Search Results - "Feraudy, Yvan"

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy by Feraudy, Yvan, Ben Yaou, Rabah, Wahbi, Karim, Stalens, Caroline, Stantzou, Amalia, Laugel, Vincent, Desguerre, Isabelle, Servais, Laurent, Leturcq, France, Amthor, Helge

“…Objective This study was undertaken to determine whether a low residual quantity of dystrophin protein is associated with delayed clinical milestones in…”
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miR-141 and miR-200a act on ovarian tumorigenesis by controlling oxidative stress response by Mateescu, Bogdan, Batista, Luciana, Cardon, Melissa, Gruosso, Tina, de Feraudy, Yvan, Mariani, Odette, Nicolas, André, Meyniel, Jean-Philippe, Cottu, Paul, Sastre-Garau, Xavier, Mechta-Grigoriou, Fatima

“…This report identifies a new contribution of members of the miR-200 family to tumorigenesis. miR-200a and miR-141 specifically regulate p38α, contributing to…”
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The Rogdi knockout mouse is a model for Kohlschütter–Tönz syndrome by Jimenez-Armijo, Alexandra, Morkmued, Supawich, Ahumada, José Tomás, Kharouf, Naji, de Feraudy, Yvan, Gogl, Gergo, Riet, Fabrice, Niederreither, Karen, Laporte, Jocelyn, Birling, Marie Christine, Selloum, Mohammed, Herault, Yann, Hernandez, Magali, Bloch-Zupan, Agnès

“…Kohlschütter–Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and…”
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Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations by de Feraudy, Yvan, Vandroux, Marie, Romero, Norma Beatriz, Schneider, Raphaël, Saker, Safaa, Boland, Anne, Deleuze, Jean-François, Biancalana, Valérie, Böhm, Johann, Laporte, Jocelyn

“…Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a…”
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies by Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John, Monges, Soledad, Biancalana, Valérie, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud, Amthor, Helge, Servais, Laurent, de Feraudy, Yvan, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Bello, Ana Buj, Laing, Nigel, Evangelista, Teresinha, Laporte, Jocelyn, Böhm, Johann, Romero, Norma B

“…Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe…”
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Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study by Baer, Sarah, Schalk, Audrey, Miguet, Marguerite, Schaefer, Élise, El Chehadeh, Salima, Ginglinger, Emmanuelle, de Saint Martin, Anne, Abi Wardé, Marie-Thérèse, Laugel, Vincent, de Feraudy, Yvan, Gauer, Lucas, Hirsch, Edouard, Boulay, Clotilde, Bansept, Claire, Bolocan, Anamaria, Kitadinis, Ismini, Gouronc, Aurélie, Gérard, Bénédicte, Piton, Amélie, Scheidecker, Sophie

“…Genetic epilepsy diagnosis is increasing due to technological advancements. Although the use of molecular diagnosis is increasing, chromosomal microarray…”
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Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management by Wicker, Camille, Roux, Charles-Joris, Goujon, Louise, de Feraudy, Yvan, Hully, Marie, Brassier, Anais, Bérat, Claire-Marine, Chemaly, Nicole, Wiedemann, Arnaud, Damaj, Lena, Abi-Warde, Marie-Thérèse, Dobbelaere, Dries, Roubertie, Agathe, Cano, Aline, Arion, Alina, Kaminska, Anna, Da Costa, Sabrina, Bruneel, Arnaud, Vuillaumier-Barrot, Sandrine, Boddaert, Nathalie, Pascreau, Tiffany, Borgel, Delphine, Kossorotoff, Manoelle, Harroche, Annie, de Lonlay, P.

“…Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors…”
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Intérêts et limites de l’électroneuromyographie chez les enfants : étude de 137 cas by de Feraudy, Yvan, Nadaj-Pakleza, Aleksandra, Vincent, Laugel, Chanson, Jean-Baptiste

“…L’électroneuromyogramme (ENMG) est utilisée pour le diagnostic des pathologies neuromusculaires de l’enfant. Il peut cependant être mal toléré et ne retrouve…”
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies by Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John, Monges, Soledad, Biancalana, Valérie, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud, Amthor, Helge, Servais, Laurent, de Feraudy, Yvan, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Buj-Bello, Ana, Laing, Nigel, Evangelista, Teresinha, Laporte, Jocelyn, Böhm, Johann, Romero, Norma

“…Abstract Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges…”
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Factors Associated With Severe SARS-CoV-2 Infection by Ouldali, Naïm, Yang, David Dawei, Madhi, Fouad, Levy, Michael, Gaschignard, Jean, Craiu, Irina, Guiddir, Tamazoust, Schweitzer, Cyril, Wiedemann, Arnaud, Lorrot, Mathie, Romain, Anne-Sophie, Garraffo, Aurélie, Haas, Hervé, Rouget, Sébastien, de Pontual, Loïc, Aupiais, Camille, Martinot, Alain, Toubiana, Julie, Dupic, Laurent, Minodier, Philippe, Passard, Manon, Belot, Alexandre, Levy, Corinne, Béchet, Stephane, Jung, Camille, Sarakbi, Mayssa, Ducrocq, Sarah, Danekova, Nevena, Jhaouat, Imen, Vignaud, Olivier, Garrec, Nathalie, Caron, Elisabeth, Cohen, Robert, Gajdos, Vincent, Angoulvant, François

“…Initial reports on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections in children suggested that very young age and comorbidities may…”
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