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Acid Ceramidase Deficiency Cuinat, Silvestre; Rollier, Paul; Grand, Katheryn; Sanchez-Lara, Pedro A.; Allen-Sharpley, Michelle; Levade, Thierry; Vanier, Marie T.; Lion Francois, Laurence; Chemaly, Nicole; de Lattre, Capucine; Moreau, Camille; Paquot, Adrien; Beghyn, Terence; de Masfrand, Servane; Bezieau, Stephane; Mercier, Sandra; Boespflug-Tanguy, Odile Share Save
A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects Lebon, Sophie; Bruneel, Arnaud; Drunat, Severine; Albert, Alexandra; Csaba, Zsolt; Elmaleh, Monique; Ntorkou, Alexandra; Tenier, Yann; Fenaille, Francois; Gressens, Pierre; Passemard, Sandrine; Boespflug-Tanguy, Odile; Dorboz, Imen; El Ghouzzi, Vincent Share Save
Neuroglobin overexpression in cerebellar neurons of Harlequin mice improves mitochondrial homeostasis and reduces ataxic behavior Cwerman-Thibault, Helene; Malko-Baverel, Vassilissa; Le Guilloux, Gwendoline; Ratcliffe, Edward; Mouri, Djmila; Torres-Cuevas, Isabel; Millan, Ivan; Saubamea, Bruno; Mignon, Virginie; Boespflug-Tanguy, Odile; Gressens, Pierre; Corral-Debrinski, Marisol Share Save
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 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. Share Save
Sunfish parts 1 and 2: 4-year efficacy and safety data of risdiplam in types 2 and 3 spinal muscular atrophy (SMA) Oskoui, Maryam; Deconinck, Nicolas; Mazzone, Elena S.; Nascimento, Andres; Day, John W.; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschnero, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Braid, Jessica; Gerber, Marianne; Gorni, Ksenija; Martin, Carmen; Yeung, Wai Yin; Scalco, Renata S.; Mercuri, Eugenio Share Save
Questioning cognitive heterogeneity and intellectual functioning in fetal alcohol spectrum disorders from the Wechsler intelligence scale for children Kerdreux, Eliot; Fraize, Justine; Garzon, Pauline; Chalain, Esther; Etchebarren, Lea; Sitbon, Delphine; Maruani, Anna; Boespflug-Tanguy, Odile; Hertz-Pannier, Lucie; Noulhiane, Marion; Pinabiaux, Charlotte; Germanaud, David Share Save
Titin copy number variations associated with dominant inherited phenotypes Perrin, Aurelien; Metay, Corinne; Savarese, Marco; Ben Yaou, Rabah; Demidov, German; Nelson, Isabelle; Sole, Guilhem; Pereon, Yann; Bertini, Enrico Silvio; Fattori, Fabiana; D'Amico, Adele; Ricci, Federica; Ginsberg, Mira; Seferian, Andreea; Boespflug-Tanguy, Odile; Servais, Laurent; Chapon, Francoise; Lagrange, Emmeline; Gaudon, Karen; Bloch, Adrien; Ghanem, Robin; Guyant-Marechal, Lucie; Johari, Mridul; Van Goethem, Charles; Fardeau, Michel; Morales, Raul Juntas; Genetti, Casie A.; Marttila, Minttu; Koenig, Michel; Beggs, Alan; Udd, Bjarne; Bonne, Gisele; Cossee, Mireille Share Save
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Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease-A population-based study Sevin, Caroline; Hatteb, Samira; Clement, Aurore; Bignami, Fabrizia; Chillotti, Louis; Bugnard, Francoise; Benard, Steve; Boespflug-Tanguy, Odile Share Save
