Shoubridge, E. A. : rechercher sur Z-Library

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1

Graph distances using graph union

W.D. Wallis, P. Shoubridge, M. Kraetz, D. Ray

Journal:

Pattern Recognition Letters

Année:

2001

Langue:

english

Fichier:

PDF, 63 KB

english, 2001

2

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Laumonnier, F, Shoubridge, C, Antar, C, Nguyen, L S, Van Esch, H, Kleefstra, T, Briault, S, Fryns, J P, Hamel, B, Chelly, J

Journal:

Molecular Psychiatry

Année:

2009

Langue:

english

Fichier:

PDF, 491 KB

english, 2009

3

Nuclear Gene Defects in Respiratory Chain Disorders

Shoubridge, Eric A.

Journal:

Seminars in Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 81 KB

english, 2001

4

BrainPhys neuronal medium optimized for imaging and optogenetics in vitro

Zabolocki, Michael, McCormack, Kasandra, van den Hurk, Mark, Milky, Bridget, Shoubridge, Andrew P., Adams, Robert, Tran, Jenne, Mahadevan-Jansen, Anita, Reineck, Philipp, Thomas, Jacob, Hutchinson, Ma

Journal:

Nature Communications

Année:

2020

Fichier:

PDF, 3.70 MB

2020

5

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

Wai, Timothy, Teoli, Daniella, Shoubridge, Eric A

Journal:

Nature Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 842 KB

english, 2008

6

Manipulating heteroplasmy by delivering restriction endonuclease to mitochondria in a “differential multiple cleavage-site” model

Sandra R. Bacman, Sion L. Williams, Dayami Hernandez, Brendan J. Battersby, Eric A. Shoubridge, Carlos T. Moraes

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 41 KB

english, 2006

7

Cloning a novel mitochondrial protein which regulates tissue-specific mtDNA segregation

Riikka Jokinen⁎, Paula Marttinen, Katarin Sandell, Tuula Manninen, Heli Teerenhovi, Timothy Wai, Daniella Teoli, J.C. Loredo-Osti, Eric A. Shoubridge, Brendan J. Battersby

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 72 KB

english, 2011

8

Biogenesis of the mitochondrial respiratory chain in children with severe multiorgan disorders

Reetta Hinttala, Johanna Uusimaa, Hana Antonicka, Hannaleena Kokkonen, Jukka S. Moilanen, Heikki Rantala, Kari Majamaa, Eric A. Shoubridge

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 58 KB

english, 2012

9

CCDC90A (MCUR1) Is a Cytochrome c Oxidase Assembly Factor and Not a Regulator of the Mitochondrial Calcium Uniporter

Paupe, Vincent, Prudent, Julien, Dassa, Emmanuel P., Rendon, Olga Zurita, Shoubridge, Eric A.

Journal:

Cell Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 2.20 MB

english, 2015

10

ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons

Lee, K., Ireland, K., Bleeze, M., Shoubridge, C.

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 2.66 MB

english, 2017

11

Repopulation of ρ0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction

Sandeep Raha, Frank Merante, Eric Shoubridge, A. Tomoko Myint, Ingrid Tein, Lee Benson, Tim Johns, Brian H. Robinson

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 475 KB

english, 1999

12

Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree

François Dubeau, Nicola De Stefano, Benjamin G. Zifkin, Douglas L. Arnold, Eric A. Shoubridge

Journal:

Annals of Neurology

Année:

2000

Langue:

english

Fichier:

PDF, 312 KB

english, 2000

13

Cytochrome c oxidase deficiency

Eric A. Shoubridge

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 124 KB

english, 2001

14

Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects

Tanja Taivassalo, Eric A. Shoubridge, Jacqueline Chen, Nancy G. Kennaway, Salvatore DiMauro, Douglas L. Arnold, Ronald G. Haller

Journal:

Annals of Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 144 KB

english, 2001

15

In vivo magnetic resonance spectroscopy of brain and muscle in a type of mitochondrial encephalomyopathy (MERRF)

P. M. Matthews, S. F. Berkovic, E. A. Shoubridge, F. Andermann, G. Karpati, S. Carpenter, Dr D. L. Arnold

Journal:

Annals of Neurology

Année:

1991

Langue:

english

Fichier:

PDF, 460 KB

english, 1991

16

Mitochondrial dysfunction in multiple symmetrical lipomatosis

Samuel F. Berkovic, Frederick Andermann, Eric A. Shoubridge, Stirling Carpenter, Yvon Robitaille, Dr Eva Andermann, Calvin Melmed, George Karpati

Journal:

