Bitoun, Marc: search on Z-Library

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1

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

Verity McClelland, Thomas Cullup, Istvan Bodi, Deborah Ruddy, Anna Buj-Bello, Valerie Biancalana, J. Boehm, Marc Bitoun, Owen Miller, Wajanat Jan, Esse Menson, Luis Amaya, John Trounce, Jocelyn Laport

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 194 KB

english, 2010

2

Neuromuscular expression of the BTB/POZ and zinc finger protein myoneurin

Carmen Cifuentes-Diaz, Marc Bitoun, Daniele Goudou, Nadia Seddiqi, Norma Romero, François Rieger, Jean-Pierre Perin, Patrick M. Alliel

Journal:

Year:

2004

Language:

english

File:

PDF, 309 KB

english, 2004

3

Taurine Down-Regulates Basal and Osmolarity-Induced Gene Expression of Its Transporter, but Not the Gene Expression of Its Biosynthetic Enzymes, in Astrocyte Primary Cultures

Marc Bitoun, Marcel Tappaz

Journal:

Journal of Neurochemistry

Year:

2000

Language:

english

File:

PDF, 390 KB

english, 2000

4

Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin

Ali, Tayyibah, Bednarska, Joanna, Vassilopoulos, Stéphane, Tran, Martin, Diakonov, Ivan A., Ziyadeh-Isleem, Azza, Guicheney, Pascale, Gorelik, Julia, Korchev, Yuri E., Reilly, Mary M., Bitoun, Marc, S

Journal:

The FASEB Journal

Year:

2019

File:

PDF, 2.39 MB

2019

5

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Elise Schaefer, Hatice Karasoy, Melissa A. Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicola

Journal:

Year:

2012

Language:

english

File:

PDF, 615 KB

english, 2012

6

Reducing dynamin 2 (DNM2) rescues DNM2 -related dominant centronuclear myopathy

Buono, Suzie, Ross, Jacob A., Tasfaout, Hichem, Levy, Yotam, Kretz, Christine, Tayefeh, Leighla, Matson, John, Guo, Shuling, Kessler, Pascal, Monia, Brett P., Bitoun, Marc, Ochala, Julien, Laporte, Jo

Journal:

Proceedings of the National Academy of Sciences

Year:

2018

Language:

english

File:

PDF, 1.60 MB

english, 2018

7

Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model

Fongy, Anaïs, Falcone, Sestina, Lainé, Jeanne, Prudhon, Bernard, Martins-Bach, Aurea, Bitoun, Marc

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 4.56 MB

english, 2019

8

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings

Marc Bitoun, Tanya Stojkovic, Bernard Prudhon, Claude-Alain Maurage, Philippe Latour, Patrick Vermersch, Pascale Guicheney

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 814 KB

english, 2008

9

Gene expression of taurine transporter and taurine biosynthetic enzymes in brain of rats with acute or chronic hyperosmotic plasma: A comparative study with gene expression of myo-inositol transporter, betaine transporter and sorbitol biosynthetic enzyme

Marc Bitoun, Marcel Tappaz

Journal:

Molecular Brain Research

Year:

2000

Language:

english

File:

PDF, 641 KB

english, 2000

10

Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing

Trochet, Delphine, Prudhon, Bernard, Jollet, Arnaud, Lorain, Stéphanie, Bitoun, Marc

Journal:

Molecular Therapy — Nucleic Acids

Year:

2016

Language:

english

File:

PDF, 2.81 MB

english, 2016

11

Colonoscopy of acute colitis

Franck Carbonnel, Anne Lavergne, Marc Lémann, Alain Bitoun, Patrice Valleur, Pierre Hautefeuille, Annie Galian, Robert Modigliani, Jean-Claude Rambaud

Journal:

Digestive Diseases and Sciences

Year:

1994

Language:

english

File:

PDF, 1.82 MB

english, 1994

12

Caractéristiques et prise en charge thérapeutique des patients atteints de sclérose en plaques rémittente-récurrente – Données issues du Registre Lorrain des Scléroses en Plaques

Epstein, Jonathan, Mathey, Guillaume, Guillemin, Francis, Debouverie, Marc, Tehard, Bertrand, Bitoun, Laurence, Depoortere, Paul Henri

Journal:

Revue Neurologique

Year:

2018

Language:

french

File:

PDF, 168 KB

french, 2018

13

Expression of the transcriptional repressor gene myoneurin at the neuromuscular junction, during mouse development and in the adult

Patrick M. Alliel, Carmen Cifuentès-Diaz, Marc Bitoun, François Rieger, Danièle Goudou, Pierre Périn

Journal:

Journal of Physiology-Paris

Year:

2006

Language:

english

File:

PDF, 87 KB

english, 2006

14

Mutations in dynamin 2 cause dominant centronuclear myopathy

Bitoun, Marc, Maugenre, Svetlana, Jeannet, Pierre-Yves, Lacène, Emmanuelle, Ferrer, Xavier, Laforêt, Pascal, Martin, Jean-Jacques, Laporte, Jocelyn, Lochmüller, Hanns, Beggs, Alan H

