Amati-Bonneau, P: search on Z-Library

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1

Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy

Leruez, Stéphanie, Verny, Christophe, Bonneau, Dominique, Procaccio, Vincent, Lenaers, Guy, Amati-Bonneau, Patrizia, Reynier, Pascal, Scherer, Clarisse, Prundean, Adriana, Orssaud, Christophe, Zanlong

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 696 KB

english, 2018

2

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity

Virginie Guillet, Arnaud Chevrollier, Julien Cassereau, Franck Letournel, Naïg Gueguen, Laurence Richard, Valérie Desquiret, Christophe Verny, Vincent Procaccio, Patrizia Amati-Bonneau, Pascal Reynier

Journal:

Year:

2010

Language:

english

File:

PDF, 894 KB

english, 2010

3

Genetically determined optic neuropathies

Milea, Dan, Amati-Bonneau, Patrizia, Reynier, Pascal, Bonneau, Dominique

Journal:

Current Opinion in Neurology

Year:

2010

Language:

english

File:

PDF, 301 KB

english, 2010

4

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Metodiev, M. D., Gerber, S., Hubert, L., Delahodde, A., Chretien, D., Gerard, X., Amati-Bonneau, P., Giacomotto, M.-C., Boddaert, N., Kaminska, A., Desguerre, I., Amiel, J., Rio, M., Kaplan, J., Munni

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.61 MB

english, 2014

5

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Le Roux, Bastien, Lenaers, Guy, Zanlonghi, Xavier, Amati-Bonneau, Patrizia, Chabrun, Floris, Foulonneau, Thomas, Caignard, Angélique, Leruez, Stéphanie, Gohier, Philippe, Procaccio, Vincent, Milea, Da

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 2.02 MB

english, 2019

6

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Le Roux, Bastien, Lenaers, Guy, Zanlonghi, Xavier, Amati-Bonneau, Patrizia, Chabrun, Floris, Foulonneau, Thomas, Caignard, Angélique, Leruez, Stéphanie, Gohier, Philippe, Procaccio, Vincent, Milea, Da

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 2.02 MB

2019

7

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis

Aurélien Olichon, Thomas Landes, Laetitia Arnauné-Pelloquin, Laurent J. Emorine, Valérie Mils, Agnès Guichet, Cécile Delettre, Christian Hamel, Patrizia Amati-Bonneau, Dominique Bonneau, Pascal Reynie

Journal:

Journal of Cellular Physiology

Year:

2007

Language:

english

File:

PDF, 453 KB

english, 2007

8

Dominant optic atrophy

Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 424 KB

english, 2012

9

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

Cassereau, J., Casasnovas, C., Gueguen, N., Malinge, M.- C., Guillet, V., Reynier, P., Bonneau, D., Amati-Bonneau, P., Banchs, I., Volpini, V., Procaccio, V., Chevrollier, A.

Journal:

Year:

2011

Language:

english

File:

PDF, 620 KB

english, 2011

10

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

Christophe Verny, Naig Guegen, Valerie Desquiret, Arnaud Chevrollier, Adriana Prundean, Frederic Dubas, Julien Cassereau, Marc Ferre, Patrizia Amati-Bonneau, Dominique Bonneau, Pascal Reynier, Vincent

Journal:

Year:

2011

Language:

english

File:

PDF, 382 KB

english, 2011

11

OPA1-associated disorders: Phenotypes and pathophysiology

Patrizia Amati-Bonneau, Dan Milea, Dominique Bonneau, Arnaud Chevrollier, Marc Ferré, Virginie Guillet, Naïg Gueguen, Dominique Loiseau, Marie-Anne Pou de Crescenzo, Christophe Verny, Vincent Procacci

Journal:

The International Journal of Biochemistry & Cell Biology

Year:

2009

Language:

english

File:

PDF, 1.22 MB

english, 2009

12

Improved Locus-Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data

Ferré, Marc, Caignard, Angélique, Milea, Dan, Leruez, Stéphanie, Cassereau, Julien, Chevrollier, Arnaud, Amati-Bonneau, Patrizia, Verny, Christophe, Bonneau, Dominique, Procaccio, Vincent, Reynier, Pa

Journal:

Year:

2015

Language:

english

File:

PDF, 670 KB

english, 2015

13

Nicotinamide Deficiency in Primary Open-Angle Glaucoma

Kouassi Nzoughet, Judith, Chao de la Barca, Juan Manuel, Guehlouz, Khadidja, Leruez, Stéphanie, Coulbault, Laurent, Allouche, Stéphane, Bocca, Cinzia, Muller, Jeanne, Amati-Bonneau, Patrizia, Gohier,

Journal:

Investigative Opthalmology & Visual Science

Year:

2019

Language:

english

File:

PDF, 345 KB

english, 2019

14

Nouvelle mutation du gène OPA1 responsable d’une atrophie optique dominante isolée chez deux frères

Macarez, R., Amati-Bonneau, P., Burelle, X., Vanimschoot, M., Dot, C., Ocamica, P., Kovalski, J.L., May, F.

