Agnes Rotig: search on Z-Library

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1

Infantile and pediatric quinone deficiency diseases

Agnès Rötig, Julie Mollet, Marlène Rio, Arnold Munnich

Journal:

Year:

2007

Language:

english

File:

PDF, 174 KB

english, 2007

2

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Haghighi, Alireza, Haack, Tobias B, Atiq, Mehnaz, Mottaghi, Hassan, Haghighi-Kakhki, Hamidreza, Bashir, Rani A, Ahting, Uwe, Feichtinger, René G, Mayr, Johannes A, Rötig, Agnès, Lebre, Anne-Sophie, Kl

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 2.22 MB

english, 2014

3

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

Dhir, Ashish, Dhir, Somdutta, Borowski, Lukasz S., Jimenez, Laura, Teitell, Michael, Rötig, Agnès, Crow, Yanick J., Rice, Gillian I., Duffy, Darragh, Tamby, Christelle, Nojima, Takayuki, Munnich, Arno

Journal:

Year:

2018

Language:

english

File:

PDF, 6.93 MB

english, 2018

4

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency

Jürgen-Christoph von Kleist-Retzow, Elodie Vial, Karine Chantrel-Groussard, Agnès Rötig, Arnold Munnich, Pierre Rustin, Jan-Willem Taanman

Journal:

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

Year:

1999

Language:

english

File:

PDF, 469 KB

english, 1999

5

The human MSH5 (MutS Homolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage

Sylvie Bannwarth, Alexia Figueroa, Konstantina Fragaki, Laurie Destroismaisons, Sandra Lacas-Gervais, Françoise Lespinasse, Fanny Vandenbos, Ludivine A. Pradelli, Jean-Ehrland Ricci, Agnès Rötig, Jean

Journal:

Year:

2012

Language:

english

File:

PDF, 1.74 MB

english, 2012

6

Resveratrol improves mitochondrial functions in respiratory chain-deficient cells

Costa, Alexandra Lopes, Le Bachelier, Carole, Rötig, Agnès, Boneh, Avihu, De Lonlay, Pascale, Tarnopolsky, Mark A., Thorburn, David, Bastin, Jean, Djouadi, Fatima

Journal:

Year:

2013

Language:

english

File:

PDF, 72 KB

english, 2013

7

Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency

Laurence Faivre, Valérie Cormier-Daire, Dominique Chrétien, Jürgen Christoph von Kleist-Retzow, Jeanne Amiel, Marc Dommergues, Jean-Marie Saudubray, Yves Dumez, Agnès Rötig, Pierre Rustin, Arnold Munn

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 66 KB

english, 2000

8

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:

Year:

1995

Language:

english

File:

PDF, 493 KB

english, 1995

9

Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein–Barr virus–transformed lymphocytes in Pearson syndrome

Agnès Rötig, Thomas Bourgeron, Pierre Rustin, Arnold Munnich

Journal:

Year:

1995

Language:

english

File:

PDF, 584 KB

english, 1995

10

Succinate dehydrogenase and human diseases: new insights into a well-known enzyme

Rustin, Pierre, Munnich, Arnold, Rötig, Agnès

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 85 KB

english, 2002

11

Phenotypic variability and identification of novelYARS2mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

Riley, Lisa G, Menezes, Minal J, Rudinger-Thirion, Joëlle, Duff, Rachael, de Lonlay, Pascale, Rotig, Agnes, Tchan, Michel C, Davis, Mark, Cooper, Sandra T, Christodoulou, John

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 461 KB

english, 2013

12

13 NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

Esther Leshinsky, Ann Sophie Lebre, Limor Minai, Ann Saada, Julie Steffan, Sarit Cohen, Agnes Rotig

Journal:

Year:

2010

Language:

english

File:

PDF, 42 KB

english, 2010

13

Coenzyme Q10 and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits

Vanna Geromel, Niklas Darin, Dominique Chrétien, Paule Bénit, Pascale DeLonlay, Agnès Rötig, Arnold Munnich, Pierre Rustin

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 473 KB

english, 2002

14

Prévenir la transmission des mutations de l’ADN mitochondrial : mythe ou réalité ?

Steffann, Julie, Monnot, Sophie, Rotig, Agnès, Munnich, Arnold, Bonnefont, Jean-Paul

Journal:

médecine/sciences

Year:

2010

Language:

french

File:

PDF, 70 KB

french, 2010

15

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poul

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 3.28 MB

english, 2018

16

Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood

Emmanuelle Sarzi, Alice Bourdon, Dominique Chrétien, Mohamed Zarhrate, Johanna Corcos, Abdelhamid Slama, Valérie Cormier-Daire, Pascale de Lonlay, Arnold Munnich, Agnès Rötig

Journal:

The Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 214 KB

english, 2007

17

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

Rötig, Agnès, de Lonlay, Pascale, Chretien, Dominique, Foury, Françoise, Koenig, Michel, Sidi, Daniel, Munnich, Arnold, Rustin, Pierre

Journal:

Nature Genetics

Year:

1997

File:

