Sternberg, Damien : rechercher sur Z-Library

Année:

2007

Langue:

english

Fichier:

PDF, 364 KB

english, 2007

Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders

Patrik Michel, Damien Sternberg, Pierre-Yves Jeannet, Murielle Dunand, Francine Thonney, Wolfram Kress, Bertrand Fontaine, Emmanuel Fournier, Thierry Kuntzer

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 191 KB

english, 2007

Homozygosity for dominant mutations increases severity of muscle channelopathies

Marianne Arzel-hézode, Damien Sternberg, Nacira Tabti, Savine Vicart, Cyril Goizet, Bruno Eymard, Bertrand Fontaine, Emmanuel Fournier

Journal:

Neven, Damien, Von Ungern-Sternberg, Thomas

Année:

2010

Langue:

english

Fichier:

PDF, 606 KB

english, 2010

Competition Policy in Switzerland

Journal:

The Antitrust Bulletin

Année:

1998

Langue:

english

Fichier:

PDF, 2.62 MB

english, 1998

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene

Sébastien Gay, Delphine Dupuis, Laurence Faivre, Alice Masurel-Paulet, Marc Labenne, Marina Colombani, Pierre Soichot, Frédéric Huet, Bernard Hainque, Damien Sternberg, Bertrand Fontaine, Jean-Bernard

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 128 KB

english, 2008

Electromyography guides toward subgroups of mutations in muscle channelopathies

Emmanuel Fournier, Marianne Arzel, Damien Sternberg, Savine Vicart, Pascal Laforet, Bruno Eymard, Jean-Claude Willer, Nacira Tabti, Bertrand Fontaine

Journal:

Annals of Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 477 KB

english, 2004

Cold extends electromyography distinction between ion channel mutations causing myotonia

Emmanuel Fournier, Karine Viala, Hélène Gervais, Damien Sternberg, Marianne Arzel-Hézode, Pascal Laforêt, Bruno Eymard, Nacira Tabti, Jean-Claude Willer, Christophe Vial, Bertrand Fontaine

Journal:

Annals of Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 477 KB

english, 2006

Hypokalemic Periodic Paralysis: A Model for a Clinical and Research Approach to a Rare Disorder

Bertrand Fontaine, Emmanuel Fournier, Damien Sternberg, Savine Vicart, Nacira Tabti

Journal:

Neurotherapeutics

Année:

2007

Langue:

english

Fichier:

PDF, 94 KB

english, 2007

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor

Chapiro, Elise, Feldmann, Delphine, Denoyelle, Françoise, Sternberg, Damien, Jardel, Claude, Eliot, Marie-Madeleine, Bouccara, Didier, Weil, Dominique, Garabédian, Eréa-Noel, Couderc, Rémy

Journal:

European Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 159 KB

english, 2002

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

Magali Bouhours, Damien Sternberg, Claire-Sophie Davoine, Ferrer Xavier, Jean Claude Willer, Bertrand Fontaine, Nacira Tabti

Journal:

Magali Bouhours, Sandrine Luce, Damien Sternberg, Jean Claude Willer, Bertrand Fontaine, Nacira Tabti

Année:

2004

Langue:

english

Fichier:

PDF, 352 KB

english, 2004

A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4–S5 linker in fast inactivation

Journal:

Saïd Bendahhou, Emmanuel Fournier, Damien Sternberg, Guillaume Bassez, Alain Furby, Carole Sereni, Matthew R. Donaldson, Marie-Madeleine Larroque, Bertrand Fontaine, Jacques Barhanin

Année:

2005

Langue:

english

Fichier:

PDF, 402 KB

english, 2005

In vivo and in vitro functional characterization of Andersen's syndrome mutations

Journal:

Thomas Carle, Emmanuel Fournier, Damien Sternberg, Bertrand Fontaine, Nacira Tabti

Année:

2005

Langue:

english

Fichier:

PDF, 312 KB

english, 2005

Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia

Journal:

Dina Simkin, Isabelle Léna, Pierre Landrieu, Laurence Lion-François, Damien Sternberg, Bertrand Fontaine, Saïd Bendahhou

Année:

2009

Langue:

english

Fichier:

PDF, 380 KB

english, 2009

Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder

Journal:

Sebastian Weinberger, Daniel Wojciechowski, Damien Sternberg, Frank Lehmann-Horn, Karin Jurkat-Rott, Toni Becher, Birgit Begemann, Christoph Fahlke, Martin Fischer

Année:

2011

Langue:

english

Fichier:

PDF, 407 KB

english, 2011

Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita

Journal:

Biochemical and Biophysical Research Communications

Année:

2012

Langue:

english

Fichier:

PDF, 2.28 MB

english, 2012

Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis

Thomas Carle, Loïc Lhuillier, Sandrine Luce, Damien Sternberg, Olivier Devuyst, Bertrand Fontaine, Nacira Tabti

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 372 KB

english, 2006

Relapses and remissions of hypokalaemic periodic paralysis and multiple sclerosis in the same patient

Lea Leonardis, Janez Zidar, Anne Le Bail, Damien Sternberg

Journal:

Clinical Neurology and Neurosurgery

Année:

2011

Langue:

english

Fichier:

PDF, 659 KB

english, 2011

Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family

Dismand Houinato, Anatole Laleye, Constant Adjien, Marius Adjagba, Damien Sternberg, Pascale Hilbert, Jean-Michel Vallat, Raphaël Barthélémy Darboux, Benoît Funalot, Dossou Gilbert Avode

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 524 KB

english, 2007

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

Nicolas Dupré, Nicolas Chrestian, Jean-Pierre Bouchard, Elsa Rossignol, Denis Brunet, Damien Sternberg, Bernard Brais, Jean Mathieu, Jack Puymirat

Journal:

Marianne Arzel-Hézode, Suzanne McGoey, Damien Sternberg, Savine Vicart, Bruno Eymard, Bertrand Fontaine

Année:

2009

Langue:

english

Fichier:

PDF, 147 KB

english, 2009

Glucocorticoids may trigger attacks in several types of periodic paralysis

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 133 KB

english, 2009

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function

Guillemette Fayet, Monica Jansson, Damien Sternberg, Ali-Reza Moslemi, Patricia Blondy, Anne Lombès, Michel Fardeau, Anders Oldfors

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 340 KB

english, 2002

Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection

Claude Danan, Damien Sternberg, André Van Steirteghem, Cécile Cazeneuve, Philippe Duquesnoy, Claude Besmond, Michel Goossens, Willy Lissens, Serge Amselem

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 296 KB

english, 1999

Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis

Emmanuelle Girodon, Damien Sternberg, Olivier Chazouillères, Cécile Cazeneuve, Danielle Huot, Yvon Calmus, Raoul Poupon, Michel Goossens, Chantal Housset

Journal:

Journal of Hepatology

Année:

2002

Langue:

english

Fichier:

PDF, 90 KB

english, 2002

Atypical nuclear abnormalities in a patient with Brody disease

Mussini, Jean-Marie, Magot, Armelle, Hantaï, Daniel, Sternberg, Damien, Chevessier, Frédéric, Péréon, Yann

Journal:

Mejlachowicz, Dan, Nolent, Flora, Maluenda, Jérome, Ranjatoelina-Randrianaivo, Hanitra, Giuliano, Fabienne, Gut, Ivo, Sternberg, Damien, Laquerrière, Annie, Melki, Judith

Année:

2015

Langue:

english

Fichier:

PDF, 4.13 MB

english, 2015

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 432 KB

english, 2015

Functional Mitochondrial Heterogeneity in Heteroplasmic Cells Carrying the Mitochondrial DNA Mutation Associated with the MELAS Syndrome (Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes)

Bakker, Annette, Barthélémy, Cyrille, Frachon, Paule, Chateau, Danielle, Sternberg, Damien, Mazat, Jean Pierre, Lombès, Anne

Journal:

Pediatric Research

Année:

2000

Fichier:

PDF, 2.08 MB

2000

Functional Mitochondrial Heterogeneity in Heteroplasmic Cells Carrying the Mitochondrial DNA Mutation Associated with the MELAS Syndrome (Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes)

Bakker, Annette, Barthélémy, Cyrille, Frachon, Paule, Chateau, Danielle, Sternberg, Damien, Mazat, Jean Pierre, Lombès, Anne

Journal:

Pediatric Research

Année:

2000

Langue:

english

Fichier:

PDF, 2.08 MB

english, 2000

Mitochondrial Damage Associated With Long-Term Antiretroviral Treatment: Associated Alteration or Causal Disorder?

