Search Results - "Boespflug Tanguy, Odile"

Developmental coordination disorder subtypes in children: An unsupervised clustering by Gras, Domitille, Ploix Maes, Emmanuelle, Doulazmi, Mohamed, Huron, Caroline, Galléa, Cécile, Boespflug Tanguy, Odile, Germanaud, David, Roze, Emmanuel

“…Aim To identify subtypes of developmental coordination disorder (DCD) in children. Method Children with DCD diagnosed through comprehensive evaluation at…”
Get full text

Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing by Fraize, Justine, Fischer, Clara, Elmaleh‐Bergès, Monique, Kerdreux, Eliot, Beggiato, Anita, Ntorkou, Alexandra, Duchesnay, Edouard, Bekha, Dhaif, Boespflug‐Tanguy, Odile, Delorme, Richard, Hertz‐Pannier, Lucie, Germanaud, David

“…In fetal alcohol spectrum disorders (FASD), brain growth deficiency is a hallmark of subjects both with fetal alcohol syndrome (FAS) and with non‐syndromic…”
Get full text

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function by Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, Billette de Villemeur, Thierry, Bley, Annette E., Blumkin, Lubov, Boespflug‐Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François‐Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Drake af Hagelsrum, Gunilla, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie‐Christine, Oppermann, Ilena, Pérez‐Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Van Haren, Keith, Tomas Vila, Miguel, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.

“…IFIH1 gain‐of‐function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including…”
Get full text

Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study by De Giorgis, Valentina, Bhatia, Kailash P., Boespflug‐Tanguy, Odile, Gras, Domitille, Marina, Adela Della, Desurkar, Archana, Toledo, Manuel, Miller, Ian, Rotstein, Michael, Schneider, Susanne A., Tarquinio, Daniel C., Weber, Yvonne, Brandabur, Melanie, Mayhew, Jill, Koutsoukos, Tony, De Vivo, Darryl C.

“…Background Paroxysmal movement disorders are common in Glut1 deficiency syndrome (Glut1DS). Not all patients respond to or tolerate ketogenic diets. Objectives…”
Get full text

Evaluation of CSF1R‐related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria by Ayrignac, Xavier, Carra‐Dallière, Clarisse, Codjia, Pekes, Mouzat, Kevin, Castelnovo, Giovanni, Ellie, Emmanuel, Etcharry‐Bouyx, Frédérique, Belliard, Serge, Marelli, Cecilia, Portet, Florence, Le Ber, Isabelle, Durand‐Dubief, Francoise, Mathey, Guillaume, Stankoff, Bruno, Dorboz, Imen, Drunat, Severine, Boespflug‐Tanguy, Odile, Menjot de Champfleur, Nicolas, Lumbroso, Serge, Mochel, Fanny, Labauge, Pierre

“…Background and purpose Diagnostic criteria for adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to colony‐stimulating factor…”
Get full text

Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome by Gerasimenko, Anna, Mignot, Cyril, Naggara, Olivier, Coulet, Florence, Ekram, Samar, Heide, Solveig, Sorato, Clarisse, Mazowiecki, Maxime, Perrin, Laurence, Colas, Chrystelle, Cusin, Veronica, Caux, Frédéric, Dardenne, Antoine, El Chehadeh, Salima, Verloes, Alain, Maurey, Hélène, Afenjar, Alexandra, Petit, Florence, Barete, Stéphane, Boespflug‐Tanguy, Odile, Bourrat, Emmanuelle, Capri, Yline, Ciorna, Viorica, Deb, Wallid, Doummar, Diane, Perrier, Alexandre, Guédon, Alexis, Houdart, Emmanuel, Isidor, Bertrand, Jacquemont, Marie‐Line, Buffet, Camille, Mercier, Sandra, Passemard, Sandrine, Riquet, Audrey, Ruaud, Lyse, Schaefer, Elise, Heron, Delphine, Bisdorff, Annouk, Benusiglio, Patrick R.

