检索结果 - Irène Maire
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1
Improved Behavior and Neuropathology in the Mouse Model of Sanfilippo Type IIIB Disease after Adeno-Associated Virus-Mediated Gene Transfer in the Striatum 由 Arnaud Cressant, Nathalie Desmaris, Lucie Vérot, Thomas Bréjot, Roseline Froissart, Marie-T. Vanier, Irène Maire, Jean Michel Heard
出版 2004Artigo -
2
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a 由 Maria Veiga‐da‐Cunha, Isabelle Gerin, Yuan‐Tsong Chen, Philip Lee, James V. Leonard, Irène Maire, Udo Wendel, Miikka Vikkula, Emile Van Schaftingen
出版 1999Artigo -
3
Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice 由 Jérôme Ausseil, Nathalie Desmaris, Stéphanie Bigou, Ruben Attali, Sébastien Corbineau, Sandrine Vitry, Mathieu Parent, David Cheillan, Maria Fuller, Irène Maire, Marie‐Thérèse Vanier, Jean‐Michel Heard
出版 2008Artigo -
4
A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic 由 Maria Veiga‐da‐Cunha, Isabelle Gerin, Yuan‐Tsong Chen, Thierry de Barsy, Pascale de Lonlay, Carlo Dionisi‐Vici, Christiane Fenske, Philip Lee, James V. Leonard, Irène Maire, Allyn McConkie‐Rosell, Susanne Schweitzer, Miikka Vikkula, Emile Van Schaftingen
出版 1998Artigo -
5
Safe, Efficient, and Reproducible Gene Therapy of the Brain in the Dog Models of Sanfilippo and Hurler Syndromes 由 N. Matthew Ellinwood, Jérôme Ausseil, Nathalie Desmaris, Stéphanie Bigou, Song Liu, Jackie K. Jens, Elizabeth Snella, Eman Mohammed, Chris Thomson, Sylvie Raoul, Béatrice Joussemet, Françoise Roux, Yan Chérel, Y Lajat, Monique Piraud, Rachid Benchaouir, Stephan Hermening, Harald Petry, Roseline Froissart, Marc Tardieu, Carine Ciron, Philippe Moullier, J. Parkes, Karen L. Kline, Irène Maire, Marie‐Thérèse Vanier, Jean‐Michel Heard, Marie-Anne Colle
出版 2010Artigo -
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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) 由 Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe, Stéphanie Durand, Nicole M. Roslin, Lenka Nosková, Hana Hartmannová, Robert Ivánek, Alena Čížková, Helena Poupětová, Jakub Sikora, Jana Uřinovská, Viktor Stránecký, J Zeman, Pierre Lepage, David Roquis, Andrei Verner, Jérôme Ausseil, Clare Beesley, Irène Maire, Ben J. H. M. Poorthuis, Jiddeke van de Kamp, Otto P. van Diggelen, Ron A. Wevers, Thomas J. Hudson, Takuya Fujiwara, Jacek Majewski, Kenneth Morgan, Stanislav Kmoch, Alexey V. Pshezhetsky
出版 2006Artigo
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Biology
Gene
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Chromosomal translocation
Immunology
Lysosomal storage disease
Molecular biology
Mucopolysaccharidosis
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Neurodegeneration
Recombinant DNA
Translocase
Vector (molecular biology)
Adeno-associated virus
Cell
Cell biology
Chemokine
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Dopamine
Endocrinology
Enzyme
Enzyme replacement therapy
Frameshift mutation
Gene mutation
Gene transfer