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1.

Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes.

Ellinwood, N Matthew; Ausseil, Jérôme; Desmaris, Nathalie; Bigou, Stéphanie; Liu, Song; Jens, Jackie K; Snella, Elizabeth M; Mohammed, Eman E A; Thomson, Christopher B; Raoul, Sylvie; Joussemet, Béatrice; Roux, Françoise; Chérel, Yan; Lajat, Yaouen; Piraud, Monique; Benchaouir, Rachid; Hermening, Stephan; Petry, Harald; Froissart, Roseline; Tardieu, Marc; Ciron, Carine; Moullier, Philippe; Parkes, Jennifer; Kline, Karen L; Maire, Irène; Vanier, Marie-Thérèse; Heard, Jean-Michel; Colle, Marie-Anne.

Mol Ther ; 19(2): 251-9, 2011 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-21139569

2.

[Lysosomal proteolysis; overview of lysosomal diseases]. / Le système lysosomial dans la protéolyse: panorama des maladies lysosomiales.

Maire, Irène.

Bull Acad Natl Med ; 196(8): 1561-72; discussion 1572-4, 2012 Nov.

Artículo en Francés | MEDLINE | ID: mdl-24313012

3.

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.

Héron, Bénédicte; Mikaeloff, Yann; Froissart, Roseline; Caridade, Guillaume; Maire, Irène; Caillaud, Catherine; Levade, Thierry; Chabrol, Brigitte; Feillet, François; Ogier, Hélène; Valayannopoulos, Vassili; Michelakakis, Helen; Zafeiriou, Dimitrios; Lavery, Lucy; Wraith, Ed; Danos, Olivier; Heard, Jean-Michel; Tardieu, Marc.

Am J Med Genet A ; 155A(1): 58-68, 2011 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-21204211

4.

[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects]. / La leucodystrophie métachromatique Aspects clinique, biologique et thérapeutique.

Barboura, Ilhem; Ferchichi, Salima; Dandana, Azza; Jaidane, Zaineb; Ben Khelifa, Souhaira; Chahed, Hinda; Ben Mansour, Rachida; Chebel, Saber; Maire, Irène; Miled, Abdelhedi.

Ann Biol Clin (Paris) ; 68(4): 385-91, 2010.

Artículo en Francés | MEDLINE | ID: mdl-20650733

5.

Abnormal expression of truncated CRMP-1 protein in the brain cortex of MPSIIIB mice.

Cheillan, David; Malleval, Céline; Ausseil, Jérôme; Vitry, Sandrine; Heard, Jean-Michel; Maire, Irène; Honnorat, Jérôme; Belin, Marie-Françoise; Touret, Monique.

Mol Genet Metab ; 94(1): 135-8, 2008 May.

Artículo en Inglés | MEDLINE | ID: mdl-18325808

6.

Mucopolysaccharidosis type II: an update on mutation spectrum.

Froissart, Roseline; Da Silva, Isabel Moreira; Maire, Irène.

Acta Paediatr ; 96(455): 71-7, 2007 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-17391447

7.

[Lysosomal storage diseases: functional classification and treatment principles]. / Maladies de surcharge lysosomale: classification fonctionnelle et principes thérapeutiques.

Maire, Irène.

Presse Med ; 36 Spec No 1: 1S88-95, 2007 Mar.

Artículo en Francés | MEDLINE | ID: mdl-17546775

8.

Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.

Tomatsu, Shunji; Sukegawa, Kazuko; Trandafirescu, Georgeta G; Gutierrez, Monica A; Nishioka, Tatsuo; Yamaguchi, Seiji; Orii, Tadao; Froissart, Roseline; Maire, Irene; Chabas, Amparo; Cooper, Alan; Di Natale, Paola; Gal, Andreas; Noguchi, Akihiko; Sly, William S.

Eur J Hum Genet ; 14(7): 838-45, 2006 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-16617305

9.

Type 2 Gaucher disease: 15 new cases and review of the literature.

Mignot, Cyril; Doummar, Diana; Maire, Irène; De Villemeur, Thierry Billette.

Brain Dev ; 28(1): 39-48, 2006 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-16485335

10.

Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum.

Cressant, Arnaud; Desmaris, Nathalie; Verot, Lucie; Bréjot, Thomas; Froissart, Roseline; Vanier, Marie-T; Maire, Irène; Heard, Jean Michel.

J Neurosci ; 24(45): 10229-39, 2004 Nov 10.

Artículo en Inglés | MEDLINE | ID: mdl-15537895

11.

Molecular pathology of NEU1 gene in sialidosis.

Seyrantepe, Volkan; Poupetova, Helena; Froissart, Roseline; Zabot, Marie-Thérèse; Maire, Irène; Pshezhetsky, Alexey V.