“…Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN‐related hamartoma tumor syndrome (PHTS). However, PHTS‐associated…”
Get full text

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome by Gras, Domitille, Cousin, Christelle, Kappeler, Caroline, Fung, Cheuk‐Wing, Auvin, Stéphane, Essid, Nouha, Chung, Brian Hy, Da Costa, Lydie, Hainque, Elodie, Luton, Marie‐Pierre, Petit, Vincent, Vuillaumier‐Barrot, Sandrine, Boespflug‐Tanguy, Odile, Roze, Emmanuel, Mochel, Fanny

“…Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1‐DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control…”
Get full text

SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation by Dewulf, Joseph P., Wiame, Elsa, Dorboz, Imen, Elmaleh‐Bergès, Monique, Imbard, Apolline, Dumitriu, Dana, Rak, Malgorzata, Bourillon, Agnès, Helaers, Raphaël, Malla, Alisha, Renaldo, Florence, Boespflug‐Tanguy, Odile, Vincent, Marie‐Françoise, Benoist, Jean‐François, Wevers, Ron A., Schlessinger, Avner, Van Schaftingen, Emile, Nassogne, Marie‐Cécile, Schiff, Manuel

“…Objective SLC13A3 encodes the plasma membrane Na+/dicarboxylate cotransporter 3, which imports inside the cell 4 to 6 carbon dicarboxylates as well as…”
Get full text

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene by Malbos, Marlène, Wakeling, Emma, Gautier, Thierry, Boespflug-Tanguy, Odile, Busby, Louise, Taylor-Miller, Tashunka, Dudoignon, Benjamin, Bokov, Plamen, Govin, Jérôme, Grisval, Margot, Rega, Adélaïde, Mourot De Rougemont, Marie-Gabrielle, Aubriot-Lorton, Marie-Hélène, Darmency, Véronique, Bensignor, Candace, Houzel, Anne, Huet, Frédéric, Denommé-Pichon, Anne-Sophie, Delanne, Julian, Tran Mau-Them, Frédéric, Bruel, Ange-Line, Safraou, Hana, Nambot, Sophie, Garde, Aurore, Philippe, Christophe, Duffourd, Yannis, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel

“…Achaete-Scute Family basic-helix-loop-helix (bHLH) Transcription Factor 1 (ASCL1) is a proneural transcription factor involved in neuron development in the…”
Get full text

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease by Ruiz, Montserrat, Bégou, Mélina, Launay, Nathalie, Ranea‐Robles, Pablo, Bianchi, Patrizia, López‐Erauskin, Jone, Morató, Laia, Guilera, Cristina, Petit, Bérengère, Vaurs‐Barriere, Catherine, Guéret‐Gonthier, Céline, Bonnet‐Dupeyron, Marie‐Noëlle, Fourcade, Stéphane, Auwerx, Johan, Boespflug‐Tanguy, Odile, Pujol, Aurora

“…Pelizaeus‐Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by early impairment of motor development, nystagmus, choreoathetotic…”
Get full text

Novel variants causing megalencephalic leukodystrophy in Sudanese families by Amin, Mutaz, Vignal, Cedric, Hamed, Ahlam A A, Mohammed, Inaam N, Elseed, Maha A, Drunat, Severine, Babai, Arwa, Eltaraifee, Esraa, Elbadi, Iman, Abubaker, Rayan, Mustafa, Doaa, Yahia, Ashraf, Koko, Mahmoud, Osman, Melka, Bakhit, Yousuf, Elshafea, Azza, Alsiddig, Mohamed, Haroun, Sahwah, Lelay, Gurvan, Elsayed, Liena E O, Ahmed, Ammar E, Boespflug-Tanguy, Odile, Dorboz, Imen

“…Mutations in MLC1 cause megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rare form of leukodystrophy characterized by macrocephaly,…”
Get full text

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families by Kraoua, Ichraf, Jamoussi, Maha, Drissi, Cyrine, Kraoua, Lilia, Drunat, Séverine, Benrhouma, Hanene, Ben Younes, Thouraya, Nagi, Sonia, Abdelhak, Sonia, Boespflug Tanguy, Odile, Youssef‐Turki, Ilhem Ben, Trabelsi, Mediha, Dorboz, Imen

“…ABSTRACT Background POLIII‐related leukodystrophies are a group of recently recognized hereditary white matter diseases with a similar clinical and…”
Get full text

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects by Vaurs-Barrière, Catherine, Deville, Marlène, Sarret, Catherine, Giraud, Geneviève, Des Portes, Vincent, Prats-Viñas, José-Maria, De Michele, Giuseppe, Dan, Bernard, Brady, Angela F., Boespflug-Tanguy, Odile, Touraine, Renaud

“…Pelizaeus–Merzbacher Disease is an X‐linked hypomyelinatiing leukodystrophy. We report mutations in the thyroid hormone transporter gene MCT8 in 11% of 53…”
Get full text

Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation by Capri, Yline, Friesema, Edith C.H., Kersseboom, Simone, Touraine, Renaud, Monnier, Aurélie, Eymard-Pierre, Eléonore, Des Portes, Vincent, De Michele, Giusseppe, Brady, Angela F., Boespflug-Tanguy, Odile, Visser, Theo J., Vaurs-Barriere, Catherine

“…ABSTRACT SLC 16A2, the gene for the second member of the solute carrier family 16 (monocarboxylic acid transporter), located on chromosome Xq13.2, encodes a…”
Get full text

Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia by Kraoua, Ichraf, Karkar, Adnane, Drissi, Cyrine, Benrhouma, Hanene, Klaa, Hedia, Samaan, Simon, Renaldo, Florence, Elmaleh, Monique, Ben Hamouda, Mohamed, Abdelhak, Sonia, Boespflug‐Tanguy, Odile, Ben Youssef‐Turki, Ilfghem, Dorboz, Imen

“…Introduction RNA polymerase III (Pol III)‐related leukodystrophies are a group of autosomal recessive neurodegenerative disorders caused by mutations in POLR3A…”
Get full text

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series by Lerat, Justine, Magdelaine, Corinne, Roux, Anne‐Françoise, Darnaud, Léa, Beauvais‐Dzugan, Hélène, Naud, Steven, Richard, Laurence, Derouault, Paco, Ghorab, Karima, Magy, Laurent, Vallat, Jean‐Michel, Cintas, Pascal, Bieth, Eric, Arne‐Bes, Marie‐Christine, Goizet, Cyril, Espil‐Taris, Caroline, Journel, Hubert, Toutain, Annick, Urtizberea, Jon Andoni, Boespflug‐Tanguy, Odile, Laffargue, Fanny, Corcia, Philippe, Pasquier, Laurent, Fradin, Mélanie, Napuri, Sylva, Ciron, Jonathan, Boulesteix, Jean‐Marc, Sturtz, Franck, Lia, Anne‐Sophie

“…Background The most common inherited peripheral neuropathy is Charcot‐Marie‐Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated…”
Get full text

Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease by Combes, Patricia, Kammoun, Nadège, Monnier, Aurélie, Gonthier-Guéret, Céline, Giraud, Geneviève, Bertini, Enrico, Chahnez, Triki, Fakhfakh, Faiza, Boespflug-Tanguy, Odile, Vaurs-Barrière, Catherine

Get full text

Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment by Mercuri, Eugenio, Baranello, Giovanni, Boespflug‐Tanguy, Odile, De Waele, Liesbeth, Goemans, Nathalie, Kirschner, Janbernd, Masson, Riccardo, Mazzone, Elena S., Pechmann, Astrid, Pera, Maria Carmela, Vuillerot, Carole, Bader‐Weder, Silvia, Gerber, Marianne, Gorni, Ksenija, Hoffart, Janine, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Yeung, Wai Yin, Servais, Laurent

“…Background and purpose Spinal muscular atrophy (SMA) is caused by reduced levels of survival of motor neuron (SMN) protein due to deletions and/or mutations in…”
Get full text

Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis by Eymard-Pierre, Eleonore, Yamanaka, Koji, Haeussler, Martin, Kress, Wolfram, Gauthier-Barichard, Fernande, Combes, Patricia, Cleveland, Don W., Boespflug-Tanguy, Odile

“…Objective Recessive mutations in ALS2 (juvenile amyotrophic lateral sclerosis) are causative for early‐onset upper motor neuron diseases, including infantile…”
Get full text

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus by Fogli, Anne, Wong, Kondi, Eymard-Pierre, Eleonore, Wenger, Jack, Bouffard, John-Paul, Goldin, Ehud, Black, Deborah N., Boespflug-Tanguy, Odile, Schiffmann, Raphael

“…Cree leukoencephalopathy is a rapidly fatal infantile autosomal recessive leukodystrophy of unknown cause observed in the native North American Cree and…”
Get full text