Laurence A Bindoff : rechercher sur Z-Library

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1

Mitochondrial complex IV is lost in neurons in the cuprizone mouse model

Varhaug, Kristin N., Kråkenes, Torbjørn, Alme, Maria N., Vedeler, Christian A., Bindoff, Laurence A.

Journal:

Année:

2020

Langue:

english

Fichier:

PDF, 1.60 MB

english, 2020

2

Late-onset mitochondrial disorder with electromyographic evidence of myotonia

Mathew L.P. Howse, Theresa M. Wardell, Christopher J. Fisher, Peter J.B. Tilley, Patrick F. Chinnery, Laurence Bindoff

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 115 KB

english, 2003

3

Duplications of mitochondrial DNA in Kearns–Sayre syndrome

Dr. Joanna Poulton, Dr. Karl J. Morten, Dr. David Marchington, Dr. Katharin Weber, Dr. Garry K. Brown, Dr. Agnès Rötig, Dr. Laurence Bindoff

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 493 KB

english, 1995

4

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

Enrico Baruffini, Rita Horvath, Cristina Dallabona, Birgit Czermin, Eleonora Lamantea, Laurence Bindoff, Federica Invernizzi, Iliana Ferrero, Massimo Zeviani, Tiziana Lodi

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 430 KB

english, 2011

5

Correlation between Genetic and Geographic Structure in Europe

Oscar Lao, Timothy T. Lu, Michael Nothnagel, Olaf Junge, Sandra Freitag-Wolf, Amke Caliebe, Miroslava Balascakova, Jaume Bertranpetit, Laurence A. Bindoff, David Comas, Gunilla Holmlund, Anastasia Kou

Journal:

Current Biology

Année:

2008

Langue:

english

Fichier:

PDF, 573 KB

english, 2008

6

Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population

Novin Balafkan, Charalampos Tzoulis, Bernd Müller, Kristoffer Haugarvoll, Ole-Bjørn Tysnes, Jan Petter Larsen, Laurence A. Bindoff

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 221 KB

english, 2012

7

Nonrandom tissue distribution of mutant mtDNA

Chinnery, Patrick F., Zwijnenburg, Petra J.G., Walker, Mark, Howell, Neil, Taylor, Robert W., Lightowlers, Robert N., Bindoff, Laurence, Turnbull, Douglass M.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 201 KB

english, 1999

8

Cytochrome c oxidase activity in single muscle fibers: Assay techniques and diagnostic applications

Dr. Margaret A. Johnson, Laurence A. Bindoff, Douglass M. Turnbull

Journal:

Annals of Neurology

Année:

1993

Langue:

english

Fichier:

PDF, 858 KB

english, 1993

9

Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia

Robert W. Taylor, Mark A. Birch-Machin, Jochen Schaefer, Louise Taylor, Raad Shakir, Brian A. C. Ackrell, Bruce Cochran, Laurence A. Bindoff, Margaret J. Jackson, Philip Griffiths, Prof Douglass M. Tu

Journal:

Annals of Neurology

Année:

1996

Langue:

english

Fichier:

PDF, 941 KB

english, 1996

10

Palatal tremor and facial dyskinesia in a patient with POLG1 mutation

Krisztina K. Johansen, Laurence A. Bindoff, Jana Rydland, Jan O. Aasly

Journal:

Movement Disorders

Année:

2008

Langue:

english

Fichier:

PDF, 378 KB

english, 2008

11

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain

Andrew A. M. Morris, Robert W. Taylor, Mark A. Birch-Machin, Margaret J. Jackson, Malcolm G. Coulthard, Laurence A. Bindoff, Robert J. Welch, Neil Howell, Douglass M. Turnbull

Journal:

Pediatric Nephrology

Année:

1995

Langue:

english

Fichier:

PDF, 563 KB

english, 1995

12

Two Norwegian sisters with late onset Creutzfeldt-Jakob disease caused by the E200K mutation

