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The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group Tchan, Michel; Lehman, Anna; van Dussen, Laura; Langendonk, Janneke G.; Janssen, Mirian C. H.; Langeveld, Mirjam; Murphy, Elaine; Ryder, Bryony; Glamuzina, Emma; Merkel, Martin; Sechi, Annalisa; Arnoux, Jean-Baptiste; Mochel, Fanny; Alkemade, Gonnie; Maillot, Francois; Kaphan, Elsa; Mazodier, Karin; Thomas, Quentin; Leguy-Seguin, Vanessa; Marelli, Cecilia Share Save
Effect of Triheptanoin on Caudate Atrophy and Motor Scores in Patients With Early-Stage Huntington Disease Mochel, Fanny; Meneret, Aurelie; Adanyeguh, Isaac M.; Giron, Camille; Hainque, Elodie; Luton, Marie-Pierre; Atencio, Mariana; Debs, Rabab; Jacobs, Milou; Veldkamp, Fleur C. M.; Barbier, Magali; Coppen, Emma M.; van der Zwaan, Kasper F.; Diallo, Abdourahmane; Ottolenghi, Chris; Vicaut, Eric; Roos, Raymond A.; Durr, Alexandra Share Save
Gene therapy in advanced metachromatic leukodystrophy: tempering expectations Schoenmakers, Daphne H.; Beerepoot, Shanice; Adang, Laura A.; Asbreuk, Marije A. B. C.; Bergner, Caroline G.; Bley, Annette E.; Boelens, Jaap-Jan; Calbi, Valeria; Darling, Alejandra; Eklund, Erik; Garcia Cazorla, Angeles; Gronborg, Sabine W.; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E. M.; Horgan, Claire; Jones, Simon; de Koning, Tom; Laugwitz, Lucia; Lindemans, Caroline; Martin, Pascal; Mochel, Fanny; Oberg, Andreas; Ram, Dipak; Sevin, Caroline; Schoels, Ludger; Zerem, Ayelet; Wolf, Nicole, I; Fumagalli, Francesca Share Save
Multiple Sclerosis Patient Macrophages Impaired Metabolism Leads to an Altered Response to Activation Stimuli Fransson, Jennifer; Bachelin, Corinne; Ichou, Farid; Guillot-Noel, Lena; Ponnaiah, Maharajah; Gloaguen, Arnaud; Maillart, Elisabeth; Stankoff, Bruno; Tenenhaus, Arthur; Fontaine, Bertrand; Mochel, Fanny; Louapre, Celine; Zujovic, Violetta Share Save
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Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy Golse, Marianne; Weinhofer, Isabelle; Blanco, Bernardo; Barbier, Magali; Yazbeck, Elise; Huiban, Camille; Chaumette, Boris; Pichon, Bertrand; Fatemi, Ali; Pascual, Silvia; Martinell, Marc; Berger, Johannes; Perlbarg, Vincent; Galanaud, Damien; Mochel, Fanny Share Save
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study Rezende, Thiago Junqueira Ribeiro; Adanyaguh, Isaac; Barsottini, Orlando G. P.; Bender, Benjamin; Cendes, Fernando; Coutinho, Leo; Deistung, Andreas; Dogan, Imis; Durr, Alexandra; Fernandez-Ruiz, Juan; Goericke, Sophia L.; Grisoli, Marina; Hernandez-Castillo, Carlos R.; Lenglet, Christophe; Mariotti, Caterina; Martinez, Alberto R. M.; Massuyama, Breno K.; Mochel, Fanny; Nanetti, Lorenzo; Nigri, Anna; Ono, Sergio E.; Oz, Gulin; Pedroso, Jose Luiz; Reetz, Kathrin; Synofzik, Matthis; Teive, Helio; Thomopoulos, Sophia, I; Thompson, Paul M.; Timmann, Dagmar; van de Warrenburg, Bart P. C.; van Gaalen, Judith; Franca Jr, Marcondes C.; Harding, Ian H. Share Save
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries Schoenmakers, Daphne H.; Mochel, Fanny; Adang, Laura A.; Boelens, Jaap-Jan; Calbi, Valeria; Eklund, Erik A.; Gronborg, Sabine W.; Fumagalli, Francesca; Groeschel, Samuel; Lindemans, Caroline; Sevin, Caroline; Schoels, Ludger; Ram, Dipak; Zerem, Ayelet; Graessner, Holm; Wolf, Nicole I. Share Save