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 211 KB

english, 2005

15

Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model

Fongy, Anaïs, Falcone, Sestina, Lainé, Jeanne, Prudhon, Bernard, Martins-Bach, Aurea, Bitoun, Marc

Journal:

Scientific Reports

Year:

2019

File:

PDF, 4.56 MB

2019

16

A Centronuclear Myopathy – Dynamin 2 Mutation Impairs Autophagy in Mice

Anne-Cécile Durieux, Stéphane Vassilopoulos, Jeanne Lainé, Bodvaël Fraysse, Laura Briñas, Bernard Prudhon, Josiane Castells, Damien Freyssenet, Gisèle Bonne, Pascale Guicheney, Marc Bitoun

Journal:

Year:

2012

Language:

english

File:

PDF, 19.78 MB

english, 2012

17

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

Elise Schaefer, Myriam Durand, Corinne Stoetzel, Bérénice Doray, Brigitte Viville, Sophie Hellé, Jean-Marc Danse, Christian Hamel, Pierre Bitoun, Alice Goldenberg, Sonia Finck, Laurence Faivre, Sabine

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 120 KB

english, 2011

18

Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy

Fraysse, Bodvaël, Guicheney, Pascale, Bitoun, Marc

Journal:

Year:

2016

Language:

english

File:

PDF, 472 KB

english, 2016

19

Dynamin 2 and human diseases

Anne-Cécile Durieux, Bernard Prudhon, Pascale Guicheney, Marc Bitoun

Journal:

Journal of Molecular Medicine

Year:

2010

Language:

english

File:

PDF, 380 KB

english, 2010

20

A New 2 Litre Gut Lavage Solution: Results of a Prospective Randomised Multicentre Controlled Trial Comparing a PEG + Ascorbic Acid Solution Versus a Sodium Phosphate Solution

Marc Barthet, Thierry Ponchon, Benoit Coffin, Alain Bitoun, Cecile Dugue, Marc Halphen

Journal:

Gastrointestinal Endoscopy

Year:

2004

Language:

english

File:

PDF, 79 KB

english, 2004

21

Impaired excitation-contraction coupling in muscle fibres from the dynamin2 R465W mouse model of centronuclear myopathy

Kutchukian, Candice, Szentesi, Peter, Allard, Bruno, Trochet, Delphine, Beuvin, Maud, Berthier, Christine, Tourneur, Yves, Guicheney, Pascale, Csernoch, Laszlo, Bitoun, Marc, Jacquemond, Vincent

Journal:

The Journal of Physiology

Year:

2017

Language:

english

File:

PDF, 2.69 MB

english, 2017

22

Des mutations de la dynamine 2 Ã lâorigine de la forme dominante de la myopathie centronuclÃ©aire

Bitoun, Marc, Romero, Norma B., Guicheney, Pascale

Journal:

médecine/sciences

Year:

2006

File:

PDF, 75 KB

2006

23

A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy

Puri, Claudia, Manni, Marco M., Vicinanza, Mariella, Hilcenko, Christine, Zhu, Ye, Runwal, Gautam, Stamatakou, Eleanna, Menzies, Fiona M., Mamchaoui, Kamel, Bitoun, Marc, Rubinsztein, David C.

Journal:

Developmental Cell

Year:

2020

File:

PDF, 8.63 MB

2020

24

Characterization of the cDNA Coding for Rat Brain Cysteine Sulfinate Decarboxylase : Brain and Liver Enzymes Are Identical Proteins Encoded by Two Distinct mRNAs

Marcel Tappaz, Marc Bitoun, Isabelle Reymond, Alain Sergeant

Journal:

Journal of Neurochemistry

Year:

1999

Language:

english

File:

PDF, 259 KB

english, 1999

25

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

Marc Bitoun, Anne-Cécile Durieux, Bernard Prudhon, Jorge A. Bevilacqua, Adrien Herledan, Vehary Sakanyan, Andoni Urtizberea, Luis Cartier, Norma B. Romero, Pascale Guicheney

Journal:

Year:

2009

Language:

english

File:

PDF, 427 KB

english, 2009

26

“Necklace” fibers, a new histological marker of late-onsetMTM1-related centronuclear myopathy

Jorge A. Bevilacqua, Marc Bitoun, Valérie Biancalana, Anders Oldfors, Gisela Stoltenburg, Kristl G. Claeys, Emmanuelle Lacène, Guy Brochier, Linda Manéré, Pascal Laforêt, Bruno Eymard, Pascale Guichen

Journal:

Acta Neuropathologica

Year:

2009

Language:

english

File:

PDF, 588 KB

english, 2009

27

Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders

Malfatti, Edoardo, Olivé, Montse, Taratuto, Ana Lía, Richard, Pascale, Brochier, Guy, Bitoun, Marc, Gueneau, Lucie, Laforêt, Pascal, Stojkovic, Tanya, Maisonobe, Thierry, Monges, Soledad, Lubieniecki,

