Joël. Lunardi: search on Z-Library

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1

A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy

Remiche, Gauthier, Kadhim, Hazim, Abramowicz, Marc, Mavroudakis, Nicolas, Monnier, Nicole, Lunardi, Joël

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.43 MB

english, 2015

2

The mitochondrial antioxidant defence system and its response to oxidative stress

Thierry Rabilloud, Manfred Heller, Maria-Pia Rigobello, Alberto Bindoli, Ruedi Aebersold, Joël Lunardi

Journal:

Year:

2001

Language:

english

File:

PDF, 113 KB

english, 2001

3

Improvement of the solubilization of proteins in two-dimensional electrophoresis with immobilized pH gradients

Dr. Thierry Rabilloud, Céline Adessi, Anne Giraudel, Joël Lunardi

Journal:

ELECTROPHORESIS

Year:

1997

Language:

english

File:

PDF, 1020 KB

english, 1997

4

Two-dimensional electrophoresis of human placental mitochondria and protein identification by mass spectrometry: Toward a human mitochondrial proteome

Dr. Thierry Rabilloud, Sylvie Kieffer, Vincent Procaccio, Mathilde Louwagie, Paul L. Courchesne, Scott D. Patterson, Pascal Martinez, Jerome Garin, Joël Lunardi

Journal:

ELECTROPHORESIS

Year:

1998

Language:

english

File:

PDF, 1.01 MB

english, 1998

5

A comparison between Sypro Ruby and ruthenium II tris (bathophenanthroline disulfonate) as fluorescent stains for protein detection in gels

Thierry Rabilloud, Jean-Marc Strub, Sylvie Luche, Alain van Dorsselaer, Joël Lunardi

Journal:

Year:

2001

Language:

english

File:

PDF, 113 KB

english, 2001

6

Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms

Cécile Batandier, Aleth Picard, Nadine Tessier, Joël Lunardi

Journal:

Year:

2000

Language:

english

File:

PDF, 8 KB

english, 2000

7

OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling

Nicole Monnier, Véronique Satre, Eliane Lerouge, Florence Berthoin, Joël Lunardi

Journal:

Year:

2000

Language:

english

File:

PDF, 290 KB

english, 2000

8

YY1 and Sp1 activate transcription of the human NDUFS8 gene encoding the mitochondrial complex I TYKY subunit

Pierre Lescuyer, Pascal Martinez, Joël Lunardi

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

2002

Language:

english

File:

PDF, 698 KB

english, 2002

9

A TPM3 mutation causing cap myopathy

Andre Maues De Paula, Jerome Franques, Carla Fernandez, Nicole Monnier, Joel Lunardi, Jean-François Pellissier, Dominique Figarella-Branger, Jean Pouget

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 467 KB

english, 2009

10

Le récepteur de la ryanodine de type I

Lunardi, Joël, Fauré, Julien, Marty, Isabelle, Monnier, Nicole

Journal:

médecine/sciences

Year:

2008

Language:

french

File:

PDF, 108 KB

french, 2008

11

Mutations inOCRL1gene in Indian children with Lowe syndrome

Sidharth Kumar Sethi, Arvind Bagga, Ashima Gulati, Pankaj Hari, Neerja Gupta, Joel Lunardi

Journal:

Clinical and Experimental Nephrology

Year:

2008

Language:

english

File:

PDF, 227 KB

english, 2008

12

Abnormal Distribution of Calcium-Handling Proteins

Herasse, Muriel, Parain, Karine, Marty, Isabelle, Monnier, Nicole, Kaindl, Angela M., Leroy, Jean-Paul, Richard, Pascale, Lunardi, Jöel, Romero, Norma B., Ferreiro, Ana

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2007

Language:

english

File:

PDF, 1.01 MB

english, 2007

13

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

Bernadette M. Manning, Kathleen A. Quane, Patrick J. Lynch, Albert Urwyler, Vincenzo Tegazzin, Renee Krivosic-Horber, Kathrin Censier, Giacomo Comi, Pascal Adnet, Werner Wolz, Joel Lunardi, Clemens R.