Journal:

Journal Français d'Ophtalmologie

Year:

2007

File:

PDF, 779 KB

2007

15

OPA3, a new regulator of mitochondrial fission?

Alessandra Maresca, Claudia Zanna, Sara Vidoni, Michela Rugolo, Patrizia Amati-Bonneau, Valerio Carelli, Guy Lenaers, Cecile Delettre

Journal:

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

16

Neuropathies optiques d’origine mitochondriale

Leruez, S., Amati-Bonneau, P., Reynier, P., Bonneau, D., Procaccio, V., Milea, D., Verny, C.

Journal:

Pratique Neurologique - FMC

Year:

2016

File:

PDF, 9.58 MB

2016

17

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

Kane, Mariame Selma, Alban, Jennifer, Desquiret-Dumas, Valérie, Gueguen, Naïg, Ishak, Layal, Ferre, Marc, Amati-Bonneau, Patrizia, Procaccio, Vincent, Bonneau, Dominique, Lenaers, Guy, Reynier, Pascal

Journal:

Journal of Cellular and Molecular Medicine

Year:

2017

Language:

english

File:

PDF, 767 KB

english, 2017

18

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

Lévêque, Marianne, Marlin, Sandrine, Jonard, Laurence, Procaccio, Vincent, Reynier, Pascal, Amati-Bonneau, Patrizia, Baulande, Sylvain, Pierron, Denis, Lacombe, Didier, Duriez, Françoise

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 153 KB

english, 2007

19

Mitochondrial dysfunction and pathophysiology of Charcot–Marie–Tooth disease involving GDAP1 mutations

Julien Cassereau, Arnaud Chevrollier, Naïg Gueguen, Valérie Desquiret, Christophe Verny, Guillaume Nicolas, Frédéric Dubas, Patrizia Amati-Bonneau, Pascal Reynier, Dominique Bonneau, Vincent Procaccio

Journal:

Experimental Neurology

Year:

2011

Language:

english

File:

PDF, 646 KB

english, 2011

20

The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency

Bocca, Cinzia, Kane, Mariame Selma, Veyrat-Durebex, Charlotte, Chupin, Stéphanie, Alban, Jennifer, Kouassi Nzoughet, Judith, Le Mao, Morgane, Chao de la Barca, Juan Manuel, Amati-Bonneau, Patrizia, Bo

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 2.85 MB

english, 2018

21

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

Jurkute, Neringa, Majander, Anna, Bowman, Richard, Votruba, Marcela, Abbs, Stephen, Acheson, James, Lenaers, Guy, Amati-Bonneau, Patrizia, Moosajee, Mariya, Arno, Gavin, Yu-Wai-Man, Patrick

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 458 KB

english, 2018

22

Perspectives of drug-based neuroprotection targeting mitochondria

Procaccio, V., Bris, C., Chao de la Barca, J.M., Oca, F., Chevrollier, A., Amati-Bonneau, P., Bonneau, D., Reynier, P.

Journal:

Revue Neurologique

Year:

2014

Language:

english

File:

PDF, 1.01 MB

english, 2014

23

Heterozygous OPA1 mutations in Behr syndrome

Marelli, C., Amati-Bonneau, P., Reynier, P., Layet, V., Layet, A., Stevanin, G., Brissaud, E., Bonneau, D., Durr, A., Brice, A.

Journal:

Year:

2011

Language:

english

File:

PDF, 73 KB

english, 2011

24

Cataract as a Phenotypic Marker for a Mutation in WFS1 , the Wolfram Syndrome Gene

Cherif Titah, Salah Mohamed, Meunier, Isabelle, Blanchet, Catherine, Lopez, Severine, Rondouin, Gerard, Lenaers, Guy, Amati-Bonneau, Patrizia, Reynier, Pascal, Paquis-Flucklinger, Veronique, Hamel, Ch

Journal:

European Journal of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 171 KB

english, 2012

25

eOPA1: An online database for OPA1 mutations

Marc Ferré, Patrizia Amati-Bonneau, Yves Tourmen, Yves Malthièry, Pascal Reynier

Journal:

Year:

2005

Language:

english

File:

PDF, 368 KB

english, 2005

26

M - 12 Relation inclusions intranucléaires — ADN mitochondrial dans la maladie de Huntington

Letournel, F., Pietrin, D., Verny, C., Dubas, F., Amati-Bonneau, P., Bonneau, D., Barthelaix, A., Reynier, P.

