Patrizia Amati : rechercher sur 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

Année:

2018

Langue:

english

Fichier:

PDF, 696 KB

english, 2018

2

Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease

Dominique Loiseau, Arnaud Chevrollier, Christophe Verny, Virginie Guillet, Naïg Gueguen, Marie-Anne Pou De Crescenzo, Marc Ferré, Marie-Claire Malinge, Agnès Guichet, Guillaume Nicolas, Patrizia Amati

Journal:

Annals of Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 357 KB

english, 2007

3

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:

Année:

2010

Langue:

english

Fichier:

PDF, 894 KB

english, 2010

4

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

Année:

2007

Langue:

english

Fichier:

PDF, 453 KB

english, 2007

5

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:

Année:

2011

Langue:

english

Fichier:

PDF, 382 KB

english, 2011

6

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

Année:

2012

Langue:

english

Fichier:

PDF, 424 KB

english, 2012

7

Genetically determined optic neuropathies

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

Journal:

Current Opinion in Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 301 KB

english, 2010

8

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

Année:

2019

Langue:

english

Fichier:

PDF, 2.02 MB

english, 2019

9

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

Année:

2019

Fichier:

PDF, 2.02 MB

2019

10

Incidence and prevalence of pressure ulcers in cancer patients admitted to hospice: A multicentre prospective cohort study

Jakobsen, Tina Bull Tafteberg, Pittureri, Cristina, Seganti, Patrizia, Borissova, Elena, Balzani, Isabella, Fabbri, Samanta, Amati, Piero, Donigaglia, Sara, Gallina, Silvia, Fabbri, Elisabetta

Journal:

International Wound Journal

Année:

2020

Fichier:

PDF, 1.05 MB

2020

11

Heterotaxy-neural tube defect and holoprosencephaly occurring independently in two sib fetuses

Bonneau, Dominique, Mar�chaud, Martine, Odent, Sylvie, Piegay, Isabelle, Godard, Alain, Amati, Patrizia

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 247 KB

english, 1999

12

Splenogonadal fusion limb defect syndrome: Report of five new cases and review

Bonneau, Dominique, Roume, Joelle, Gonzalez, Marie, Toutain, Annick, Carles, Dominique, Mar�chaud, Martine, Biran-Mucignat, Val�rie, Amati, Patrizia, Moraine, Claude

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 835 KB

english, 1999

13

Histology of familial thyroid tumours linked to a gene mapping to chromosome 19p13.2

Harach, H. Rub�n, Lesueur, Fabienne, Amati, Patrizia, Brown, Alex, Canzian, Federico, Kraimps, Jean-Louis, Levillain, Pierre, Menet, Emmanuele, Romeo, Giovanni, Bonneau, Dominique

Journal:

The Journal of Pathology

Année:

1999

Langue:

english

Fichier:

PDF, 485 KB

english, 1999

14

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness

Patrizia Amati-Bonneau, Agnès Guichet, Aurélien Olichon, Arnaud Chevrollier, Frédérique Viala, Stéphanie Miot, Carmen Ayuso, Sylvie Odent, Catherine Arrouet, Christophe Verny, Marie-Noelle Calmels, Gi

Journal:

Annals of Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 2.07 MB

english, 2005

15

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

Année:

2008

Langue:

english

Fichier:

PDF, 508 KB

english, 2008

16

Hereditary optic neuropathies share a common mitochondrial coupling defect

Arnaud Chevrollier, Virginie Guillet, Dominique Loiseau, Naïg Gueguen, Marie-Anne Pou de Crescenzo, Christophe Verny, Marc Ferre, Hélène Dollfus, Sylvie Odent, Dan Milea, Cyril Goizet, Patrizia Amati-

Journal:

Annals of Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 205 KB

english, 2008

17

eOPA1: An online database for OPA1 mutations

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 368 KB

english, 2005

18

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:

Année:

2003

Langue:

english

Fichier:

PDF, 45 KB

english, 2003

19

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

Année:

2009

Langue:

english

Fichier:

PDF, 788 KB

english, 2009

20

A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23

Patrizia Amati, Jean-Claude Chomel, Annie Nivelon-Chevalier, Simone Gilgenkrantz, Alain Kitzis, Josseline Kaplan, Dominique Bonneau

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 298 KB

english, 1995

21

Adenine nucleotide translocase is involved in a mitochondrial coupling defect inMFN2-related Charcot–Marie–Tooth type 2A disease