Elisabeth Farbu, Ole-Bjørn Tysnes, Sverre Mørk, Bård K. Krossnes, Laurence A. Bindoff

Journal:

Journal of Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 182 KB

english, 2007

13

A family with atypical CADASIL

Christian Vedeler, Laurence Bindoff

Journal:

Journal of Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 1.62 MB

english, 2011

14

Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in theDARS2gene

Charalampos Tzoulis, Gia Tuong Tran, Ivar Otto Gjerde, Jan Aasly, Gesche Neckelmann, Jana Rydland, Viktoria Varga, Pia Wadel-Andersen, Laurence A. Bindoff

Journal:

Journal of Neurology

Année:

2012

Langue:

english

Fichier:

PDF, 327 KB

english, 2012

15

Mitochondrial function and pathology in status epilepticus

Laurence A. Bindoff

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 35 KB

english, 2011

16

An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

Lu, Timothy Tehua, Lao, Oscar, Nothnagel, Michael, Junge, Olaf, Freitag-Wolf, Sandra, Caliebe, Amke, Balascakova, Miroslava, Bertranpetit, Jaume, Bindoff, Laurence Albert, Comas, David

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 584 KB

english, 2009

17

Reversal of a mitochondrial DNA defect in human skeletal muscle

Clark, Kim M., Bindoff, Laurence A., Lightowlers, Robert N., Andrews, Richard M., Griffiths, Philip G., Johnson, Margaret A., Brierley, Elizabeth J., Turnbull, Douglass M.

Journal:

Nature Genetics

Année:

1997

Fichier:

PDF, 412 KB

1997

18

10.1038/ng571

Curtis, Andrew R.J., Fey, Constanze, Morris, Christopher M, Bindoff, Laurence A., Ince, Paul G., Chinnery, Patrick F., Coulthard, Alan, Jackson, Margaret J., Jackson, Andrew P., McHale, Duncan P., Hay

Journal:

Nature Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 1.21 MB

english, 2001

19

A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin

Pang, Joanna, Allotey, Rebecca, Wadia, Noshir, Sasaki, Hidenao, Bindoff, Laurence, Chamberlain, Susan

Journal:

European Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 162 KB

english, 1999

20

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

Année:

2004

Langue:

english

Fichier:

PDF, 125 KB

english, 2004

21

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

Hakonen, Anna H, Davidzon, Guido, Salemi, Renato, Bindoff, Laurence A, Van Goethem, Gert, DiMauro, Salvatore, Thorburn, David R, Suomalainen, Anu

Journal:

European Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 92 KB

english, 2007

22

Treatment of mitochondrial disorders: practical and theoretical issues

Laurence Bindoff

Journal:

European Journal of Paediatric Neurology

Année:

1999

Langue:

english

Fichier:

PDF, 2.53 MB

english, 1999

23

Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase

Stephen I. GOODMAN, Kathleen M. AXTELL, Laurence A. BINDOFF, Shannon E. BEARD, Ronald E. GILL, Frank E. FRERMAN

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 1.54 MB

english, 1994

24

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy

Petter S. Sanaker, Marina Toompuu, Vanessa E. Hogan, Langping He, Charalampos Tzoulis, Zofia M.A. Chrzanowska-Lightowlers, Robert W. Taylor, Laurence A. Bindoff

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2010

Langue:

english

Fichier:

PDF, 350 KB

english, 2010

25

Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis

Petter Schandl Sanaker, Marina Toompuu, Graham McClorey, Laurence A. Bindoff

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 440 KB

english, 2012

26

Liver mtDNA content increases during development: A comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion

Karl J. Morten, Neil Ashley, Frits Wijburg, Nedim Hadzic, Jeremy Parr, Sandeep Jayawant, Susan Adams, Laurence Bindoff, Henk D. Bakker, Giorgina Mieli-Vergani, Massimo Zeviani, Joanna Poulton

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 417 KB

english, 2007

27

A Clinical Guide To Inherited Metabolic Diseases: J.T.R. Clark; Cambridge University Press, 2002, 306 pages, 30 line diagrams, 35 half-tones, 72 tables, ISBN 0-521-890764, UK price £36.00