Hum Mutat ; 22(5): 343-52, 2003 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-14517945

12.

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.

Yasuda, Makiko; Shabbeer, Junaid; Benson, Stacy D; Maire, Irene; Burnett, Roger M; Desnick, Robert J.

Hum Mutat ; 22(6): 486-92, 2003 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-14635108

13.

[Fabry's disease]. / Maladie de Fabry.

Maire, Irène; Belmatoug, Nadia.

Presse Med ; 36(1 Pt 1): 69-70, 2007 Jan.

Artículo en Francés | MEDLINE | ID: mdl-17261453

14.

[A rare genetic disease: multiple sulfatase deficiency]. / Une maladie génétique rare: le déficit multiple en sulfatases.

Maire, Irène.

Med Sci (Paris) ; 19(11): 1056-8, 2003 Nov.

Artículo en Francés | MEDLINE | ID: mdl-14648473

15.

Liver circadian clock, a pharmacologic target of cyclin-dependent kinase inhibitor seliciclib.

Iurisci, Ida; Filipski, Elisabeth; Sallam, Hatem; Harper, Francis; Guettier, Catherine; Maire, Irène; Hassan, Moustapha; Iacobelli, Stefano; Lévi, Francis.

Chronobiol Int ; 26(6): 1169-88, 2009 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-19731111

16.

Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice.

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.

PLoS One ; 3(5): e2296, 2008 May 28.

Artículo en Inglés | MEDLINE | ID: mdl-18509511

17.

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.

Latour, Philippe; Gonnaud, Pierre-Marie; Ollagnon, Elisabeth; Chan, Victor; Perelman, Serge; Stojkovic, Tanya; Stoll, Claude; Vial, Christophe; Ziegler, François; Vandenberghe, Antoon; Maire, Irène.

J Peripher Nerv Syst ; 11(2): 148-55, 2006 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-16787513

18.

Gene therapy of the brain in the dog model of Hurler's syndrome.

Ciron, Carine; Desmaris, Nathalie; Colle, Marie-Anne; Raoul, Sylvie; Joussemet, Béatrice; Vérot, Lucie; Ausseil, Jérôme; Froissart, Roseline; Roux, Françoise; Chérel, Yan; Ferry, Nicolas; Lajat, Yaouen; Schwartz, Bertrand; Vanier, Marie-Thérèse; Maire, Irène; Tardieu, Marc; Moullier, Philippe; Heard, Jean-Michel.

Ann Neurol ; 60(2): 204-13, 2006 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-16718701

19.

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Hrebícek, Martin; Mrázová, Lenka; Seyrantepe, Volkan; Durand, Stéphanie; Roslin, Nicole M; Nosková, Lenka; Hartmannová, Hana; Ivánek, Robert; Cízkova, Alena; Poupetová, Helena; Sikora, Jakub; Urinovská, Jana; Stranecký, Viktor; Zeman, Jirí; Lepage, Pierre; Roquis, David; Verner, Andrei; Ausseil, Jérome; Beesley, Clare E; Maire, Irène; Poorthuis, Ben J H M; van de Kamp, Jiddeke; van Diggelen, Otto P; Wevers, Ron A; Hudson, Thomas J; Fujiwara, T Mary; Majewski, Jacek; Morgan, Kenneth; Kmoch, Stanislav; Pshezhetsky, Alexey V.

Am J Hum Genet ; 79(5): 807-19, 2006 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-17033958

20.

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.

Froissart, Roseline; Guffon, Nathalie; Vanier, Marie T; Desnick, Robert J; Maire, Irene.

Mol Genet Metab ; 80(3): 307-14, 2003 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-14680977

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Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes.

[Lysosomal proteolysis; overview of lysosomal diseases]. / Le système lysosomial dans la protéolyse: panorama des maladies lysosomiales.

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.

[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects]. / La leucodystrophie métachromatique Aspects clinique, biologique et thérapeutique.

Abnormal expression of truncated CRMP-1 protein in the brain cortex of MPSIIIB mice.

Mucopolysaccharidosis type II: an update on mutation spectrum.

[Lysosomal storage diseases: functional classification and treatment principles]. / Maladies de surcharge lysosomale: classification fonctionnelle et principes thérapeutiques.

Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.

Type 2 Gaucher disease: 15 new cases and review of the literature.

Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum.

Molecular pathology of NEU1 gene in sialidosis.

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.

[Fabry's disease]. / Maladie de Fabry.

[A rare genetic disease: multiple sulfatase deficiency]. / Une maladie génétique rare: le déficit multiple en sulfatases.

Liver circadian clock, a pharmacologic target of cyclin-dependent kinase inhibitor seliciclib.

Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice.

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.

Gene therapy of the brain in the dog model of Hurler's syndrome.

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.