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M T Vanier

Showing results (131-140 of 156) with videos related to

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The Journal of Biological Chemistry|October 29, 2000
The steroidogenic acute regulatory protein homolog MLN64, a late endosomal cholesterol-binding proteinF Alpy, M E Stoeckel, A Dierich, et al.
American Journal of Human Genetics|July 1, 1992
Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at riskM T Vanier, C Rodriguez-Lafrasse, R Rousson, et al.
Human Mutation|July 9, 2004
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codonM G Pittis, V Ricci, V I Guerci, et al.
Clinical Genetics|October 9, 2007
Non-neuronopathic Gaucher disease due to saposin C deficiencyA Tylki-Szymańska, B Czartoryska, M-T Vanier, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 10, 1999
Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidaseH H Li, W H Yu, N Rozengurt, et al.
Human Molecular Genetics|April 18, 2000
Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouseY Liu, Y P Wu, R Wada, et al.
Avian Diseases|April 1, 1995
Gangliosidosis in emus (Dromaius novaehollandiae)A J Bermudez, G C Johnson, M T Vanier, et al.
American Journal of Medical Genetics|April 5, 2002
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fracturesP Volders, J Van Hove, R J U Lories, et al.
Gut|February 18, 2009
Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2S Modica, A Morgano, L Salvatore, et al.
Gene Therapy|November 10, 2006
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transferC Sevin, L Verot, A Benraiss, et al.
Pageof 16

Showing results (131-140 of 156) with videos related to

Sort By:
Pageof 16
The Journal of Biological Chemistry|October 29, 2000
The steroidogenic acute regulatory protein homolog MLN64, a late endosomal cholesterol-binding proteinF Alpy, M E Stoeckel, A Dierich, et al.
American Journal of Human Genetics|July 1, 1992
Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at riskM T Vanier, C Rodriguez-Lafrasse, R Rousson, et al.
Human Mutation|July 9, 2004
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codonM G Pittis, V Ricci, V I Guerci, et al.
Clinical Genetics|October 9, 2007
Non-neuronopathic Gaucher disease due to saposin C deficiencyA Tylki-Szymańska, B Czartoryska, M-T Vanier, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 10, 1999
Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidaseH H Li, W H Yu, N Rozengurt, et al.
Human Molecular Genetics|April 18, 2000
Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouseY Liu, Y P Wu, R Wada, et al.
Avian Diseases|April 1, 1995
Gangliosidosis in emus (Dromaius novaehollandiae)A J Bermudez, G C Johnson, M T Vanier, et al.
American Journal of Medical Genetics|April 5, 2002
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fracturesP Volders, J Van Hove, R J U Lories, et al.
Gut|February 18, 2009
Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2S Modica, A Morgano, L Salvatore, et al.
Gene Therapy|November 10, 2006
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transferC Sevin, L Verot, A Benraiss, et al.
Pageof 16