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia Launay, Nathalie; Ruiz, Montserrat; Planas-Serra, Laura; Verdura, Edgard; Rodriguez-Palmero, Agusti; Schluter, Agatha; Goicoechea, Leire; Guilera, Cristina; Casas, Josefina; Campelo, Felix; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Boespflug-Tanguy, Odile; Cancela, Maria Vazquez; Gutierrez-Solana, Luis Gonzalez; Casasnovas, Carlos; Area-Gomez, Estela; Pujol, Aurora Share Save
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome Mochel, Fanny; Gras, Domitille; Luton, Marie-Pierre; Nizou, Manon; Giovannini, Donatella; Delattre, Caroline; Aubart, Melodie; Barth, Magalie; De Saint-Martin, Anne; Doummar, Diane; Essid, Nouha; Garros, Alexa; Le Camus, Caroline Hachon; Hoebeke, Celia; Tich, Sylvie Nguyen The; Perivier, Maximilien; Rivera, Serge; Rolland, Anne; Roubertie, Agathe; Sarret, Catherine; Sevin, Caroline; Ville, Dorothee; Sitbon, Marc; Costa, Jean-Marc; Pons, Roser; Garcia-Cazorla, Angels; Vuillaumier, Sandrine; Petit, Vincent C.; Boespflug-Tanguy, Odile; De Vivo, Darryl Share Save
Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing Fraize, Justine; Fischer, Clara; Elmaleh-Berges, Monique; Kerdreux, Eliot; Beggiato, Anita; Ntorkou, Alexandra; Duchesnay, Edouard; Bekha, Dhaif; Boespflug-Tanguy, Odile; Delorme, Richard; Hertz-Pannier, Lucie; Germanaud, David Share Save
FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA) Darras, Basil; Baranello, Giovanni; Boespflug-Tanguy, Odile; Day, John; Deconinck, Nicholas; Klein, Andrea; Masson, Ricardo; Mazurkiewicz-Beldzinska, Maria; Mercuri, Eugenio; Rose, Kristy; Vlodavets, Dmitry; Xiong, Hui; Zanoteli, Edmar; El-Khairi, Muna; Gerber, Marianne; Gorni, Ksenija; Kletzl, Heidemarie; Palfreeman, Laura; Dodman, Angela; Servais, Laurent Share Save
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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huet anomaly Thomas, Quentin; Motta, Marialetizia; Gautier, Thierry; Zaki, Maha S.; Ciolfi, Andrea; Paccaud, Julien; Girodon, Francois; Boespflug-Tanguy, Odile; Besnard, Thomas; Kerkhof, Jennifer; McConkey, Haley; Masson, Aymeric; Denomme-Pichon, Anne-Sophie; Cogne, Benjamin; Trochu, Eva; Vignard, Virginie; El It, Fatima; Rodan, Lance H.; Alkhateeb, Mohammad Ayman; Abou Jamra, Rami; Duplomb, Laurence; Tisserant, Emilie; Duffourd, Yannis; Bruel, Ange-Line; Jackson, Adam; Banka, Siddharth; McEntagart, Meriel; Saggar, Anand; Gleeson, Joseph G.; Sievert, David; Bae, Hyunwoo; Lee, Beom Hee; Kwon, Kisang; Seo, Go Hun; Lee, Hane; Saeed, Anjum; Anjum, Nadeem; Cheema, Huma; Alawbathani, Salem; Khan, Imran; Pinto-Basto, Jorge; Teoh, Joyce; Wong, Jasmine; Sahari, Umar Bin Mohamad; Houlden, Henry; Zhelcheska, Kristina; Pannetier, Melanie; Awad, Mona A.; Lesieur-Sebellin, Marion; Barcia, Giulia; Amiel, Jeanne; Delanne, Julian; Philippe, Christophe; Faivre, Laurence; Odent, Sylvie; Bertoli-Avella, Aida; Thauvin, Christel; Sadikovic, Bekim; Reversade, Bruno; Maroofian, Reza; Govin, Jerome; Tartaglia, Marco; Vitobello, Antonio Share Save
Combining neuroanatomical features to support diagnosis of fetal alcohol spectrum disorders Fraize, Justine; Garzon, Pauline; Ntorkou, Alexandra; Kerdreux, Eliot; Boespflug-Tanguy, Odile; Beggiato, Anita; Delorme, Richard; Hertz-Pannier, Lucie; Elmaleh-Berges, Monique; Germanaud, David Share Save
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