The Creation of a Practice-Based Network of Pharmacists Working in Family Medicine Groups (FMG) by Anne Maheu, Marie-Claude Vanier, Léonie Rouleau, Nicolas Dugré, Line Guénette

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Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry by Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Patrick Moneuse, Daniel Rosenberg, Mercedes Pineda

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Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations by Evangelia Bountouvi, Anna Papadopoulou, Marie T. Vanier, Georgia Nyktari, Spyridon Kanellakis, Helen Michelakakis, Argyrios Dinopoulos

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Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation by Margaret M. McGovern, Melissa P. Wasserstein, Bruno Bembi, Roberto Giugliani, K. Eugen Mengel, Marie T. Vanier, Qi Zhang, M. Judith Peterschmitt

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Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. by Cristin D Davidson, Nafeeza F Ali, Matthew C Micsenyi, Gloria Stephney, Sophie Renault, Kostantin Dobrenis, Daniel S Ory, Marie T Vanier, Steven U Walkley

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Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice. by Jérôme Ausseil, Nathalie Desmaris, Stéphanie Bigou, Ruben Attali, Sébastien Corbineau, Sandrine Vitry, Mathieu Parent, David Cheillan, Maria Fuller, Irène Maire, Marie-Thérèse Vanier, Jean-Michel Heard

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LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. by Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan

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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 by Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier, Bénédicte Héron

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Cross-Sector Collaboration to Improve Access to Community Services for People Living With Diabetes: Contributions From Actor-Network Theory by Géraldine Layani, Alexandre Tremblay, Marie-Thérèse Lussier, Isabelle Godbout, Hélène Bihan, Claire Gosselin, Mégane Pierre, Aude Motulsky, Isabelle Brault, Isabel Rodrigues, Janusz Kaczorowski, Marie-Claude Vanier, Sopie Marielle Yapi

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RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE by James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm

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RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE by James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm

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Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease. by Marcelina Malinowska, Fiona L Wilkinson, Kia J Langford-Smith, Alex Langford-Smith, Jillian R Brown, Brett E Crawford, Marie T Vanier, Grzegorz Grynkiewicz, Rob F Wynn, J Ed Wraith, Grzegorz Wegrzyn, Brian W Bigger

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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations by Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek

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Acid sphingomyelinase deficiency in France: a retrospective survival study by Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group

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Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders. by Michael Zech, Georg Nübling, Florian Castrop, Angela Jochim, Eva C Schulte, Brit Mollenhauer, Peter Lichtner, Annette Peters, Christian Gieger, Thorsten Marquardt, Marie T Vanier, Philippe Latour, Hans Klünemann, Claudia Trenkwalder, Janine Diehl-Schmid, Robert Perneczky, Thomas Meitinger, Konrad Oexle, Bernhard Haslinger, Stefan Lorenzl, Juliane Winkelmann

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Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B) by Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla Hollak, Marie T. Vanier, Margaret McGovern, Edward Schuchman

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Consensus clinical management guidelines for Niemann-Pick disease type C by Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)

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