Laurence Bindoff

Journal:

Neuromuscular Disorders

Année:

2004

Langue:

english

Fichier:

PDF, 38 KB

english, 2004

28

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

Seyed Bidooki, Margaret J Jackson, Margaret A Johnson, Zofia M.A Chrzanowska-Lightowlers, Robert W Taylor, Graham Venables, Robert N Lightowlers, Douglass M Turnbull, Laurence A Bindoff

Journal:

Neuromuscular Disorders

Année:

2004

Langue:

english

Fichier:

PDF, 102 KB

english, 2004

29

Severe fascioscapulohumeral muscular dystrophy presenting with Coats’ disease and mental retardation

Laurence A. Bindoff, Nanette Mjellem, Kristian Sommerfelt, Bård K. Krossnes, Fiona Roberts, Jørgen Krohn, Randi Skarpaas Tranheim, Irene D. Haggerty

Journal:

Neuromuscular Disorders

Année:

2006

Langue:

english

Fichier:

PDF, 2.86 MB

english, 2006

30

A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance

Esther Downham, Synnøve Winterthun, Hanne Linda Nakkestad, Asle Hirth, Thomas Halvorsen, Robert W. Taylor, Laurence A. Bindoff

Journal:

Neuromuscular Disorders

Année:

2008

Langue:

english

Fichier:

PDF, 225 KB

english, 2008

31

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I

Eva Stensland, Sigurd Lindal, Christoffer Jonsrud, Torberg Torbergsen, Laurence A. Bindoff, Magnhild Rasmussen, Arve Dahl, Frances Thyssen, Øivind Nilssen

Journal:

Neuromuscular Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 119 KB

english, 2011

32

Focal myositis – A neurogenic phenomenon?

Hanne Marie Bøe Lunde, Geir Olve Skeie, Anne K. Bertelsen, Bjørn Karlsen, Hrvoje Miletic, Sigurd Lindal, Nils J. Brautaset, Laurence A. Bindoff

Journal:

Neuromuscular Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 482 KB

english, 2012

33

Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy

Arne Gramstad, Laurence A. Bindoff, Atle Lillebø, Charalampos Tzoulis, Bernt A. Engelsen

Journal:

Epilepsy & Behavior

Année:

2009

Langue:

english

Fichier:

PDF, 132 KB

english, 2009

34

Mitochondrial diseases and epilepsy

Laurence A. Bindoff, Bernt A. Engelsen

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 76 KB

english, 2012

35

MT-ND5 Mutation Causing Exercise Intolerance Displays Intercellular Heteroplasmy and Rapid Shifts Between Generations

Sanaker, Petter Schandl, Bindoff, Laurence A.

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 174 KB

english, 2013

36

Experimental (−) emetine myopathy: Ultrastructural and morphometric observations

Laurence Bindoff, Michael J. Cullen

Journal:

Journal of the Neurological Sciences

Année:

1978

Langue:

english

Fichier:

PDF, 2.13 MB

english, 1978

37

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): A clinical, biochemical and molecular study

Laurence A. Bindoff, Claude Desnuelle, Mark A. Birch-Machin, Jean-Francois Pellissier, Georges Serratrice, Charlotte Dravet, Michelle Bureau, Neil Howell, Douglass M. Turnbull

Journal:

Journal of the Neurological Sciences

Année:

1991

Langue:

english

Fichier:

PDF, 1.31 MB

english, 1991

38

Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals

Neil Howell, Soumitra S Ghosh, Eoin Fahy, Laurence A Bindoff

Journal:

Journal of the Neurological Sciences

Année:

2000

Langue:

english

Fichier:

PDF, 70 KB

english, 2000

39

New treatments for mitochondrial disease—no time to drop our standards

Pfeffer, Gerald, Horvath, Rita, Klopstock, Thomas, Mootha, Vamsi K., Suomalainen, Anu, Koene, Saskia, Hirano, Michio, Zeviani, Massimo, Bindoff, Laurence A., Yu-Wai-Man, Patrick, Hanna, Michael, Carel

