Niemann-Pick disease type C

por Vanier, Marie T
Publicado 2010

GD3- and O-acetylated GD3-gangliosides in the GM2 synthase-deficient mouse brain and their immunohistochemical localization

por Matsuda, Junko, Vanier, Marie T., Popa, Iuliana, Portoukalian, Jacques, Suzuki, Kunihiko
Publicado 2006

Prevalence of Cancer in Acid Sphingomyelinase Deficiency

por Mauhin, Wladimir, Levade, Thierry, Vanier, Marie T., Froissart, Roseline, Lidove, Olivier
Publicado 2021

The Creation of a Practice-Based Network of Pharmacists Working in Family Medicine Groups (FMG)

por Maheu, Anne, Vanier, Marie-Claude, Rouleau, Léonie, Dugré, Nicolas, Guénette, Line
Publicado 2019

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

por Patterson, Marc C., Mengel, Eugen, Vanier, Marie T., Moneuse, Patrick, Rosenberg, Daniel, Pineda, Mercedes
Publicado 2020

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

por Bountouvi, Evangelia, Papadopoulou, Anna, Vanier, Marie T., Nyktari, Georgia, Kanellakis, Spyridon, Michelakakis, Helen, Dinopoulos, Argyrios
Publicado 2017

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort...

por Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Schwierin, Barbara, Muller, Audrey, Cornelisse, Peter, Pineda, Mercè
Publicado 2015

Pharmacists practising in family medicine groups: An evaluation 2 years after experiencing a virtual community of practice

por Guénette, Line, Maheu, Anne, Vanier, Marie-Claude, Dugré, Nicolas, Rouleau, Léonie, Roy-Petit, Jacynthe, Lalonde, Lyne
Publicado 2021

Disease and patient characteristics in NP-C patients: findings from an international disease registry

por Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Publicado 2013

Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry

por Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Publicado 2013

Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat

por Sedel, Frédéric, Chabrol, Brigitte, Audoin, Bertrand, Kaphan, Elsa, Tranchant, Christine, Burzykowski, Tomasz, Tourbah, Ayman, Vanier, Marie T., Galanaud, Damien
Publicado 2016

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

por McGovern, Margaret M., Wasserstein, Melissa P., Bembi, Bruno, Giugliani, Roberto, Mengel, K. Eugen, Vanier, Marie T., Zhang, Qi, Peterschmitt, M. Judith
Publicado 2021

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

por Davidson, Cristin D., Ali, Nafeeza F., Micsenyi, Matthew C., Stephney, Gloria, Renault, Sophie, Dobrenis, Kostantin, Ory, Daniel S., Vanier, Marie T., Walkley, Steven U.
Publicado 2009

Cdx2 homeoprotein inhibits non-homologous end joining in colon cancer but not in leukemia cells

por Renouf, Benjamin, Soret, Christine, Saandi, Thoueiba, Delalande, François, Martin, Elisabeth, Vanier, Marie, Duluc, Isabelle, Gross, Isabelle, Freund, Jean-Noël, Domon-Dell, Claire
Publicado 2012

Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice

por Ausseil, Jérôme, Desmaris, Nathalie, Bigou, Stéphanie, Attali, Ruben, Corbineau, Sébastien, Vitry, Sandrine, Parent, Mathieu, Cheillan, David, Fuller, Maria, Maire, Irène, Vanier, Marie-Thérèse, Heard, Jean-Michel
Publicado 2008

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

por 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
Publicado 2017

Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

por Patterson, Marc C., Garver, William S., Giugliani, Robert, Imrie, Jackie, Jahnova, Helena, Meaney, F John, Nadjar, Yann, Vanier, Marie T., Moneuse, Patrick, Morand, Olivier, Rosenberg, Daniel, Schwierin, Barbara, Héron, Benedicte
Publicado 2020

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

por Freihuber, Cécile, Dahmani-Rabehi, Bahia, Brassier, Anaïs, Broué, Pierre, Cances, Claude, Chabrol, Brigitte, Eyer, Didier, Labarthe, François, Latour, Philippe, Levade, Thierry, Pichard, Samia, Sevin, Caroline, Vanier, Marie T., Héron, Bénédicte
Publicado 2023

Efficacy and ototoxicity of different cyclodextrins in Niemann–Pick C disease

por Davidson, Cristin D., Fishman, Yonatan I., Puskás, István, Szemán, Julianna, Sohajda, Tamás, McCauliff, Leslie A., Sikora, Jakub, Storch, Judith, Vanier, Marie T., Szente, Lajos, Walkley, Steven U., Dobrenis, Kostantin
Publicado 2016

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

por Héron, Bénédicte, Valayannopoulos, Vassili, Baruteau, Julien, Chabrol, Brigitte, Ogier, Hélène, Latour, Philippe, Dobbelaere, Dries, Eyer, Didier, Labarthe, François, Maurey, Hélène, Cuisset, Jean-Marie, de Villemeur, Thierry Billette, Sedel, Frédéric, Vanier, Marie T
Publicado 2012