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

Cessation of rapid late endosomal tubulovesicular trafficking in Niemann–Pick type C1 disease

Por Zhang, Mei, Dwyer, Nancy K., Love, Dona C., Cooney, Adele, Comly, Marcy, Neufeld, Edward, Pentchev, Peter G., Blanchette-Mackie, E. Joan, Hanover, John A.
Publicado em 2001

Niemann-Pick C1 protein: Obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization

Por Watari, Hidemichi, Blanchette-Mackie, E. Joan, Dwyer, Nancy K., Glick, Jane M., Patel, Shutish, Neufeld, Edward B., Brady, Roscoe O., Pentchev, Peter G., Strauss, Jerome F.
Publicado em 1999

Prenatal diagnosis of Niemann-Pick type C disease: Current strategy from an experience of 37 pregnancies at risk

Por Vanier, Marie T., Rodriguez-Lafrasse, Claire, Rousson, Robert, Mandon, Ginette, Boué, Joëlle, Choiset, Agnès, Peyrat, Marie-France, Dumontel, Christiane, Juge, Marie-Christine, Pentchev, Peter G., Revol, André, Louisot, Pierre
Publicado em 1992

Localization of Niemann–Pick C1 protein in astrocytes: Implications for neuronal degeneration in Niemann– Pick type C disease

Por Patel, Shutish C., Suresh, Sundar, Kumar, Ujendra, Hu, C. Y., Cooney, Adele, Blanchette-Mackie, E. Joan, Neufeld, Edward B., Patel, Ramesh C., Brady, Roscoe O., Patel, Yogesh C., Pentchev, Peter G., Ong, Wei-Yi
Publicado em 1999

Substantial narrowing of the Niemann–Pick C candidate interval by yeast artificial chromosome complementation

Por Gu, Jessie Z., Carstea, Eugene D., Cummings, Christiano, Morris, Jill A., Loftus, Stacie K., Zhang, Dana, Coleman, Katherine G., Cooney, Adele M., Comly, Marcy E., Fandino, Laura, Roff, Calvin, Tagle, Danilo A., Pavan, William J., Pentchev, Peter G., Rosenfeld, Melissa A.
Publicado em 1997