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2013

Language:

english

File:

PDF, 25.27 MB

english, 2013

28

Gene expression of the transporters and biosynthetic enzymes of the osmolytes in astrocyte primary cultures exposed to hyperosmotic conditions

Marc Bitoun, Marcel Tappaz

Journal:

Year:

2000

Language:

english

File:

PDF, 215 KB

english, 2000

29

Meta-Analysis to Assess the Influence of Two Different Schedules of Intake on the Efficacy, Acceptability and Safety of a New 2 Litre PEG+E Gut Cleansing Solution

Christian Ell, Andre Bitoun, Karl-Josef Goerg, Marc Halphen, Hans-Juergen Gruss

Journal:

Gastrointestinal Endoscopy

Year:

2005

Language:

english

File:

PDF, 60 KB

english, 2005

30

Genetic Heterogeneity of Usher Syndrome Type 1 in French Families

Dominique Larget-Piet, Sylvie Gerber, Dominique Bonneau, Jean-Michel Rozet, Sophie Marc, Ihmad Ghazi, Jean-Louis Dufier, Albert David, Pierre Bitoun, Jean Weissenbach, Arnold Munnich, Josseline Kaplan

Journal:

Year:

1994

File:

PDF, 349 KB

1994

31

Role of dynamin 2 in the disassembly of focal adhesions

BriÃ±as, Laura, Vassilopoulos, StÃ©phane, Bonne, GisÃ¨le, Guicheney, Pascale, Bitoun, Marc

Journal:

Journal of Molecular Medicine

Year:

2013

Language:

english

File:

PDF, 439 KB

english, 2013

32

Loss of Dynamin 2 GTPase function results in microcytic anaemia

Brown, Fiona C., Collett, Michael, Tremblay, Cedric S., Rank, Gerhard, De Camilli, Pietro, Booth, Carmen J., Bitoun, Marc, Robinson, Phillip J., Kile, Benjamin T., Jane, Stephen M., Curtis, David J.

Journal:

British Journal of Haematology

Year:

2017

Language:

english

File:

PDF, 816 KB

english, 2017

33

Gene Therapy via Trans-Splicing for LMNA -related Congenital Muscular Dystrophy

Azibani, Feriel, Brull, Astrid, Arandel, Ludovic, Beuvin, Maud, Nelson, Isabelle, Jollet, Arnaud, Ziat, Esma, Prudhon, Bernard, Benkhelifa-Ziyyat, Sofia, Bitoun, Marc, Lorain, Stéphanie, Bonne, Gisèle

Journal:

Molecular Therapy — Nucleic Acids

Year:

2017

Language:

english

File:

PDF, 2.75 MB

english, 2017

34

Caractéristiques et prise en charge thérapeutique des patients atteints de sclérose en plaques primaire progressive – Données issues du Registre Lorrain des Scléroses en Plaques (RelSEP)

Epstein, Jonathan, Mathey, Guillaume, Guillemin, Francis, Debouverie, Marc, Bitoun, Laurence, Depoortere, Paul Henri, Pau, David

Journal:

Revue Neurologique

Year:

2018

Language:

french

File:

PDF, 168 KB

french, 2018

35

Gene expression of the taurine transporter and taurine biosynthetic enzymes in rat kidney after antidiuresis and salt loading

Marc Bitoun, Olivier Levillain, Marcel Tappaz

Journal:

Pflügers Archiv European Journal of Physiology

Year:

2001

Language:

english

File:

PDF, 268 KB

english, 2001

36

Centronuclear Myopathies

Norma B. Romero, Marc Bitoun

Journal:

Seminars in Pediatric Neurology

Year:

2011

Language:

english

File:

PDF, 2.82 MB

english, 2011

37

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

Marc Bitoun, Jorge A. Bevilacqua, Bernard Prudhon, Svetlana Maugenre, Ana Lia Taratuto, Soledad Monges, Fabiana Lubieniecki, Claude Cances, Emmanuelle Uro-Coste, Michèle Mayer, Michel Fardeau, Norma B

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 1.16 MB

english, 2007

38

Erythromycin improves the quality of EGD in patients with acute upper GI bleeding: A randomized controlled study

Benoit Coffin, Marc Pocard, Yves Panis, Florence Riche, Marie-Jo Lainé, Alain Bitoun, Marc Lémann, Yoram Bouhnik, Patrice Valleur

Journal:

Gastrointestinal Endoscopy

Year:

2002

Language:

english

File:

PDF, 67 KB

english, 2002

39

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Heinz Jungbluth, Haiyan Zhou, Caroline A. Sewry, Stephanie Robb, Susan Treves, Marc Bitoun, Pascale Guicheney, Anna Buj-Bello, Carsten Bönnemann, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 1.09 MB

english, 2007

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