Virginie Guillet, Naïg Gueguen, Christophe Verny, Marc Ferre, Chadi Homedan, Dominique Loiseau, Vincent Procaccio, Patrizia Amati-Bonneau, Dominique Bonneau, Pascal Reynier, Arnaud Chevrollier

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 208 KB

english, 2010

22

10.1038/84781

Crisponi, Laura, Deiana, Manila, Loi, Angela, Chiappe, Francesca, Uda, Manuela, Amati, Patrizia, Bisceglia, Luigi, Zelante, Leopoldo, Nagaraja, Ramaiah, Porcu, Susanna, Serafina Ristaldi, M., Marzella

Journal:

Nature Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 3.05 MB

english, 2001

23

A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

Bisceglia, Luigi, Zoccolella, Stefano, Torraco, Alessandra, Piemontese, Maria Rosaria, Dell'Aglio, Rosa, Amati, Angela, De Bonis, Patrizia, Artuso, Lucia, Copetti, Massimiliano, Santorelli, Filippo Ma

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 378 KB

english, 2010

24

An autosomal locus predisposing to deletions of mitochondrial DNA

Suomalainen, Anu, Kaukonen, Jyrki, Amati, Patrizia, Timonen, Ritva, Haltia, Matti, Weissenbach, Jean, Zeviani, Massimo, Somer, Hannu, Peltonen, Leena

Journal:

Nature Genetics

Année:

1995

Fichier:

PDF, 671 KB

1995

25

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

Année:

2007

Langue:

english

Fichier:

PDF, 153 KB

english, 2007

26

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

Année:

2006

Langue:

english

Fichier:

PDF, 487 KB

english, 2006

27

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration

Claire Angebault, Naïg Gueguen, Valérie Desquiret-Dumas, Arnaud Chevrollier, Virginie Guillet, Christophe Verny, Julien Cassereau, Marc Ferre, Dan Milea, Patrizia Amati-Bonneau, Dominique Bonneau, Vin

Journal:

BMC Research Notes

Année:

2011

Langue:

english

Fichier:

PDF, 193 KB

english, 2011

28

Searching for genes affecting the structural integrity of the mitochondrial genome

Massimo Zeviani, Patrizia Amati, Giacomo Comi, Giovanni Fratta, Caterina Mariotti, Valeria Tiranti

Journal:

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

Année:

1995

Langue:

english

Fichier:

PDF, 612 KB

english, 1995

29

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

Année:

2012

Langue:

english

Fichier:

PDF, 969 KB

english, 2012

30

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

Année:

2009

Langue:

english

Fichier:

PDF, 1.22 MB

english, 2009

31

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function

Arnaud Chevrollier, Julien Cassereau, Marc Ferré, Jennifer Alban, Valérie Desquiret-Dumas, Naïg Gueguen, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier

Journal:

The International Journal of Biochemistry & Cell Biology

Année:

2012

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2012

32

Tubulopathy and pancytopaenia with normal pancreatic function: A variant of Pearson syndrome

Agnès Atale, Patrizia Bonneau-Amati, Agnès Rötig, Alain Fischer, Stéphanie Perez-Martin, Pascale de Lonlay, Patrick Niaudet, L. De Parscau, C. Mousson, C. Thauvin-Robinet, A. Munnich, F. Huet, L. Faiv

Journal:

European Journal of Medical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 116 KB

english, 2009

33

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

Année:

2003

Langue:

english

Fichier:

PDF, 68 KB

english, 2003

34

Familial papillary carcinoma of the thyroid

Jean-Louis Kraimps, Marie-Helene Bouin-Pineau, Patrizia Amati, Denis Mothes, Dominique Bonneau, Richard Maréchaud, Jacques Barbier

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 338 KB

english, 1997

35

A Gene Predisposing to Familial Thyroid Tumors with Cell Oxyphilia Maps to Chromosome 19p13.2

Federico Canzian, Patrizia Amati, H. Rubén Harach, Jean-Louis Kraimps, Fabienne Lesueur, Jacques Barbier, Pierre Levillain, Giovanni Romeo, Dominique Bonneau

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 889 KB

english, 1998

36

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

Année:

2011

Langue:

english

Fichier:

PDF, 646 KB

english, 2011

37

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:

Année:

2012

Langue:

english

Fichier:

PDF, 64 KB

english, 2012

38

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

Année:

2014

Langue:

english

Fichier:

PDF, 168 KB

english, 2014

39

Expression of respiratory chain deficiencies in human cultured cells

Bourgeron, Thomas, Chretien, Dominique, Amati, Patrizia, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre

