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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

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

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:

Year:

1995

Language:

english

File:

PDF, 493 KB

english, 1995

4

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

5

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

6

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

7

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

8

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

9

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

10

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

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

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

13

Bezafibrate as treatment option in patients with mitochondrial complex I deficiency

Freisinger, P., Haberberger, B., Strecker, V., Steger, M., Heim, K., Ahting, U., Rolinski, B., Mayr, J., Rötig, A., Sperl, W., Zeviani, M., Wittig, I., Meitinger, T., Prokisch, H.

Journal:

Year:

2013

Language:

english

File:

PDF, 77 KB

english, 2013

14

Séquençage, exome et maladies mitochondriales

Rötig, A., Rio, M., Munnich, A.

Journal:

Archives de Pédiatrie

Year:

2014

Language:

french

File:

PDF, 112 KB

french, 2014

15

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

16

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

17

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

18

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

19

Craniofacial anomalies and malformations in respiratory chain deficiency

Cormier-Daire, V., Rustin, P., Rötig, A., Chrétien, D., Le Merrer, M., Belli, D., Le Goff, A., Hubert, P., Ricour, C., Munnich, A.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 683 KB

english, 1996

20

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

Emmanuelle Sarzi, Michael D. Brown, Sophie Lebon, Dominique Chretien, Arnold Munnich, Agnès Rotig, Vincent Procaccio

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 156 KB

english, 2007

21

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion

Emmanuelle Sarzi, Steffi Goffart, Valérie Serre, Dominique Chrétien, Abdelhamid Slama, Arnold Munnich, Johannes N. Spelbrink, Agnès Rötig

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 681 KB

english, 2007

22

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

Paule Bénit, Réjane Beugnot, Dominique Chretien, Irina Giurgea, Pascale De Lonlay-Debeney, Jean-Paul Issartel, Marisol Corral-Debrinski, Stefan Kerscher, Pierre Rustin, Agnès Rötig, Arnold Munnich

Journal:

Year:

2003

Language:

english

File:

PDF, 140 KB

english, 2003

23

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

24

News in Ubiquinone Biosynthesis

Journal:

Chemistry & Biology

Year:

2010

Language:

english

File:

PDF, 148 KB

english, 2010

25

Cytochrome c oxidase assay in minute amounts of human skeletal muscle using single wavelength spectrophotometers

Òscar Miró, Francesc Cardellach, Antoni Barrientos, Jordi Casademont, Agnés Rötig, Pierre Rustin

Journal:

Journal of Neuroscience Methods

Year:

1998

Language:

english

File:

PDF, 150 KB

english, 1998

26

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

27

Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome

L. Martin, A. Toutain, C. Guillen, M. Haftek, M.C. Machet, C. Toledano, B. Arbeille, G. Lorette, A. Rötig, L. Vaillant

Journal:

British Journal of Dermatology

Year:

2000

Language:

english

File:

PDF, 494 KB

english, 2000

28

Mitochondrial activities in human cultured skin fibroblasts contaminated byMycoplasma hyorhinis

Niklas Darin, Norman Kadhom, Jean-Jacques Brière, Dominique Chretien, Cécile M Bébéar, Agnès Rötig, Arnold Munnich, Pierre Rustin

Journal:

BMC Biochemistry

Year:

2003

Language:

english

File:

PDF, 601 KB

english, 2003

29

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

30

Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous

Thomas Bourgeron, Dominique Chrétien, Agnès Rötig, Arnold Munnich, Pierre Rustin

Journal:

Prenatal Diagnosis

Year:

1992

Language:

english

File:

PDF, 169 KB

english, 1992

31

Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion

H. J. Simonsz, K. Bärlocher, A. Rötig

Journal:

Documenta Ophthalmologica

Year:

1992

Language:

english

File:

PDF, 2.27 MB

english, 1992

32

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency

Anna Pelet, Agnès Rotig, Catherine Bonaïti-Pellié, Daniel Rabier, Valérie Cormier, Elias Toumas, Danièle Hentzen, Jean-Marie Saudubray, Arnold Munnich

Journal:

Year:

1990

Language:

english

File:

PDF, 498 KB

english, 1990

33

Muscle mitochondrial DNA in encephalomyopathy and ragged red fibres: a Southern blot analysis and literature review

