Niemann-Pick disease type C

Por Vanier, Marie T
Publicado em 2010

Pathomechanisms in Lysosomal Storage Disorders

Por Walkley, Steven U., Vanier, Marie T.
Publicado no Biochim Biophys Acta (2008)

Macrophages Counteract Demyelination in a Mouse Model of Globoid Cell Leukodystrophy

Por Kondo, Yoichi, Adams, Jessica M., Vanier, Marie T., Duncan, Ian D.
Publicado em 2011

Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood

Por Lidove, Olivier, Sedel, Frédéric, Charlotte, Frédéric, Froissart, Roseline, Vanier, Marie T.
Publicado no JIMD Rep (2014)

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 no Proc Jpn Acad Ser B Phys Biol Sci (2006)

Drug sample management in University of Montreal family medicine teaching units

Por Lussier, Marie-Thérèse, Vanier, Marie-Claude, Authier, Marie, Diallo, Fatoumata Binta, Gagnon, Justin
Publicado no Can Fam Physician (2015)

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 no Orphanet J Rare Dis (2015)

Endosomal/Lysosomal Processing of Gangliosides Affects Neuronal Cholesterol Sequestration in Niemann-Pick Disease Type C

Por Zhou, Sharon, Davidson, Cristin, McGlynn, Robert, Stephney, Gloria, Dobrenis, Kostantin, Vanier, Marie T., Walkley, Steven U.
Publicado em 2011

Neuropathology of the Mcoln1(−/−) Knockout Mouse Model of Mucolipidosis Type IV

Por Micsenyi, Matthew C., Dobrenis, Kostantin, Stephney, Gloria, Pickel, James, Vanier, Marie T., Slaugenhaupt, Susan A., Walkley, Steven U.
Publicado no J Neuropathol Exp Neurol (2009)

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 em 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 em 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 no J Neurol (2016)

Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and...

Por Millat, Gilles, Marçais, Christophe, Tomasetto, Catherine, Chikh, Karim, Fensom, Anthony H., Harzer, Klaus, Wenger, David A., Ohno, K., Vanier, Marie T.
Publicado em 2001

Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

Por Millat, Gilles, Chikh, Karim, Naureckiene, Saule, Sleat, David E., Fensom, Anthony H., Higaki, Katsumi, Elleder, Milan, Lobel, Peter, Vanier, Marie T.
Publicado em 2001

Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype

Por Millat, Gilles, Marçais, Christophe, Rafi, Mohammad A., Yamamoto, Toshiyuki, Morris, Jill A., Pentchev, Peter G., Ohno, Kousaku, Wenger, David A., Vanier, Marie T.
Publicado em 1999

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 em 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 em 2012

Partial blockage of sterol biosynthesis with a squalene synthase inhibitor in early postnatal Niemann-Pick type C npc(nih) null mice brains reduces neuronal cholesterol accumulatio...

Por Reid, Patrick C., Lin, Song, Vanier, Marie T., Ohno-Iwashita, Yoshiko, Harwood, H. James, Hickey, William F., Chang, Catherine C.Y., Chang, Ta-Yuan
Publicado em 2007

A cluster randomized controlled Trial to Evaluate an Ambulatory primary care Management program for patients with dyslipidemia: the TEAM study

Por Villeneuve, Julie, Genest, Jacques, Blais, Lucie, Vanier, Marie-Claude, Lamarre, Diane, Fredette, Marc, Lussier, Marie-Thérèse, Perreault, Sylvie, Hudon, Eveline, Berbiche, Djamal, Lalonde, Lyne
Publicado em 2010

Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding α-N-acetylglucosaminidase

Por Li, Hong Hua, Yu, Wei-Hong, Rozengurt, Nora, Zhao, Hui-Zhi, Lyons, Karen M., Anagnostaras, Stephan, Fanselow, Michael S., Suzuki, Kunihiko, Vanier, Marie T., Neufeld, Elizabeth F.
Publicado em 1999