PDF, 345 KB

1997

18

Genetic bases of mitochondrial respiratory chain disorders

Journal:

Diabetes & Metabolism

Year:

2010

File:

PDF, 509 KB

2010

19

Inborn errors of complex II – Unusual human mitochondrial diseases

Pierre Rustin, Agnès Rötig

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2002

Language:

english

File:

PDF, 292 KB

english, 2002

20

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy

Valérie Cormier-Daire, Jean-Paul Bonnefont, Pierre Rustin, Chantal Maurage, Hélène Ogier, Jacques Schmitz, Claude Ricour, Jean-Marie Saudubray, Arnold Munnich, Agnès Rötig

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 2.25 MB

english, 1994

21

Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies

Pierre Rustin, Jerôme Lebidois, Dominique Chretien, Thomas Bourgeron, Jean-François Piechaud, Agnès Rötig, Arnold Munnich, Daniel Sidi

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 730 KB

english, 1994

22

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

Pierre Rustin, Jürgen-Christoph von Kleist-Retzow, Karine Chantrel-Groussard, Daniel Sidi, Arnold Munnich, Agnès Rötig

Journal:

Year:

1999

Language:

english

File:

PDF, 67 KB

english, 1999

23

Molecular insights into Friedreich's ataxia and antioxidant-based therapies

Agnès Rötig, Daniel Sidi, Arnold Munnich, Pierre Rustin

Journal:

Trends in Molecular Medicine

Year:

2002

Language:

english

File:

PDF, 117 KB

english, 2002

24

Respiratory Chain Deficiency in Alpers Syndrome

Gauthier-Villars, Marion, Landrieu, P., Cormier-Daire, Valérie, Jacquemin, E., Chrétien, D., Rötig, Agnès, Rustin, P., Munnich, A., de Lonlay, Pascale

Journal:

Neuropediatrics

Year:

2001

Language:

english

File:

PDF, 52 KB

english, 2001

25

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency

Marie-Hélène Odièvre, Dominique Chretien, Arnold Munnich, Brian H. Robinson, Renée Dumoulin, Sahben Masmoudi, Noman Kadhom, Agnès Rötig, Pierre Rustin, Jean-Paul Bonnefont

Journal:

Year:

2005

Language:

english

File:

PDF, 156 KB

english, 2005

26

Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

Paule Bénit, Dominique Chretien, Nohman Kadhom, Pascale de Lonlay-Debeney, Valérie Cormier-Daire, Aguinaldo Cabral, Sylviane Peudenier, Pierre Rustin, Arnold Munnich, Agnès Rötig

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.39 MB

english, 2001

27

Human cultured skin fibroblasts survive profound inherited ubiquinone depletion

Geromel, Vanna, Kadhom, Noman, Ceballos-Picot, Irène, Chrétien, Dominique, Munnich, Arnold, Rötig, Agnès, Rustin, Pierre

Journal:

Free Radical Research

Year:

2001

Language:

english

File:

PDF, 1.11 MB

english, 2001

28

Expression of respiratory chain deficiencies in human cultured cells

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

Journal:

Neuromuscular Disorders

Year:

1993

Language:

english

File:

PDF, 274 KB

english, 1993

29

A case of Pearson syndrome associated with multiple renal cysts

Aytemiz Gürgey, İmran Özalp, Agnes Rötig, Ttorgay Coşkun, Gülsevin Tekinalp, Gülsen Erdem, Zühal Akcören, Melda Caglar, Aysin Bakkaloglu

Journal:

Pediatric Nephrology

Year:

1996

Language:

english

File:

PDF, 559 KB

english, 1996

30

Cytopathies mitochondriales

de Lonlay, Pascale, Rötig, Agnès, Rustin, Pierre, Munnich, Arnold, Département de génétique,

Journal:

EMC - Neurologie

Year:

2004

Language:

french

File:

PDF, 357 KB

french, 2004

31

Mouse models for mitochondrial diseases

Ruzzenente, Benedetta, Rötig, Agnès, Metodiev, Metodi D.

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 385 KB

english, 2016

32

A mitochondrial cytochromebmutation but no mutations of nuclearly encoded subunits in ubiquinol cytochromecreductase (complex III) deficiency

Isabelle Valnot, Johanna Kassis, Dominique Chretien, Pascale de Lonlay, Béatrice Parfait, Arnold Munnich, Jean Kachaner, Pierre Rustin, Agnès Rötig

Journal:

Year:

1999

Language:

english

File:

PDF, 150 KB

english, 1999

33

Respiratory chain deficiency presenting as congenital nephrotic syndrome

Alice Goldenberg, Linh Huynh Ngoc, Marie-Christine Thouret, Valérie Cormier-Daire, Marie-France Gagnadoux, Dominique Chrétien, Catherine Lefrançois, Vanna Geromel, Agnès Rötig, Pierre Rustin, Arnold M

Journal:

Pediatric Nephrology

Year:

2005

Language:

english

File:

PDF, 285 KB

english, 2005

34

Hepatic mitochondrial DNA deletion in alcoholics: Association with microvesicular steatosis