Journal:

Year:

1998

Language:

english

File:

PDF, 168 KB

english, 1998

14

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9–11 November 2002, Naarden, The Netherlands

Heinz Jungbluth, Alan Beggs, Carsten Bönnemann, Kate Bushby, Chantal Ceuterick-de Groote, Brigitte Estournet-Mathiaud, Nathalie Goemans, Pascale Guicheney, Alain Lescure, Joël Lunardi, Francesco Munto

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 160 KB

english, 2004

15

short report: Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders

Dominique Lasne, Geneviève Baujat, Tristan Mirault, Joël Lunardi, Françoise Grelac, Marion Egot, Rémi Salomon, Christilla Bachelot-Loza

Journal:

British Journal of Haematology

Year:

2010

Language:

english

File:

PDF, 86 KB

english, 2010

16

Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia

Guis, Sandrine, Figarella-Branger, Dominique, Monnier, Nicole, Bendahan, David, Kozak-Ribbens, Geneviève, Mattei, Jean-Pierre, Lunardi, Joël, Cozzone, Patrick J., Pellissier, Jean-François

Journal:

Archives of Neurology

Year:

2004

Language:

english

File:

PDF, 218 KB

english, 2004

17

[Methods in Enzymology] Biomembranes Part Q: ATP-Driven Pumps and Related Transport: Calcium, Proton, and Potassium Pumps Volume 157 || [30] Modification of phospholipid environment in sarcoplasmic reticulum using nonspecific phospholipid transfer protein

Year:

1988

Language:

english

File:

PDF, 487 KB

english, 1988

18

Photolabeling of the phosphate binding site of mitochondrial F1-ATPase by [32P]azidonitrophenyl phosphate. Identification of the photolabeled amino acid residues

Garin, Jerome, Michel, Laurent, Dupuis, Alain, Issartel, Jean Paul, Lunardi, Joel, Hoppe, Juergen, Vignais, Pierre

Journal:

Year:

1989

Language:

english

File:

PDF, 1.34 MB

english, 1989

19

Frigoconservação e controle de podridões em laranja ‘valência’

Brackmann, Auri, Lunardi, Rosangela, Donazzolo, Joel

Journal:

Year:

1999

File:

PDF, 45 KB

1999

20

Toward a Characterization of the Connecting Module of Complex I

Alain Dupuis, Isabelle Prieur, Joël Lunardi

Journal:

Journal of Bioenergetics and Biomembranes

Year:

2001

Language:

english

File:

PDF, 770 KB

english, 2001

21

Identification of five Rhodobacter capsulatus genes encoding the equivalent of ND subunits of the mitochondrial NADH-ubiquinone oxidoreductase

Alain Dupuis, André Peinncquin, Mireille Chevallet, Joël Lunardi, Elisabeth Darrouzet, Béatrice Pierrard, Vincent Procaccio, Jean-Paul Issartel

Journal:

Year:

1995

Language:

english

File:

PDF, 499 KB

english, 1995

22

Exploration of adenosine 5'-diphosphate-adenosine 5'-triphosphate binding sites of Escherichia coli adenosine 5'-triphosphatase with arylazido adenine nucleotides

Lunardi, Joel, Satre, Michel, Vignais, Pierre V.

Journal:

Year:

1981

Language:

english

File:

PDF, 2.42 MB

english, 1981

23

Evidence for a quinone binding site close to the interface between NUOD and NUOB subunits of Complex I

Isabelle Prieur, Joël Lunardi, Alain Dupuis

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2001

Language:

english

File:

PDF, 686 KB

english, 2001

24

Reactivity of the .beta. subunit of Escherichia coli adenosine triphosphatase with 4-chloro-7-nitrobenzofurazan

Lunardi, Joel, Satre, Michel, Bof, Mireille, Vignais, Pierre V.

Journal:

Year:

1979

Language:

english

File:

PDF, 1.52 MB

english, 1979

25

New zwitterionic detergents improve the analysis of membrane proteins by two-dimensional electrophoresis

Mireille Chevallet, Véronique Santoni, Alexandra Poinas, David Rouquié, Alexandra Fuchs, Sylvie Kieffer, Sylvie Kieffer, Joël Lunardi, Jérome Garin, Dr. Thierry Rabilloud

Journal:

ELECTROPHORESIS

Year:

1998

Language:

english

File:

PDF, 1.09 MB

english, 1998

26

Antenatal diagnosis of Lowe syndrome

Sidharth Kumar Sethi, Joel Lunardi, Madhulika Kabra, Deepika Deka, Arvind Bagga

Journal:

Clinical and Experimental Nephrology

Year:

2010

Language:

english

File:

PDF, 207 KB

english, 2010

27

Effect of the natural ATPase inhibitor on the binding of adenine nucleotides and inorganic phosphate to mitochondrial F1-ATPase

Gérard Klein, Joel Lunardi, Pierre V. Vignais

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

1981

Language:

english

File:

PDF, 549 KB

english, 1981

28

Ruthenium II tris (bathophenanthroline disulfonate), a powerful fluorescent stain for detection of proteins in gel with minimal interference in subsequent mass spectrometry analysis

Thierry Rabilloud, Jean-Marc Strub, Sylvie Luche, Jean Luc Girardet, Alain van Dorsselaer, Joël Lunardi

Journal:

Year:

2000

Language:

english

File:

PDF, 202 KB

english, 2000

29

Characterisation of a new C1 inhibitor mutant in a patient with hepatocellular carcinoma

Nicole Monnier, Denise Ponard, Christiane Duponchel, Françoise Csopaki, Laurence Bouillet, Mario Tosi, Joel Lunardi, Christian Drouet

Journal:

Molecular Immunology

Year:

2006

Language:

english

File:

PDF, 410 KB

english, 2006

30

The 49-kDa subunit of NADH-ubiquinone oxidoreductase (Complex I) is involved in the binding of piericidin and rotenone, two quinone-related inhibitors

Elisabeth Darrouzet, Jean-Paul Issartel, Joël Lunardi, Alain Dupuis

Journal:

Year:

1998

Language:

english

File:

PDF, 271 KB

english, 1998

31

The nuoM arg368his mutation in NADH:ubiquinone oxidoreductase from Rhodobacter capsulatus: a model for the human nd4-11778 mtDNA mutation associated with Leber’s hereditary optic neuropathy

Joël Lunardi, Elisabeth Darrouzet, Alain Dupuis, Jean-Paul Issartel

Journal:

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

Year:

1998

Language:

english

File:

PDF, 365 KB

english, 1998

32

Malignant-Hyperthermia Susceptibility Is Associated with a Mutation of the a1-Subunit of the Human Dihydropyridine-Sensitive L-Type Voltage-Dependent Calcium-Channel Receptor in Skeletal Muscle

Nicole Monnier, Vincent Procaccio, Paul Stieglitz, Joël. Lunardi

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 189 KB

english, 1997

33

Prevalência de crianças respiradoras orais

Abreu, Rubens Rafael, Rocha, Regina Lunardi, Lamounier, Joel Alves, Guerra, Ângela Francisca Marques

Journal:

Jornal de Pediatria

Year:

2008

File:

PDF, 63 KB

2008

34

Genetic disruption of the respiratory NADH-ubiquinone reductase of Rhodobacter capsulatus leads to an unexpected photosynthesis-negative phenotype

Alain Dupuis, André Peinnequin, Elisabeth Darrouzet, Joël Lunardi

Journal:

FEMS Microbiology Letters

Year:

1997

Language:

english

File:

PDF, 929 KB

english, 1997

35

Genetic disruption of the respiratory NADH-ubiquinone reductase of Rhodobacter capsulatus leads to an unexpected photosynthesis-negative phenotype

Alain Dupuis, André Peinnequin, Elisabeth Darrouzet, Joël Lunardi

Journal:

FEMS Microbiology Letters

Year:

1997

Language:

english

File:

PDF, 536 KB

english, 1997

36

The NuoI Subunit of the Rhodobacter Capsulatus Respiratory Complex I (Equivalent to the Bovine TYKY Subunit) is Required for Proper Assembly of the Membraneous and Peripheral Domains of the Enzyme

Mireille Chevallet, Alain Dupuis, Joël Lunardi, Ronald Van Belzen, Simon P. J. Albracht, Jean-Paul Issartel

Journal:

Year:

1997

Language:

english

File:

PDF, 1.05 MB

english, 1997

37

Adenine nucleotide binding sites in chemically modified F1-ATPase: Inhibitory effect of 4-chloro-7-nitrobenzofurazan on photolabeling by arylazido nucleotides

Joël Lunardi, Pierre V. Vignais

Journal:

Year:

1979

Language:

english

File:

PDF, 536 KB

english, 1979

38

Génétique et hyperthermie maligne, où en est-on ?