Vittecoq, Daniel, Jardel, Claude, Barthélémy, Cyrille, Escaut, Lélia, Cheminot, Nathalie, Chapin, Sandrine, Sternberg, Damien, Maisonobe, Thierry, Lombès, Anne

Journal:

JAIDS Journal of Acquired Immune Deficiency Syndromes

Année:

2002

Fichier:

PDF, 6.82 MB

2002

Autosomal Recessive Inheritance of Congenital Myasthenic Syndrome is Associated with Skeletal Muscle Sodium Channel Mutations

Habbout, Karima, Guiliano, Serena, Poulin, Hugo, Sternberg, Damien, Eymard, Bruno, Rivier, François, Juntas Morales, Raul, Chahine, Mohamed, Nicole, Sophie, Bendahhou, Saïd

Journal:

Biophysical Journal

Année:

2015

Langue:

english

Fichier:

PDF, 49 KB

english, 2015

A Novel Mitochondrial DNA tRNAIle (m.4322dupC) Mutation Associated With Idiopathic Dilated Cardiomyopathy

Mahjoub, Sinda, Sternberg, Damien, Boussaada, Rafik, Filaut, Sandrine, Gmira, Fathi, Mechmech, Rachid, Jardel, Claude, Arab, Saïda Ben

Journal:

Diagnostic Molecular Pathology

Année:

2007

Langue:

english

Fichier:

PDF, 487 KB

english, 2007

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Bauché, Stéphanie, O’Regan, Seana, Azuma, Yoshiteru, Laffargue, Fanny, McMacken, Grace, Sternberg, Damien, Brochier, Guy, Buon, Céline, Bouzidi, Nassima, Topf, Ana, Lacène, Emmanuelle, Remerand, Ganae

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2016

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

Bauché, Stéphanie, Vellieux, Geoffroy, Sternberg, Damien, Fontenille, Marie-Joséphine, De Bruyckere, Elodie, Davoine, Claire-Sophie, Brochier, Guy, Messéant, Julien, Wolf, Lucie, Fardeau, Michel, Lacè

Journal:

Journal of Neurology

Année:

2017

Fichier:

PDF, 4.78 MB

2017

Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations

Ronstedt, Katharina, Sternberg, Damien, Detro-Dassen, Silvia, Gramkow, Thomas, Begemann, Birgit, Becher, Toni, Kilian, Petra, Grieschat, Matthias, Machtens, Jan-Philipp, Schmalzing, Günther, Fischer,

Journal:

Scientific Reports

Année:

2015

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2015

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

Schwartz, Mathias, Sternberg, Damien, Whalen, Sandra, Afenjar, Alexandra, Isapof, Arnaud, Chabrol, Brigitte, Portnoï, Marie-France, Heide, Solveig, Keren, Boris, Chantot-Bastaraud, Sandra, Siffroi, Je

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2017

Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses

Poulin, Hugo, Gosselin-Badaroudine, Pascal, Vicart, Savine, Habbout, Karima, Sternberg, Damien, Giuliano, Serena, Fontaine, Bertrand, Bendahhou, Saïd, Nicole, Sophie, Chahine, Mohamed

Journal:

Scientific Reports

Année:

2018

Langue:

english

Fichier:

PDF, 4.54 MB

english, 2018

Syndromes myasthéniques congénitaux par mutation du gène ColQ : 2 familles, 2 mutations, 2 phénotypes

Kediha, Mohamed Islam, Alipacha, Lamia, Sternberg, Damien, Nouioua, Sonia, Eymard, Bruno, Tazir, Meriem

Journal:

Revue Neurologique

Année:

2018

Langue:

french

Fichier:

PDF, 170 KB

french, 2018

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

Loussouarn, Gildas, Sternberg, Damien, Nicole, Sophie, Marionneau, Céline, Le Bouffant, Francoise, Toumaniantz, Gilles, Barc, Julien, Malak, Olfat A., Fressart, Véronique, Péréon, Yann, Baró, Isabelle

Journal:

Frontiers in Pharmacology

Année:

2016

Langue:

english

Fichier:

PDF, 2.30 MB

english, 2016

Prolonged attacks of weakness with hypokalemia in SCN4A -related paramyotonia congenita

van Osch, Tim, Stunnenberg, Bas C, Sternberg, Damien, Kerklaan, Bertjan J

Journal: