Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis?

por Benjumea-Cuartas, Vanessa, Eisermann, Monika, Simonnet, Hina, Hully, Marie, Nabbout, Rima, Desguerre, Isabelle, Kaminska, Anna
Publicado 2017

Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?

por Desguerre, Isabelle, Aubart, Melodie, Hashimoto, Yosuke, Poirier, Karine, Kaminska, Anna, Alison, Marianne, Boddaert, Nathalie, Munnich, Arnold, Campbell, Matthew
Publicado 2023

Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals

por Massenet, Jimmy, Gitiaux, Cyril, Magnan, Mélanie, Cuvellier, Sylvain, Hubas, Arnaud, Nusbaum, Patrick, Dilworth, F Jeffrey, Desguerre, Isabelle, Chazaud, Bénédicte
Publicado 2020

Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy

por Kichula, Elizabeth A., Proud, Crystal M., Farrar, Michelle A., Kwon, Jennifer M., Saito, Kayoko, Desguerre, Isabelle, McMillan, Hugh J.
Publicado 2021

Recurrent de novo mutations in CLDN5 induce an anion-selective blood–brain barrier and alternating hemiplegia

por Hashimoto, Yosuke, Poirier, Karine, Boddaert, Nathalie, Hubert, Laurence, Aubart, Melodie, Kaminska, Anna, Alison, Marianne, Desguerre, Isabelle, Munnich, Arnold, Campbell, Matthew
Publicado 2022

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

por Hully, Marie, Lo Barco, Tommaso, Kaminska, Anna, Barcia, Giulia, Cances, Claude, Mignot, Cyril, Desguerre, Isabelle, Garcelon, Nicolas, Kabashi, Edor, Nabbout, Rima
Publicado 2021

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

por Dabaj, Ivana, Carlier, Robert Y., Dieterich, Klaus, Desguerre, Isabelle, Faure, Julien, Romero, Norma B., Trang, Wenting, Quijano-Roy, Susana, Germain, Dominique P.
Publicado 2023

Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience

por Dabaj, Ivana, Gitiaux, Cyril, Avila-Smirnow, Daniela, Ropers, Jacques, Desguerre, Isabelle, Salon, Arielle, Pannier, Stéphanie, Tebani, Abdellah, Valayannopoulos, Vassili, Quijano-Roy, Susana
Publicado 2019

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy

por de Feraudy, Yvan, Ben Yaou, Rabah, Wahbi, Karim, Stalens, Caroline, Stantzou, Amalia, Laugel, Vincent, Desguerre, Isabelle, Servais, Laurent, Leturcq, France, Amthor, Helge
Publicado 2020

Clinical Heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of Sub-Phenotypes and Predictive Criteria by Long-Term Follow-Up

por Desguerre, Isabelle, Christov, Christo, Mayer, Michele, Zeller, Reinhard, Becane, Henri-Marc, Bastuji-Garin, Sylvie, Leturcq, France, Chiron, Catherine, Chelly, Jamel, Gherardi, Romain K.
Publicado 2009

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype

por Ouss, Lisa, Leunen, Dorothee, Laschet, Jacques, Chemaly, Nicole, Barcia, Giulia, Losito, Emma M., Aouidad, Aveline, Barrault, Zoe, Desguerre, Isabelle, Breuillard, Delphine, Nabbout, Rima
Publicado 2018

Severe paediatric conditions linked with EV-A71 and EV-D68, France, May to October 2016

por Antona, Denise, Kossorotoff, Manoëlle, Schuffenecker, Isabelle, Mirand, Audrey, Leruez-Ville, Marianne, Bassi, Clément, Aubart, Mélodie, Moulin, Florence, Lévy-Bruhl, Daniel, Henquell, Cécile, Lina, Bruno, Desguerre, Isabelle
Publicado 2016

The Use and Outcomes of Motor Rehabilitation Services Among People With Cerebral Palsy Change Across the Lifespan

por Cornec, Gwenaël, Brochard, Sylvain, Drewnowski, Gaelle, Desguerre, Isabelle, Toullet, Philippe, Fontaine, Audrey, Le Lay, Yann, Boivin, Julia, Bérard, Eric, Bodoria, Maria, Gautheron, Vincent, De la Cruz, Javier
Publicado 2022

Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy

por Guillou, Julia, de Pellegars, Alice, Porcheret, Florence, Frémeaux-Bacchi, Véronique, Allain-Launay, Emma, Debord, Camille, Denis, Manon, Péréon, Yann, Barnérias, Christine, Desguerre, Isabelle, Roussey, Gwenaëlle, Mercier, Sandra
Publicado 2022

Behavior and interaction imaging at 9 months of age predict autism/intellectual disability in high-risk infants with West syndrome

por Ouss, Lisa, Palestra, Giuseppe, Saint-Georges, Catherine, Leitgel Gille, Marluce, Afshar, Mohamed, Pellerin, Hugues, Bailly, Kevin, Chetouani, Mohamed, Robel, Laurence, Golse, Bernard, Nabbout, Rima, Desguerre, Isabelle, Guergova-Kuras, Mariana, Cohen, David
Publicado 2020

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

por Nicolle, Romain, Altin, Nami, Siquier-Pernet, Karine, Salignac, Sherlina, Blanc, Pierre, Munnich, Arnold, Bole-Feysot, Christine, Malan, Valérie, Caron, Barthélémy, Nitschké, Patrick, Desguerre, Isabelle, Boddaert, Nathalie, Rio, Marlène, Rausell, Antonio, Cantagrel, Vincent
Publicado 2023

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

por Nizon, Mathilde, Ottolenghi, Chris, Valayannopoulos, Vassili, Arnoux, Jean-Baptiste, Barbier, Valérie, Habarou, Florence, Desguerre, Isabelle, Boddaert, Nathalie, Bonnefont, Jean-Paul, Acquaviva, Cécile, Benoist, Jean-François, Rabier, Daniel, Touati, Guy, de Lonlay, Pascale
Publicado 2013

Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification

por Proud, Crystal M., Mercuri, Eugenio, Finkel, Richard S., Kirschner, Janbernd, De Vivo, Darryl C., Muntoni, Francesco, Saito, Kayoko, Tizzano, Eduardo F., Desguerre, Isabelle, Quijano‐Roy, Susana, Benguerba, Kamal, Raju, Dheeraj, Faulkner, Eric, Servais, Laurent
Publicado 2023

Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1

por Boursange, Sophie, Araneda, Marco, Stalens, Caroline, Desguerre, Isabelle, Barnerias, Christine, Nougues, Marie-Christine, Isapof, Arnaud, Quijano-Roy, Susana, Blu Genestine, Nadia, Ouillade, Laetitia, Martinez Jalilie, Maripaz, Castiglioni, Claudia, Boespflug-Tanguy, Odile, Gargiulo, Marcela
Publicado 2022

MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

por Boddaert, Nathalie, Zilbovicius, Mônica, Philipe, Anne, Robel, Laurence, Bourgeois, Marie, Barthélemy, Catherine, Seidenwurm, David, Meresse, Isabelle, Laurier, Laurence, Desguerre, Isabelle, Bahi-Buisson, Nadia, Brunelle, Francis, Munnich, Arnold, Samson, Yves, Mouren, Marie-Christine, Chabane, Nadia
Publicado 2009