Niemann-Pick disease type C von Vanier, Marie T

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Complex lipid trafficking in Niemann-Pick disease type C von Vanier, Marie T.

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

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Disease and patient characteristics in NP-C patients: findings from an international disease registry von Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé

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Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update von Patterson, Marc C., Hendriksz, Christian J., Walterfang, Mark, Sedel, Frederic, Vanier, Marie T., Wijburg, Frits

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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 von Pettazzoni, Magali, Froissart, Roseline, Pagan, Cécile, Vanier, Marie T, Ruet, Séverine, Latour, Philippe, Guffon, Nathalie, Fouilhoux, Alain, Germain, Dominique P, Levade, Thierry, Vianey-Saban, Christine, Piraud, Monique, Cheillan, David

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Pharmacists practising in family medicine groups: What are their activities and needs? von Guénette, Line, Maheu, Anne, Vanier, Marie‐Claude, Dugré, Nicolas, Rouleau, Léonie, Lalonde, Lyne

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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 von Patterson, Marc C., Mengel, Eugen, Vanier, Marie T., Moneuse, Patrick, Rosenberg, Daniel, Pineda, Mercedes

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

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Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review von Vanier, Marie T., Gissen, Paul, Bauer, Peter, Coll, Maria J., Burlina, Alberto, Hendriksz, Christian J., Latour, Philippe, Goizet, Cyril, Welford, Richard W.D., Marquardt, Thorsten, Kolb, Stefan A.

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Secondary lipid accumulation in lysosomal disease von Walkley, Steven U., Vanier, Marie T.

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Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect von Nadjar, Yann, Hütter-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, Héron, Bénédicte

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

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

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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update von Patterson, Marc C, Clayton, Peter, Gissen, Paul, Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Dardis, Andrea, Dionisi-Vici, Carlo, Klünemann, Hans-Hermann, Latour, Philippe, Lourenço, Charles M, Ory, Daniel S, Parker, Alasdair, Pocoví, Miguel, Strupp, Michael, Vanier, Marie T, Walterfang, Mark, Marquardt, Thorsten

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Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B) von 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, de Vicente Corbeira, Daniel, Madathil, Shyam, Mengel, Eugen, Ezgü, Fatih, Pettazzoni, Magali, Sjouke, Barbara, Hollak, Carla, Vanier, Marie T, McGovern, Margaret, Schuchman, Edward

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Correction of Brain Oligodendrocytes by AAVrh.10 Intracerebral Gene Therapy in Metachromatic Leukodystrophy Mice von PIGUET, Françoise, SONDHI, Dolan, CARTIER, Nathalie, SEVIN, Caroline, PIRAUD, Monique, FOUQUET, Françoise, HACKETT, Neil R, AHOUANSOU, Ornella, VANIER, Marie-Thérèse, BIECHE, Ivan, AUBOURG, Patrick, CRYSTAL, Ronald G

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Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice von Niemir, Natalia, Rouvière, Laura, Besse, Aurore, Vanier, Marie T, Dmytrus, Jasmin, Marais, Thibaut, Astord, Stéphanie, Puech, Jean-Philippe, Panasyuk, Ganna, Cooper, Jonathan D, Barkats, Martine, Caillaud, Catherine

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

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Issues with deprescribing in haemodialysis: a qualitative study of patient and provider experiences von Bondurant‐David, Kaitlin, Dang, Sébastien, Levy, Shirel, Sperlea, David, Vanier, Marie‐Claude, Gerardi, Savannah, David, Pierre‐Marie

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