Journal:

Neuromuscular Disorders

Année:

1993

Langue:

english

Fichier:

PDF, 274 KB

english, 1993

40

Clinical Heterogeneity of Hereditary Optic Atrophy in a Turkish Family

Acaroglu, Golge, Alanay, Yasemin, Reynier, Pascal, Amati-Bonneau, Patrizia, Men, Gamze

Journal:

Neuro-Ophthalmology

Année:

2005

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2005

41

Tuning electronic properties of carbon nanotubes by nitrogen grafting: Chemistry and chemical stability

Scardamaglia, Mattia, Struzzi, Claudia, Aparicio Rebollo, Francisco J., De Marco, Patrizia, Mudimela, Prasantha R., Colomer, Jean-François, Amati, Matteo, Gregoratti, Luca, Petaccia, Luca, Snyders, Ro

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.85 MB

english, 2015

42

Quasi-in-Situ Single-Grain Photoelectron Microspectroscopy of Co/PPy Nanocomposites under Oxygen Reduction Reaction

Bocchetta, Patrizia, Amati, Matteo, Bozzini, Benedetto, Catalano, Massimo, Gianoncelli, Alessandra, Gregoratti, Luca, Taurino, Antonietta, Kiskinova, Maya

Journal:

ACS Applied Materials & Interfaces

Année:

2014

Langue:

english

Fichier:

PDF, 3.81 MB

english, 2014

43

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:

Année:

2014

Langue:

english

Fichier:

PDF, 344 KB

english, 2014

44

Perindopril and indapamide reverse coronary microvascular remodelling and improve flow in arterial hypertension

Neglia, Danilo, Fommei, Enza, Varela-Carver, Anabel, Mancini, Massimiliano, Ghione, Sergio, Lombardi, Massimo, Pisani, Patrizia, Parker, Howard, Dʼamati, Giulia, Donato, Luigi, Camici, Paolo G

Journal:

Journal of Hypertension

Année:

2011

Langue:

english

Fichier:

PDF, 300 KB

english, 2011

45

An in situ near-ambient pressure X-ray Photoelectron Spectroscopy study of Mn polarised anodically in a cell with solid oxide electrolyte

Bozzini, Benedetto, Amati, Matteo, Bocchetta, Patrizia, Dal Zilio, Simone, Knop-Gericke, Axel, Vesselli, Erik, Kiskinova, Maya

Journal:

Electrochimica Acta

Année:

2015

Langue:

english

Fichier:

PDF, 3.21 MB

english, 2015

46

Corrigendum to ‘Electrosynthesis of Co/PPy nanocomposites for ORR electrocatalysis: a study based on quasi-in situ X-ray absorption, fluorescence and in situ Raman spectroscopy’ [Electrochimica Acta 137 (2014) 535–545]

Bocchetta, Patrizia, Gianoncelli, Alessandra, Abyaneh, Majid Kazemian, Kiskinova, Maya, Amati, Matteo, Gregoratti, Luca, Jezeršek, David, Mele, Claudio, Bozzini, Benedetto

Journal:

Electrochimica Acta

Année:

2014

Langue:

english

Fichier:

PDF, 426 KB

english, 2014

47

Morphochemical evolution during ageing of pyrolysed Mn/Polypyrrole nanocomposite oxygen reduction electrocatalysts: A study based on quasi-in situ photoelectron spectromicroscopy

Bocchetta, Patrizia, Amati, Matteo, Gregoratti, Luca, Kiskinova, Maya, Sezen, Hikmet, Taurino, Antonietta, Bozzini, Benedetto

Journal:

Journal of Electroanalytical Chemistry

Année:

2015

Langue:

english

Fichier:

PDF, 1.22 MB

english, 2015

48

Electrodeposition and pyrolysis of Mn/polypyrrole nanocomposites: a study based on soft X ray absorption, fluorescence and photoelectron microspectroscopies

Bozzini, Benedetto, Bocchetta, Patrizia, Aleman, Belen, Amati, Matteo, Gianoncelli, Alesasndra, Gregoratti, Luca, Sezen, Hikmet, Taurino, Antonietta, Kiskinova, Maya

Journal:

Journal of Materials Chemistry A

Année:

2015

Langue:

english

Fichier:

PDF, 2.22 MB

english, 2015

49

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

Année:

2015

Langue:

english

Fichier:

PDF, 1.47 MB

english, 2015

50

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

Année:

2015

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2015