Annals of Neurology

Année:

1991

Langue:

english

Fichier:

PDF, 424 KB

english, 1991

17

Myoblast transfer in duchenne muscular dystrophy

Dr. George Karpati, Djordje Ajdukovic, Douglas Arnold, Robert B. Gledhill, Ronald Guttmann, Paul Holland, Penelope A. Koch, Eric Shoubridge, Desmond Spence, Michel Vanasse, Gordon V. Watters, Michael

Journal:

Annals of Neurology

Année:

1993

Langue:

english

Fichier:

PDF, 1006 KB

english, 1993

18

Late-onset mitochondrial myopathy

Wendy Johnston, Dr. George Karpati, Stirling Carpenter, Douglas Arnold, Eric A. Shoubridge

Journal:

Annals of Neurology

Année:

1995

Langue:

english

Fichier:

PDF, 879 KB

english, 1995

19

Reply

George Karpati, Eric Shoubridge

Journal:

Annals of Neurology

Année:

1995

Langue:

english

Fichier:

PDF, 119 KB

english, 1995

20

Autosomal dominant chronic progressive external ophthalmoplegia: A tale of two genomes

Eric A. Shoubridge

Journal:

Annals of Neurology

Année:

1996

Langue:

english

Fichier:

PDF, 229 KB

english, 1996

21

Mitochondrial biogenesis: Which part of “NO” do we understand?

Scot C. Leary, Eric. A. Shoubridge

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 105 KB

english, 2003

22

Mitochondrial genetics and human disease

Lawrence I. Grossman, Eric A. Shoubridge

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 1.26 MB

english, 1996

23

ARX spectrum disorders: making inroads into the molecular pathology

Cheryl Shoubridge, Tod Fullston, Jozef Gécz

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 397 KB

english, 2010

24

Alkalosis monitored by 31P NMR in a human glioma cell line exposed to the anti-tumor drug 1, 3-bis (2-chloroethyl)-1-nitrosourea

Fernando Commodari, Bryan C. Sanctuary, William Feindel, Eric A. Shoubridge

Journal:

Magnetic Resonance in Medicine

Année:

1991

Langue:

english

Fichier:

PDF, 570 KB

english, 1991

25

Proton and phosphorus magnetic resonance spectroscopy of human astrocytomas in vivo. Preliminary observations on tumor grading

D. L. Arnold, E. A. Shoubridge, J.-G. Villemure, W. Feindel

Journal:

NMR in Biomedicine

Année:

1990

Langue:

english

Fichier:

PDF, 612 KB

english, 1990

26

1H NMR characterization of normal human cerebrospinal fluid and the detection of methylmalonic acid in a vitamin B12 deficient patient

Fernando Commodari, Douglas L. Arnold, Bryan C. Sanctuary, Eric A. Shoubridge

Journal:

NMR in Biomedicine

Année:

1991

Langue:

english

Fichier:

PDF, 951 KB

english, 1991

27

Intracellular Calcium Dynamics and Cellular Energetics in Ischemic NG108-15 Cells Studied by Concurrent 31P/19F and 23Na Double-Quantum Filtered NMR Spectroscopy

Joseph S. Tauskela, Eric A. Shoubridge

Journal:

Journal of Neurochemistry

Année:

1996

Langue:

english

Fichier:

PDF, 1.07 MB

english, 1996

28

Unusual Imaging Findings in Progressive Myoclonus Epilepsy

R. A. Marrie, E. A. Shoubridge, J. P. Antel, D. L. Arnold, J. Chen, E. Andermann, F. Andermann

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 177 KB

english, 2001

29

Mitochondrial DNA diseases: Histological and cellular studies

Eric A. Shoubridge

Journal:

Journal of Bioenergetics and Biomembranes

Année:

1994

Langue:

english

Fichier:

PDF, 3.16 MB

english, 1994

30

Leber’s hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS

R. Horváth, A. Abicht, E. A. Shoubridge, V. Karcagi, C. Rózsa, S. Komoly, H. Lochmüller

Journal:

Journal of Neurology

Année:

2000

Langue:

english

Fichier:

PDF, 142 KB

english, 2000

31

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

Lane J. Jaeckle Santos, Chao Xing, Robert B. Barnes, Lesley C. Ades, Andre Megarbane, Christopher Vidal, Angela Xuereb, Patrick S. Tarpey, Raffaella Smith, Mahmoud Khazab, Cheryl Shoubridge, Michael P