Journal:

Revue Neurologique

Year:

2007

Language:

french

File:

PDF, 58 KB

french, 2007

27

Charcot-Marie-Tooth Disease Type 2A

Bombelli, Francesco, Stojkovic, Tanya, Dubourg, Odile, Echaniz-Laguna, Andoni, Tardieu, Sandrine, Larcher, Kathy, Amati-Bonneau, Patrizia, Latour, Philippe, Vignal, Odile, Cazeneuve, Cécile, Brice, Al

Journal:

Year:

2014

Language:

english

File:

PDF, 344 KB

english, 2014

28

Mitochondrial dynamics and disease, OPA1

Aurélien Olichon, Emmanuelle Guillou, Cécile Delettre, Thomas Landes, Laetitia Arnauné-Pelloquin, Laurent J. Emorine, Valérie Mils, Marlène Daloyau, Christian Hamel, Patrizia Amati-Bonneau, Dominique

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2006

Language:

english

File:

PDF, 487 KB

english, 2006

29

Mutations du gène OPA1 associant neuropathie optique et surdité

Guillet-Pichon, V., Leruez, S., Milea, D., Reynier, P., Amati-Bonneau, P., Bonneau, D., Verny, C.

Journal:

Revue Neurologique

Year:

2014

Language:

french

File:

PDF, 191 KB

french, 2014

30

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Angebault, Claire, Guichet, Pierre-Olivier, Talmat-Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares-Taie, Lucas, Gueguen, Naig, Halloy, François, Moore, David, Amati-Bonneau, Patrizia, Manes, Gael

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.25 MB

english, 2015

31

Pathologies liées à des mutations de l’ADN mitochondrial

Bris, Céline, Desquiret-Dumas, Valérie, Gueguen, Naig, Amati-Bonneau, Patrizia, Reynier, Pascal, Procaccio, Vincent

Journal:

Revue Francophone des Laboratoires

Year:

2018

Language:

french

File:

PDF, 1.41 MB

french, 2018

32

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Chao de la Barca, Juan Manuel, Prunier-Mirebeau, Delphine, Amati-Bonneau, Patrizia, Ferré, Marc, Sarzi, Emmanuelle, Bris, Céline, Leruez, Stéphanie, Chevrollier, Arnaud, Desquiret-Dumas, Valérie, Gueg

Journal:

Neurobiology of Disease

Year:

2015

Language:

english

File:

PDF, 1.47 MB

english, 2015

33

MFN2, a new gene responsible for mitochondrial DNA depletion

Renaldo, F., Amati-Bonneau, P., Slama, A., Romana, C., Forin, V., Doummar, D., Barnerias, C., Bursztyn, J., Mayer, M., Khouri, N., Billette de Villemeur, T., Burglen, L., Reynier, P., Bernabe Gelot, A

Journal:

Year:

2012

Language:

english

File:

PDF, 360 KB

english, 2012

34

Reversible optic neuropathy with OPA1 exon 5b mutation

Karen Cornille, Dan Milea, Patrizia Amati-Bonneau, Vincent Procaccio, Lydie Zazoun, Virginie Guillet, Ghizlane El Achouri, Cécile Delettre, Naïg Gueguen, Dominique Loiseau, Agnès Muller, Marc Ferré, A

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 508 KB

english, 2008

35

Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

FerrÃ©, Marc, Amati-Bonneau, Patrizia, MoriniÃ¨re, Catherine, FerrÃ©-LâHÃ´tellier, VÃ©ronique, Lemerle, Sophie, Przyrowski, Daniel, Procaccio, Vincent, Descamps, Philippe, Reynier, Pascal, May-Panlo

Journal:

Journal of Assisted Reproduction and Genetics

Year:

2014

Language:

english

File:

PDF, 168 KB

english, 2014

36

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

Hudson, G., Amati-Bonneau, P., Blakely, E. L., Stewart, J. D., He, L., Schaefer, A. M., Griffiths, P. G., Ahlqvist, K., Suomalainen, A., Reynier, P., McFarland, R., Turnbull, D. M., Chinnery, P. F., T

Journal:

Year:

2008

Language:

english

File:

PDF, 218 KB

english, 2008

37

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

Olivier Baris, Cécile Delettre, Patrizia Amati-Bonneau, Marie-Odile Surget, Jean-François Charlin, Antoine Catier, Laurence Derieux, Jean-Laurent Guyomard, Hélène Dollfus, Philippe Jonveaux, Carmen Ay

Journal:

Year:

2003

Language:

english

File:

PDF, 45 KB

english, 2003

38

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS

Valerie Desquiret-Dumas, Naig Gueguen, Magalie Barth, Arnaud Chevrollier, Saege Hancock, Douglas C. Wallace, Patrizia Amati-Bonneau, Daniel Henrion, Dominique Bonneau, Pascal Reynier, Vincent Procacci

Journal:

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

Year:

2012

Language:

english

File:

PDF, 969 KB

english, 2012

39

Pathologie de la dynamique mitochondriale

Amati-Bonneau, P., Chevrollier, A., Verny, C., Miléa, D., Procaccio, V., Bonneau, D., Reynier, P.

