. M., He, L. -P., Blakely, E., Turnbull, D. M., Chinnery, P. F.

Journal:

Year:

2006

Language:

english

File:

PDF, 270 KB

english, 2006

37

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease

van der Walt, Elizna M, Smuts, Izelle, Taylor, Robert W, Elson, Joanna L, Turnbull, Douglass M, Louw, Roan, van der Westhuizen, Francois H

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 302 KB

english, 2012

38

Insulin Sensitivity and Mitochondrial Gene Mutation

Walker, M., Taylor, R. W., Stewart, M. W., Bindoff, L. A., Jackson, M. J., Alberti, G. K. M. M., Turnbull, D. M.

Journal:

Year:

1995

Language:

english

File:

PDF, 261 KB

english, 1995

39

CSIG-10. SHH-MEDULLOBLASTOMA PREFERENTIALLY ARISES FROM GRANULE CELL PRECURSORS IN THE LATERAL CEREBELLUM

Tan, I-Li, Wojcinski, Alexandre, Rallapalli, Harikrishna, Volkova, Eugenia, Remke, Marc, Korshunov, Andrey, Turnbull, Daniel, Taylor, Michael, Joyner, Alexandra

Journal:

Year:

2016

Language:

english

File:

PDF, 49 KB

english, 2016

40

Using a quantitative quadruple immunofluorescent assay to detect isolated Complex I deficiency

Ahmed, S.T., Hopton, S., He, L., Alston, C.L., Hargreaves, I.P., Falkous, G., Rocha, M.C., Turnbull, D.M., Taylor, R.W.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 128 KB

english, 2017

41

Autologous Mesenchymal Stem Cell and Islet Cotransplantation: Safety and Efficacy

Wang, Hongjun, Strange, Charlie, Nietert, Paul J., Wang, Jingjing, Turnbull, Taylor L., Cloud, Colleen, Owczarski, Stefanie, Shuford, Betsy, Duke, Tara, Gilkeson, Gary, Luttrell, Louis, Hermayer, Kath

Journal:

Stem Cells Translational Medicine

Year:

2017

Language:

english

File:

PDF, 514 KB

english, 2017

42

Lateral cerebellum is preferentially sensitive to high sonic hedgehog signaling and medulloblastoma formation

Tan, I-Li, Wojcinski, Alexandre, Rallapalli, Harikrishna, Lao, Zhimin, Sanghrajka, Reeti M., Stephen, Daniel, Volkova, Eugenia, Korshunov, Andrey, Remke, Marc, Taylor, Michael D., Turnbull, Daniel H.,

Journal:

Proceedings of the National Academy of Sciences

Year:

2018

Language:

english

File:

PDF, 1.75 MB

english, 2018

43

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

Boal, Rachel L, Ng, Yi Shiau, Pickett, Sarah J, Schaefer, Andrew M, Feeney, Catherine, Bright, Alexandra, Taylor, Robert W, Turnbull, Doug M, Gorman, Grainne S, Cheetham, Tim, McFarland, Robert

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2019

Language:

english

File:

PDF, 288 KB

english, 2019

44

Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy

A. A. M. Morris, R. E. Appleton, B. Power, D. M. Isherwood, L. J. Abernethy, R. W. Taylor, D. M. Turnbull, N. M. Verhoeven, G. S. Salomons, C. Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 136 KB

english, 2007

45

A novel point mutation in the mitochondrial tRNATrp gene produces a neurogastrointestinal syndrome

Maniura-Weber, Katharina, Taylor, Robert W, Johnson, Margaret A, Chrzanowska-Lightowlers, Zofia, Morris, Andrew A M, Charlton, Charles P J, Turnbull, Douglass M, Bindoff, Laurence A

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 125 KB

english, 2004

46

G.P.3.06 Neuromuscular disease presentation with three genetic defects involving two genomes: The characterisation of a novel mitochondrial tRNA mutation exhibiting skewed segregation

M. Al-Dosary, R. Whittaker, J. Hood, R. McFarland, J.A. Goodship, D.M. Turnbull, R.W. Taylor

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

47

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

Marcus Deschauer, Reinhard Kiefer, Emma L. Blakely, Langping He, Stephan Zierz, Douglass M. Turnbull, Robert W. Taylor

Journal:

Neuromuscular Disorders

Year:

2003

Language:

english

File:

PDF, 162 KB

english, 2003

48

Coincident imaging and spectrometric observations of zenith OH nightglow structure

Taylor, M. J., Turnbull, D. N., Lowe, R. P.

Journal:

Geophysical Research Letters

Year:

1991

Language:

english

File:

PDF, 426 KB

english, 1991

49

[IEEE 2009 International Conference on Availability, Reliability and Security - Fukuoka, Japan (2009.03.16-2009.03.19)] 2009 International Conference on Availability, Reliability and Security - The Anatomy of Electronic Evidence Quantitative Analysis of Police E-Crime Data

Turnbull, Benjamin, Taylor, Robert, Blundell, Barry

Year:

2009

Language:

english

File:

PDF, 425 KB

english, 2009

50

Maternally inherited mitochondrial DNA disease in consanguineous families

Alston, Charlotte L, He, Langping, Morris, Andrew A, Hughes, Imelda, Goede, Christian de, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 238 KB

english, 2011

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