Bernard Fromenty, Sylvie Grimbert, Abdellah Mansouri, Michel Beaugrand, Serge Erlinger, Agnes Rötig, Dominique Pessayre

Journal:

Gastroenterology

Year:

1995

Language:

english

File:

PDF, 1.85 MB

english, 1995

35

Combined use of Saccharomyces cerevisiae , Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases

Pitayu, Laras, Baruffini, Enrico, Rodier, Celine, Rötig, Agnès, Lodi, Tiziana, Delahodde, Agnès

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 693 KB

english, 2016

36

Pitfalls in molecular diagnosis of Friedreich ataxia

Barcia, Giulia, Rachid, Myriam, Magen, Maryse, Assouline, Zahra, Koenig, Michel, Funalot, Benoit, Barnerias, Christine, Rötig, Agnès, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.63 MB

english, 2018

37

Expanding the clinical spectrum of MTTF mutations

Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

Language:

english

File:

PDF, 421 KB

english, 2019

38

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

Christine Barnérias MD, , Irina Giurgea, Lucie Hertz-Pannier, Nadia Bahi-Buisson, Nathalie Boddaert, Pierre Rustin PhD, , Agnés Rotig, Isabelle Desguerre, Arnold Munnich, Pascale de Lonlay

Journal:

Developmental Medicine & Child Neurology

Year:

2006

Language:

english

File:

PDF, 295 KB

english, 2006

39

Iron overload and mitochondrial diseases

Pierre Rustin, Jürgen-Christoph von Kleist-Retzow, Agnès Rötig, Arnold Munnich

Journal:

Year:

1998

Language:

english

File:

PDF, 54 KB

english, 1998

40

Coenzyme Q 10 Depletion is Comparatively Less Detrimental to Human Cultured Skin Fibroblasts than Respiratory Chain Complex Deficiencies

Geromel, Vanna, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre

Journal:

Free Radical Research

Year:

2002

Language:

english

File:

PDF, 817 KB

english, 2002

41

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement

Pulman, Juliette, Ruzzenente, Benedetta, Bianchi, Lucas, Rio, Marlène, Boddaert, Nathalie, Munnich, Arnold, Rötig, Agnès, Metodiev, Metodi D

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 3.22 MB

english, 2018

42

Coamplification of Nuclear Pseudogenes and Assessment of Heteroplasmy of Mitochondrial DNA Mutations

Béatrice Parfait, Pierre Rustin, Arnold Munnich, Agnès Rötig

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 64 KB

english, 1998

43

Molecular diagnostics of mitochondrial disorders

Agnès Rötig, Sophie Lebon, Elena Zinovieva, Julie Mollet, Emmanuelle Sarzi, Jean-Paul Bonnefont, Arnold Munnich

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2004

Language:

english

File:

PDF, 118 KB

english, 2004

44

DELETION OF BLOOD MITOCHONDRIAL DNA IN PANCYTOPENIA

Rötig, Agnès, Colonna, Michel, Blanche, Stéphane, Fischer, Alain, Le Deist, Françoise, Frezal, Jean, Saudubray, Jean-Marie, Munnich, Arnold

Journal:

Year:

1988

Language:

english

File:

PDF, 351 KB

english, 1988

45

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency

Béatrice Parfait, Agnès Percheron, Dominique Chretien, Pierre Rustin, Arnold Munnich, Agnès Rötig

Journal:

Year:

1997

Language:

english

File:

PDF, 26 KB

english, 1997

46

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

Pascal Saunier, Dominique Chretien, Chantal Wood, Agnès Rötig, Jean-Paul Bonnefont, Jean-Marie Saudubray, Daniel Rabier, Arnold Munnich, Pierre Rustin

Journal:

Neuromuscular Disorders

Year:

1995

Language:

english

File:

PDF, 399 KB

english, 1995

47

Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts

Dominique Chretien, Paule Bénit, Marie Chol, Sophie Lebon, Agnès Rötig, Arnold Munnich, Pierre Rustin

Journal:

Biochemical and Biophysical Research Communications

Year:

2003

Language:

english

File:

PDF, 91 KB

english, 2003

48

Sequence and structure of the human OXA1L gene and its upstream elements

Agnès Rötig, Béatrice Parfait, Laurence Heidet, Geneviève Dujardin, Pierre Rustin, Arnold Munnich

Journal:

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

Year:

1997

Language:

english

File:

PDF, 485 KB

english, 1997

49

Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations

González-Serrano, Ligia Elena, KARIM, Loukmane, PIERRE, Florian, Schwenzer, Hagen, Rotig, Agnès, Munnich, Arnold, Sissler, Marie

Journal:

Journal of Biological Chemistry

Year:

2018

Language:

english

File:

PDF, 5.83 MB

english, 2018

50

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

E. Leshinsky-Silver, Anne-Sophie Lebre, Limor Minai, Ann Saada, Julie Steffann, Sarit Cohen, Agnes Rötig, Arnold Munnich, Dorit Lev, Tally Lerman-Sagie

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 349 KB

english, 2009

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