Journal:

Revue Neurologique

Year:

2011

Language:

french

File:

PDF, 138 KB

french, 2011

40

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Angebault, Claire, Guichet, Pierre-Olivier, Talmat-Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares-Taie, Lucas, Gueguen, Naig, Halloy, François, Moore, David, Amati-Bonneau, Patrizia, Manes, Gael

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

41

Metabolomic profiling of aqueous humor in glaucoma points to taurine and spermine deficiency: findings from the Eye-D study

Buisset, Adrien, Gohier, Philippe, Leruez, Stéphanie, Muller, Jeanne, Amati-Bonneau, Patrizia, Lenaers, Guy, Bonneau, Dominique, Simard, Gilles, Procaccio, Vincent, Annweiler, Cedric, Milea, Dan, Reyn

Journal:

Journal of Proteome Research

Year:

2019

Language:

english

File:

PDF, 1.23 MB

english, 2019

42

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Colin, Estelle, Daniel, Jens, Ziegler, Alban, Wakim, Jamal, Scrivo, Aurora, Haack, Tobias B., Khiati, Salim, Denommé, Anne-Sophie, Amati-Bonneau, Patrizia, Charif, Majida, Procaccio, Vincent, Reynier,

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.77 MB

english, 2016

43

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency

Leruez, Stéphanie, Marill, Alexandre, Bresson, Thomas, de Saint Martin, Grégoire, Buisset, Adrien, Muller, Jeanne, Tessier, Lydie, Gadras, Cédric, Verny, Christophe, Gohier, Philippe, Amati-Bonneau, P

Journal:

Investigative Opthalmology & Visual Science

Year:

2018

Language:

english

File:

PDF, 451 KB

english, 2018

44

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model

Frey, Samuel, Geffroy, Guillaume, Desquiret-Dumas, Valerie, Gueguen, Naig, Bris, Celine, Belal, Sophie, Amati-Bonneau, Patrizia, Chevrollier, Arnaud, Barth, Magalie, Henrion, Daniel, Lenaers, Guy, Bon

Journal:

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

Year:

2016

Language:

english

File:

PDF, 582 KB

english, 2016

45

New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

Denis Pierron, Christophe Rocher, Patricia Amati-Bonneau, Pascal Reynier, Marie-Laure Martin-Négrier, Stéphane Allouche, Cécile Batandier, Benedicte Mousson de Camaret, Catherine Godinot, Agnes Rotig,

Journal:

BMC Medical Genetics

Year:

2008

Language:

english

File:

PDF, 803 KB

english, 2008

46

M - 16 Atrophie optique et atteinte neurologique avec mutation OPA1 : un nouveau phénotype OPA1 plus

Scherer, C., Verny, C., Lejeune, P., Amati-Bonneau, P., Reynier, P., Bonneau, D., Dubas, F.

Journal:

Revue Neurologique

Year:

2007

Language:

french

File:

PDF, 58 KB

french, 2007

47

OPA3-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia

Ayrignac, X., Liauzun, C., Lenaers, G., Renard, D., Amati-Bonneau, P., de Sèze, J., Dollfus, H., Hamel, C., Bonneau, D., Labauge, P.

Journal:

European Neurology

Year:

2012

Language:

english

File:

PDF, 249 KB

english, 2012

48

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

Denis Pierron, Marc Ferré, Christophe Rocher, Arnaud Chevrollier, Pascal Murail, Didier Thoraval, Patrizia Amati-Bonneau, Pascal Reynier, Thierry Letellier

Journal:

BMC Medical Genetics

Year:

2009

Language:

english

File:

PDF, 788 KB

english, 2009

49

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation

Guillet, V., Gueguen, N., Cartoni, R., Chevrollier, A., Desquiret, V., Angebault, C., Amati-Bonneau, P., Procaccio, V., Bonneau, D., Martinou, J.-C., Reynier, P.

Journal:

The FASEB Journal

Year:

2011

Language:

english

File:

PDF, 383 KB

english, 2011

50

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene

Patrizia Amati-Bonneau, Sylvie Odent, Christelle Derrien, Laurent Pasquier, Yves Malthiéry, Pascal Reynier, Dominique Bonneau

Journal:

American Journal of Ophthalmology

Year:

2003

Language:

english

File:

PDF, 68 KB

english, 2003

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