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Année:

2013

Langue:

english

Fichier:

PDF, 272 KB

english, 2013

40

Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study

Ramm-Pettersen, Anette, Nakken, Karl O, Skogseid, Inger M, Randby, Hans, Skei, Erik B, Bindoff, Laurence A, Selmer, Kaja K

Journal:

Developmental Medicine & Child Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 253 KB

english, 2013

41

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation

Haugarvoll, Kristoffer, Tzoulis, Charalampos, Tran, Gia T., Karlsen, Bjørn, Engelsen, Bernt A., Knappskog, Per M., Bindoff, Laurence A.

Journal:

Journal of Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 222 KB

english, 2014

42

Molecular pathogenesis of polymerase gamma-related neurodegeneration

Tzoulis, Charalampos, Tran, Gia Tuong, Coxhead, Jonathan, Bertelsen, Bjørn, Lilleng, Peer K., Balafkan, Novin, Payne, Brendan, Miletic, Hrvoje, Chinnery, Patrick F., Bindoff, Laurence A.

Journal:

Annals of Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 2.01 MB

english, 2014

43

Thyrotoxicosis and Paraparesis in a Young Woman: Case Report and Review of the Literature

Mellgren, Gunnar, Bleskestad, Inger Hjørdis, Aanderud, Sylvi, Bindoff, Laurence

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 229 KB

english, 2002

44

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

Tzoulis, Charalampos, Zayats, Tetyana, Knappskog, Per Morten, Müller, Bernd, Larsen, Jan Petter, Tysnes, Ole-Bjørn, Bindoff, Laurence A., Johansson, Stefan, Haugarvoll, Kristoffer

Journal:

Proceedings of the National Academy of Sciences

Année:

2015

Langue:

english

Fichier:

PDF, 541 KB

english, 2015

45

High Myopia–Excavated Optic Disc Anomaly Associated With a Frameshift Mutation in the MYC-Binding Protein 2 Gene (MYCBP2)

Bredrup, Cecilie, Johansson, Stefan, Bindoff, Laurence A., Sztromwasser, Pawel, Kråkenes, Jostein, Mellgren, Anne E.C., Brurås, Kari R., Lind, Ola, Boman, Helge, Knappskog, Per M., Rødahl, Eyvind

Journal:

American Journal of Ophthalmology

Année:

2015

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2015

46

Cystic Dilation of Virchow-Robin Spaces in the Midbrain

Romi, F., Tysnes, O.-B., Kr&aring, kenes, J., Savoiardo, M., Aarli, J.A., Bindoff, Laurence

Journal:

European Neurology

Année:

2002

Langue:

english

Fichier:

PDF, 178 KB

english, 2002

47

A new malformation syndrome with congenital arthrogryposis and severe hyperkeratosis

Apold, Jaran, Bindoff, Laurence

Journal:

Clinical Dysmorphology

Année:

2011

Langue:

english

Fichier:

PDF, 94 KB

english, 2011

48

Mitochondrial DNA Sequence Characteristics Modulate the Size of the Genetic Bottleneck

Wilson, Ian J., Carling, Phillipa J., Alston, Charlotte L., Floros, Vasileios I., Pyle, Angela, Hudson, Gavin, Sallevelt, Suzanne C.E.H., Lamperti, Costanza, Carelli, Valerio, Bindoff, Laurence A., Sa

Journal:

Human Molecular Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1024 KB

english, 2016

49

Nigrostriatal denervation sine parkinsonism: Table 1

Haugarvoll, Kristoffer, Bindoff, Laurence A., Tzoulis, Charalampos

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 174 KB

english, 2016

50

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity

Tzoulis, Charalampos, Schwarzlmüller, Thomas, Biermann, Martin, Haugarvoll, Kristoffer, Bindoff, Laurence A.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 514 KB

english, 2016