Monnier, Nicole, Lerale, Joëlle, Lunardi, Joël

Journal:

Le Praticien en Anesthésie Réanimation

Year:

2005

Language:

french

File:

PDF, 211 KB

french, 2005

39

Exon Skipping as a Therapeutic Strategy Applied to a RyR1 Mutation Causing Severe Core Myopathy

Rendu, John, Brocard, Julie, Monnier, Nicole, Piétri-Rouxel, France, Garcia, Luis, Lunardi, Joël, Fauré, Julien, Fourest-Lieuvin, Anne, Marty, Isabelle

Journal:

Biophysical Journal

Year:

2013

Language:

english

File:

PDF, 36 KB

english, 2013

40

Two Closely Related Endocytic Proteins That Share a Common OCRL-Binding Motif with APPL1

Laura E. Swan, Livia Tomasini, Michelle Pirruccello, Joël Lunardi and Pietro De Camilli

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 1.58 MB

english, 2010

41

Mutation Screening of the RYR1 Gene in Malignant Hyperthermia: Detection of a Novel Tyr to Ser Mutation in a Pedigree with Associated Central Cores

Kathleen A. Quane, Katherine E. Keating, J.M.Sandra Healy, Bernadette M. Manning, Renee Krivosic-Horber, I. Krivosic, Nicole Monnier, Joel Lunardi, Tommie V. McCarthy

Journal:

Year:

1994

File:

PDF, 266 KB

1994

42

Studies of the nucleotide-binding sites on the mitochondrial F1-ATPase through the use of a photoactivable derivative of adenylyl imidodiphosphate

Joël Lunardi, Pierre V. Vignais

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

1982

Language:

english

File:

PDF, 808 KB

english, 1982

43

Interaction of azidonitrophenylaminobutyryl—ADP, a photoaffinity ADP analog, with mitochondrial adenosine triphosphatase. Identification of the labeled subunits

Joël Lunardi, Guy J.M. Lauquin, Pierre V. Vignais

Journal:

Year:

1977

Language:

english

File:

PDF, 545 KB

english, 1977

44

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene

Charles Coutton, Nicole Monnier, John Rendu, Joël Lunardi

Journal:

Clinical Biochemistry

Year:

2010

Language:

english

File:

PDF, 525 KB

english, 2010

45

Photoaffinity labeling of the adenine nucleotide carrier in heart and yeast mitochondria by an arylazido ADP analog

Guy J.M. Lauquin, Gérard Brandolin, Joël Lunardi, Pierre V. Vignais

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

1978

Language:

english

File:

PDF, 652 KB

english, 1978

46

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management

Nathalie Roux-Buisson, John Rendu, Isabelle Denjoy, Pascale Guicheney, Alice Goldenberg, Nadine David, Laurence Faivre, Olivier Barthez, Gian Antonio Danieli, Isabelle Marty, Joel Lunardi, Julien Faur

Journal:

Year:

2011

Language:

english

File:

PDF, 179 KB

english, 2011

47

Distal genes of the nuo operon of Rhodobacter capsulatus equivalent to the mitochondrial ND subunits are all essential for the biogenesis of the respiratory NADH–ubiquinone oxidoreductase

Alain Dupuis, Elisabeth Darrouzet, Hervé Duborjal, Béatrice Pierrard, Mireille Chevallet, Ronald Van Belzen, Simon P. J. Albracht, Joël Lunardi

Journal:

Molecular Microbiology

Year:

1998

Language:

english

File:

PDF, 532 KB

english, 1998

48

First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia

Nicole Monnier, Annie Laquerrière, Stéphane Marret, Alice Goldenberg, Isabelle Marty, Yves Nivoche, Joël Lunardi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 651 KB

english, 2009

49

Two EPR-detectable [4Fe–4S] clusters, N2a and N2b, are bound to the NuoI (TYKY) subunit of NADH:ubiquinone oxidoreductase (Complex I) from Rhodobacter capsulatus

Mireille Chevallet, Alain Dupuis, Jean-Paul Issartel, Joël Lunardi, Ronald van Belzen, Simon P.J Albracht

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2003

Language:

english

File:

PDF, 509 KB

english, 2003

50

Genomic structure of the human NDUFS8 gene coding for the iron–sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase

Régis de Sury, Pascal Martinez, Vincent Procaccio, Joël Lunardi, Jean-Paul Issartel

Journal:

Year:

1998

Language:

english

File:

PDF, 146 KB

english, 1998

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