Search Results - "Hézode, Marianne"

Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study by Vicart, Savine, Franques, Jérôme, Bouhour, Françoise, Magot, Armelle, Péréon, Yann, Sacconi, Sabrina, Nadaj-Pakleza, Aleksandra, Behin, Anthony, Zahr, Noël, Hézode, Marianne, Fournier, Emmanuel, Payan, Christine, Lacomblez, Lucette, Fontaine, Bertrand

“…•Myomex is a randomised, double-blind, placebo-controlled, cross-over study.•It assessed the efficacy and safety of mexiletine in nondystrophic…”
Get full text

The role of electrodiagnosis with long exercise test in mcardle disease by Semplicini, Claudio, Hézode‐arzel, Marianne, Laforêt, Pascal, Béhin, Anthony, Leonard‐Louis, Sarah, Hogrel, Jean‐Yves, Petit, François, Eymard, Bruno, Stojkovic, Tanya, Fournier, Emmanuel

“…ABSTRACT Introduction: In this study we evaluated the role of an electrodiagnostic provocative test (long exercise test) in McArdle disease. Methods:…”
Get full text

Cold extends electromyography distinction between ion channel mutations causing myotonia by Fournier, Emmanuel, Viala, Karine, Gervais, Hélène, Sternberg, Damien, Arzel-Hézode, Marianne, Laforêt, Pascal, Eymard, Bruno, Tabti, Nacira, Willer, Jean-Claude, Vial, Christophe, Fontaine, Bertrand

“…Objective Myotonias are inherited disorders of the skeletal muscle excitability. Nondystrophic forms are caused by mutations in genes coding for the muscle…”
Get full text

Homozygosity for dominant mutations increases severity of muscle channelopathies by Arzel-hézode, Marianne, Sternberg, Damien, Tabti, Nacira, Vicart, Savine, Goizet, Cyril, Eymard, Bruno, Fontaine, Bertrand, Fournier, Emmanuel

“…Muscle channelopathies caused by mutations in the SCN4A gene that encodes the muscle sodium channel are transmitted by autosomal‐dominant inheritance. We…”
Get full text

Glucocorticoids may trigger attacks in several types of periodic paralysis by Arzel-Hézode, Marianne, McGoey, Suzanne, Sternberg, Damien, Vicart, Savine, Eymard, Bruno, Fontaine, Bertrand

“…Abstract Hypokalemic periodic paralysis is a rare disorder characterized by episodic attacks of muscle flaccidity associated with low serum potassium levels…”
Get full text

Cold extends electromyography distinction between ion channel mutations causing myotonia by Fournier, Emmanuel, Viala, Karine, Gervais, Hélène, Sternberg, Damien, Arzel-Hézode, Marianne, Laforêt, Pascal, Eymard, Bruno, Tabti, Nacira, Willer, Jean-Claude, Vial, Christophe, Fontaine, Bertrand

“…OBJECTIVE: Myotonias are inherited disorders of the skeletal muscle excitability. Nondystrophic forms are caused by mutations in genes coding for the muscle…”
Get full text

Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome by Villar‐Quiles, Rocio Nur, Sternberg, Damien, Tredez, Grégoire, Beatriz Romero, Norma, Evangelista, Teresinha, Lafôret, Pascal, Cintas, Pascal, Sole, Guilhem, Sacconi, Sabrina, Bendahhou, Said, Franques, Jérôme, Cances, Claude, Noury, JB, Delmont, Emilien, Blondy, Patricia, Perrin, Laurence, Hezode, Marianne, Fournier, Emmanuel, Fontaine, Bertrand, Stojkovic, Tanya, Vicart, Savine

“…Background and purpose Andersen–Tawil syndrome (ATS) is a skeletal muscle channelopathy caused by KCNJ2 mutations, characterized by a clinical triad of…”
Get full text

Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes by Stojkovic, Tanya, Masingue, Marion, Turmel, Helène, Hezode-Arzel, Marianne, Béhin, Anthony, Leonard-Louis, Sarah, Bassez, Guillaume, Bauché, Stéphanie, Blondy, Patricia, Richard, Pascale, Sternberg, Damien, Eymard, Bruno, Fournier, Emmanuel, Villar-Quiles, Rocío Nur

“…•Interpretation of novel or unknown significance variants in CMS-related genes is challenging.•We propose a simple, painless ENMG protocol based on…”
Get full text