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Catherine Caillaud

Showing results (31-40 of 86) with videos related to

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AJNR. American Journal of Neuroradiology|May 16, 2003
Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girlMarie-Cécile Nassogne, Marie-Christine Commare, Arielle Lellouch-Tubiana, et al.
Molecular Neurobiology|December 21, 2013
Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblastsElena Chiricozzi, Natalia Niemir, Massimo Aureli, et al.
European Journal of Medical Genetics|November 19, 2015
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delayJosé-Mario Capo-Chichi, Cybel Mehawej, Valerie Delague, et al.
La Tunisie Medicale|November 26, 2009
[Enzyme replacement therapy for Gaucher paediatric disease: the only Tunisian experience]Hadhami Ben Turkia, Hatem Azzouz, Néji Tebib, et al.
The Journal of Biological Chemistry|February 28, 2009
Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent mannerHélène Autefage, Virginie Albinet, Virginie Garcia, et al.
Neuromuscular Disorders : NMD|August 19, 2003
Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiencyClaire Wary, Pascal Laforêt, Bruno Eymard, et al.
Neurobiology of Disease|June 15, 2005
Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblastsAudrey Arfi, Christophe Bourgoin, Luisa Basso, et al.
Stem Cells and Development|August 27, 2011
Bone marrow microenvironment in an in vitro model of Gaucher disease: consequences of glucocerebrosidase deficiencySéverine Lecourt, Valérie Vanneaux, Audrey Cras, et al.
Annals of Neurology|January 30, 2020
Natural History of Adult Patients with GM2 GangliosidosisMarion Masingue, Louis Dufour, Timothée Lenglet, et al.
Clinical Genetics|July 7, 2022
Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian seriesThouraya Ben Younes, Ichraf Kraoua, Sarah Snanoudj, et al.
Pageof 9

Showing results (31-40 of 86) with videos related to

Sort By:
Pageof 9
AJNR. American Journal of Neuroradiology|May 16, 2003
Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girlMarie-Cécile Nassogne, Marie-Christine Commare, Arielle Lellouch-Tubiana, et al.
Molecular Neurobiology|December 21, 2013
Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblastsElena Chiricozzi, Natalia Niemir, Massimo Aureli, et al.
European Journal of Medical Genetics|November 19, 2015
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delayJosé-Mario Capo-Chichi, Cybel Mehawej, Valerie Delague, et al.
La Tunisie Medicale|November 26, 2009
[Enzyme replacement therapy for Gaucher paediatric disease: the only Tunisian experience]Hadhami Ben Turkia, Hatem Azzouz, Néji Tebib, et al.
The Journal of Biological Chemistry|February 28, 2009
Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent mannerHélène Autefage, Virginie Albinet, Virginie Garcia, et al.
Neuromuscular Disorders : NMD|August 19, 2003
Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiencyClaire Wary, Pascal Laforêt, Bruno Eymard, et al.
Neurobiology of Disease|June 15, 2005
Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblastsAudrey Arfi, Christophe Bourgoin, Luisa Basso, et al.
Stem Cells and Development|August 27, 2011
Bone marrow microenvironment in an in vitro model of Gaucher disease: consequences of glucocerebrosidase deficiencySéverine Lecourt, Valérie Vanneaux, Audrey Cras, et al.
Annals of Neurology|January 30, 2020
Natural History of Adult Patients with GM2 GangliosidosisMarion Masingue, Louis Dufour, Timothée Lenglet, et al.
Clinical Genetics|July 7, 2022
Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian seriesThouraya Ben Younes, Ichraf Kraoua, Sarah Snanoudj, et al.
Pageof 9