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions Mereaux, Jean-Loup; Davoine, Claire-Sophie; Pellerin, David; Coarelli, Giulia; Coutelier, Marie; Ewenczyk, Claire; Monin, Marie -Lorraine; Anheim, Mathieu; Le Ber, Isabelle; Thobois, Stephane; Gobert, Florent; Guillot-Noel, Lena; Forlani, Sylvie; Jornea, Ludmila; Heinzmann, Anna; Sangare, Aude; Gaymard, Bertrand; Guyant-Marechal, Lucie; Charles, Perrine; Marelli, Cecilia; Honnorat, Jerome; Degos, Bertrand; Tison, Francois; Sangla, Sophie; Simonetta-Moreau, Marion; Salachas, Francois; Tchikviladze, Maya; Castelnovo, Giovanni; Mochel, Fanny; Klebe, Stephan; Castrioto, Anna; Fenu, Silvia; Meneret, Aurelie; Bourdain, Frederic; Wandzel, Marion; Roth, Virginie; Bonnet, Celine; Riant, Florence; Stevanin, Giovanni; Noel, Sandrine; Fauret-Amsellem, Anne-Laure; Bahlo, Melanie; Lockhart, Paul J.; Brais, Bernard; Renaud, Mathilde; Brice, Alexis; Durra, Alexandra Share Save
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Lischka, Annette; Eggermann, Katja; Record, Christopher J.; Dohrn, Maike F.; Lassuthova, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Soukalova, Jana; Laura, Matilde; Rossor, Alexander M.; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J.; Ungelenk, Martin; Debus, Karlien Y.; Feely, Shawna M. E.; Glaeser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M.; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramirez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sanchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques Junior, Wilson; Mercier, Sandra; Procaccio, Vincent; Bris, Celine; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M.; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J.; Mueller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B.; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgul, Behiye S.; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Joerg B.; Wood, John N.; Cox, James J.; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C.; Shy, Michael; Bennett, David L.; Baets, Jonathan; Huebner, Christian A.; Leipold, Enrico; Zuchner, Stephan; Elbracht, Miriam; Cakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C. Geoffrey; Reilly, Mary M.; Kurth, Ingo Share Save
Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis Lallemant-Dudek, Pauline; Parodi, Livia; Coarelli, Giulia; Heinzmann, Anna; Charles, Perrine; Ewenczyk, Claire; Fenu, Silvia; Monin, Marie-Lorraine; Corcia, Philippe; Depienne, Christel; Mochel, Fanny; Benard, Jean; Montcel, Sophie Tezenas du; Durr, Alexandra 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
Diagnosis and management of hepatic encephalopathy: The French recommendations Thabut, Dominique; Bouzbib, Charlotte; Meunier, Lucy; Haas, Manon; Weiss, Nicolas; Louvet, Alexandre; Imbert-Bismut, Francois; Mochel, Fanny; Nadjar, Yann; Santiago, Antoine; Thevenot, Thierry; Duhalde, Veronique; Oberti, Frederic; Francoz, Claire; Coilly, Audrey; Hilleret, Marie-Noelle; Lebray, Pascal; Liou-Schischmanoff, Amelie; Barbier, Louise; Duvoux, Christophe; Pageaux, Georges-Philippe; Bismuth, Michael; Galanaud, Damien; Broucker, Thomas De; Cadranel, Jean-Francois; Leroy, Vincent; Di Martino, Vincent; Larrey, Dominique; Camus, Christophe; Scatton, Olivier; De Ledinghen, Victor; Mallat, Ariane; Rudler, Marika; Bureau, Christophe Share Save
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia Pandolfo, Massimo; Reetz, Kathrin; Darling, Alejandra; de Rivera, Francisco Javier Rodriguez; Henry, Pierre-Gilles; Joers, James; Lenglet, Christophe; Adanyeguh, Isaac; Deelchand, Dinesh; Mochel, Fanny; Pousset, Francoise; Pascual, Silvia; Van den Eede, Delphine; Martin-Ugarte, Itziar; Vila-Brau, Anna; Mantilla, Adriana; Pascual, Maria; Martinell, Marc; Meya, Uwe; Durr, Alexandra Share Save
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