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 378 KB

english, 2008

32

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

A. Poyau, K. Buchet, M. Fouad Bouzidi, M.-T. Zabot, B. Echenne, J. Yao, E.A. Shoubridge, C. Godinot

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 639 KB

english, 2000

33

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

T Fullston, M Finnis, A Hackett, B Hodgson, L Brueton, G Baynam, A Norman, O Reish, C Shoubridge, J Gecz

Journal:

Clinical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 9.56 MB

english, 2011

34

10.1038/3804

Shoubridge, Eric A., Zhu, Zhiqing, Yao, Jianbo, Johns, Timothy, Fu, Katherine, Bie, Isabelle De, Macmillan, Carol, Cuthbert, Andrew P., Newbold, Robert F., Wang, Jia-chi, Chevrette, Mario, Brown, Garr

Journal:

Nature Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 424 KB

english, 1998

35

Developmental biology: Asexual healing

Shoubridge, Eric A.

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 1.98 MB

english, 2009

36

A debut for mito-mouse

Shoubridge, Eric A

Journal:

Nature Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 780 KB

english, 2000

37

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Dibbens, Leanne M, Tarpey, Patrick S, Hynes, Kim, Bayly, Marta A, Scheffer, Ingrid E, Smith, Raffaella, Bomar, Jamee, Sutton, Edwina, Vandeleur, Lucianne, Shoubridge, Cheryl

Journal:

Nature Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 955 KB

english, 2008

38

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Tarpey, Patrick S, Abidi, Fatima, Ramsden, Sarah L, Rujirabanjerd, Sinitdhorn, Murphy, Jessica A, Boyle, Jackie, Shaw, Marie, Gardner, Alison, Proos, Anne, Shoubridge, Cheryl

Journal:

Nature Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 384 KB

english, 2010

39

Reactive oxygen species and the segregation of mtDNA sequence variants

Battersby, Brendan J, Shoubridge, Eric A

Journal:

Nature Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 90 KB

english, 2007

40

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

Jenuth, Jack P., Peterson, Alan C., Shoubridge, Eric A.

Journal:

Nature Genetics

Année:

1997

Fichier:

PDF, 294 KB

1997

41

Reply to “Reassessing evidence for a postnatal mitochondrial genetic bottleneck”

Wai, Timothy, Shoubridge, Eric A

Journal:

Nature Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 177 KB

english, 2010

42

The ABcs of mitochondrial transcription

Shoubridge, Eric A.

Journal:

Nature Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 94 KB

english, 2002

43

Nuclear genetic control of mitochondrial DNA segregation

Battersby, Brendan J., Loredo-Osti, J.C., Shoubridge, Eric A.

Journal:

Nature Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 117 KB

english, 2003

44

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA

Jenuth, Jack P., Peterson, Alan C., Fu, Katherine, Shoubridge, Eric A.

Journal:

Nature Genetics

Année:

1996

Fichier:

PDF, 577 KB

1996

45

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Tarpey, Patrick S, Lucy Raymond, F, Nguyen, Lam S, Rodriguez, Jayson, Hackett, Anna, Vandeleur, Lucianne, Smith, Raffaella, Shoubridge, Cheryl, Edkins, Sarah, Stevens, Claire

Journal:

Nature Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 375 KB

english, 2007

46

Aplastic anaemia in association with Kearns_Sayre syndrome

T. F. Leung, J. Hui, E. Shoubridge, C. K. Li, K. W. Chik, M. M. K. Shing, G. W. K. Wong, W. L. Yeung, P. M. P. Yuen

Journal:

Journal of Inherited Metabolic Disease

Année:

1999

Langue:

english

Fichier:

PDF, 36 KB

english, 1999

47

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

Florin Sasarman, Tamiko Nishimura, Isabelle Thiffault, Eric A. Shoubridge

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 365 KB

english, 2012

48

Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

Jessie M. Cameron, Alexandre Janer, Valeriy Levandovskiy, Nevena MacKay, Tracey A. Rouault, Wing-Hang Tong, Isla Ogilvie, Eric A. Shoubridge, Brian H. Robinson

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2011

49

Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

Woranontee Weraarpachai, Florin Sasarman, Tamiko Nishimura, Hana Antonicka, Karine Auré, Agnès Rötig, Anne Lombès, Eric A. Shoubridge

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2012

50

Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson–Forssman–Lehmann Syndrome of intellectual disability and obesity

Anne K. Voss, Robin Gamble, Caitlin Collin, Cheryl Shoubridge, Mark Corbett, Jozef Gécz, Tim Thomas

Journal:

Gene Expression Patterns

Année:

2007

Langue:

english

Fichier:

PDF, 7.30 MB

english, 2007