C. Geny, V. Cormier, C. Meyrignac, P. Cesaro, J. D. Degos, R. Gherardi, A. Rötig

Journal:

Journal of Neurology

Year:

1991

Language:

english

File:

PDF, 700 KB

english, 1991

34

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)

A. Rötig, V. Cormier, P. Chatelain, R. Francois, J. -M. Saudubray, P. Rustin, A. Munnich

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 203 KB

english, 1993

35

Pearson syndrome: Altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities

A. Ribes, E. Riudor, R. Valcárel, A. Salvá, F. Castelló, S. Murillo, C. Dominguez, A. Rötig, C. Jakobs

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 204 KB

english, 1993

36

The investigation of respiratory chain disorders in heart using endomyocardial biopsies

P. Rustin, J. Lebidois, D. Chretien, T. Bourgeron, J. -F. Piechaud, A. Rötig, D. Sidi, A. Munnich

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 224 KB

english, 1993

37

Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome

Patrick Niaudet, Laurence Heidet, Arnold Munnich, Jacques Schmitz, François Bouissou, Marie Claire Gubler, Agnès Rötig

Journal:

Pediatric Nephrology

Year:

1994

Language:

english

File:

PDF, 1024 KB

english, 1994

38

Renal involvement in mitochondrial cytopathies

Patrick Niaudet, Agnès Rötig

Journal:

Pediatric Nephrology

Year:

1996

Language:

english

File:

PDF, 804 KB

english, 1996

39

Clinical presentation of mitochondrial disorders in childhood

A. Munnich, A. Rötig, D. Chretien, V. Cormier, T. Bourgeron, J. -P. Bonnefont, J. -M. Saudubray, P. Rustin

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 596 KB

english, 1996

40

Clinical aspects of mitochondrial disorders

A. Munnich, P. Rustin, A. Rötig, D. Chretien, J.-P. Bonnefont, C. Nuttin, V. Cormier, A. Vassault, P. Parvy, J. Bardet, C. Charpentier, D. Rabier, J.-M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 600 KB

english, 1992

41

Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts

B. Gérard, T. Bourgeron, D. Chretien, A. Rötig, A. Munnich, P. Rustin

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 126 KB

english, 1993

42

3-Methylglutaconic aciduria in a patient with Pearson syndrome

U. Lichter-Konecki, F. K. Trefz, A. Rötig, A. Munnich, A. Pfeil, H. J. Bremer

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 255 KB

english, 1993

43

Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure

Patrick Edery, Bénédicte Gérard, Dominique Chretien, Agnès Rötig, Roberto Cerrone, Daniel Rabier, Caroline Rambaud, Monique Fabre, Jean-Marie Saudubray, Arnold Munnich, Pierre Rustin

Journal:

European Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 796 KB

english, 1994

44

Clinical presentations and laboratory investigations in respiratory chain deficiency

Arnold Munnich, Agnès Rötig, Dominique Chretien, JeanMarie Saudubray, Valérie Cormier, Pierre Rustin

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 1.31 MB

english, 1996

45

Mitochondrial DNA deletion in an 8-year-old boy with pearson syndrome

K. E. Baerlocher, A. Feldges, M. Weissert, H. J. Simonsz, A. Rötig

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 284 KB

english, 1992

46

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

B. Parfait, P. de Lonlay, J. C. von Kleist-Retzow, V. Cormier-Daire, D. Chrétien, A. Rötig, D. Rabier, J. M. Saudubray, P. Rustin, A. Munnich

Journal:

European Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 100 KB

english, 1999

47

Homologous and heterologous expression of a ribosomal protein gene inPodospora anserinarequires an intron

M. Dequard-Chablat, A. Rötig

Journal:

Molecular Genetics and Genomics

Year:

1997

Language:

english

File:

PDF, 459 KB

english, 1997

48

Haploinsufficiency of theGPD2gene in a patient with nonsyndromic mental retardation

Hussein Daoud, Nicolas Gruchy, Jean-Marc Constans, Edgar Moussaoui, Simone Saumureau, Nadia Bayou, Maïté Amy, Sylviane Védrine, Phi Yen Vu, Agnès Rötig, Frédéric Laumonnier, Patrick Vourc’h, Christian

Journal:

Year:

2009

Language:

english

File:

PDF, 499 KB

english, 2009

49

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

50

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

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