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Acid sphingomyelinase deficiency in France: a retrospective survival study Mauhin, Wladimir; Guffon, Nathalie; Vanier, Marie T.; Froissart, Roseline; Cano, Aline; Douillard, Claire; Lavigne, Christian; Heron, Benedicte; Belmatoug, Nadia; Uzunhan, Yurdagul; Lacombe, Didier; Levade, Thierry; Duvivier, Aymeric; Pulikottil-Jacob, Ruth; Laredo, Fernando; Pichard, Samia; Lidove, Olivier Share Save
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study Freihuber, Cecile; Dahmani-Rabehi, Bahia; Brassier, Anais; Broue, Pierre; Cances, Claude; Chabrol, Brigitte; Eyer, Didier; Labarthe, Francois; Latour, Philippe; Levade, Thierry; Pichard, Samia; Sevin, Caroline; Vanier, Marie T.; Heron, Benedicte Share Save
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B) Geberhiwot, Tarekegn; Wasserstein, Melissa; Wanninayake, Subadra; Bolton, Shaun Christopher; Dardis, Andrea; Lehman, Anna; Lidove, Olivier; Dawson, Charlotte; Giugliani, Roberto; Imrie, Jackie; Hopkin, Justin; Green, James; Corbeira, Daniel de Vicente; Madathil, Shyam; Mengel, Eugen; Ezgu, Fatih; Pettazzoni, Magali; Sjouke, Barbara; Hollak, Carla; Vanier, Marie T.; McGovern, Margaret; Schuchman, Edward Share Save
A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France Gardin, Antoine; Mussini, Charlotte; Heron, Benedicte; Schiff, Manuel; Brassier, Anais; Dobbelaere, Dries; Broue, Pierre; Sevin, Caroline; Vanier, Marie T.; Habes, Dalila; Jacquemin, Emmanuel; Gonzales, Emmanuel Share Save
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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR) Bolton, Shaun C.; Soran, Vina; Marfa, Mercedes Pineda; Imrie, Jackie; Gissen, Paul; Jahnova, Helena; Sharma, Reena; Jones, Simon; Santra, Saikat; Crushell, Ellen; Stampfer, Miriam; Coll, Maria Jose; Dawson, Charlotte; Mathieson, Toni; Green, James; Dardis, Andrea; Bembi, Bruno; Patterson, Marc C.; Vanier, Marie T.; Geberhiwot, Tarekegn Share Save
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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations Musalkova, Dita; Majer, Filip; Kuchar, Ladislav; Luksan, Ondrej; Asfaw, Befekadu; Vlaskova, Hana; Storkanova, Gabriela; Reboun, Martin; Poupetova, Helena; Jahnova, Helena; Hulkova, Helena; Ledvinova, Jana; Dvorakova, Lenka; Sikora, Jakub; Jirsa, Milan; Vanier, Marie T.; Hrebicek, Martin Share Save
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Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect Nadjar, Yann; Hutter-Moncada, Ana Lucia; Latour, Philippe; Ayrignac, Xavier; Kaphan, Elsa; Tranchant, Christine; Cintas, Pascal; Degardin, Adrian; Goizet, Cyril; Laurencin, Chloe; Martzolff, Lionel; Tilikete, Caroline; Anheim, Mathieu; Audoin, Bertrand; Deramecourt, Vincent; De Gaillarbois, Thierry Dubard; Roze, Emmanuel; Lamari, Foudil; Vanier, Marie T.; Heron, Benedicte Share Save
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Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: A national French retrospective study Freihuber, Cecile; Dahmani, Bahia; Brassier, Anais; Broue, Pierre; Cances, Claude; Chabrol, Brigitte; Eyer, Didier; Labarthe, Fancois; Latour, Philippe; Levade, Thierry; Pichard, Samia; Sevin, Caroline; Vanier, Marie Therese; Heron, Benedicte Share Save
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type Pichard, Samia; Mercati, Oriane; Bouchereau, Juliette; Ouachee, Marie; Froissart, Roseline; Fenneteau, Odile; Roche, Bastien; Elmaleh, Monique; Bertrand, Yves; De Baulny, Helene Ogier; Vanier, Marie Therese; Schiff, Manuel Share Save
Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice Niemir, Natalia; Rouviere, Laura; Besse, Aurore; Vanier, Marie T.; Dmytrus, Jasmin; Marais, Thibaut; Astord, Stephanie; Puech, Jean-Philippe; Panasyuk, Ganna; Cooper, Jonathan D.; Barkats, Martine; Caillaud, Catherine Share Save
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Fine-tuning and autoregulation of the intestinal determinant and tumor suppressor homeobox gene &ITCDX2&IT by alternative splicing Balbinot, Camille; Vanier, Marie; Armant, Olivier; Nair, Asmaa; Penichon, Julien; Soret, Christine; Martin, Elisabeth; Saandi, Thoueiba; Reimund, Jean-Marie; Deschamps, Jacqueline; Beck, Felix; Domon-Dell, Claire; Gross, Isabelle; Duluc, Isabelle; Freund, Jean-Noel Share Save
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