342 results on '"Caillaud, Catherine"'
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2. Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms
3. Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Sphingolipid Metabolism disorders Neuronal Ceroid Lipofuscinoses Neuronal Ceroid-Lipofuscinoses disorders
4. Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings
5. Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses
6. Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy—Oldest case of a presymptomatic enzyme therapy.
7. Efficient therapy for refractory Pompe disease by mannose 6-phosphate analogue grafting on acid α-glucosidase
8. Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1
9. Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019
10. Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study
11. Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses
12. First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease
13. Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
14. Laboratory diagnosis and follow-up of Romanian Gaucher disease patients
15. Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay
16. Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
17. Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
18. Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses
19. Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY
20. Neuronal ceroïd‐lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series
21. A new lysosomal storage disorder resembling Morquio syndrome in sibs
22. Neuronal Ceroid Lipofuscinoses
23. A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis
24. Correction of Glycogenosis Type 2 by Muscle-Specific Lentiviral Vector
25. A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
26. Plasma GM2 Ganglioside Potential Biomarker for Diagnosis, Prognosis and Disease Monitoring of GM2-Gangliosidosis
27. Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on β-Hexosaminidase Activity in Sandhoff Fibroblasts
28. Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation
29. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
30. Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease
31. Fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women: In reference to pharmacovigilance
32. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
33. Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms: New insights in homozygous GRN mutations
34. Neuronal ceroid lipofuscinoses
35. Lentiviral Vector Delivery of shRNA into Cultured Primary Myogenic Cells: A Tool for Therapeutic Target Validation
36. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
37. La céroïde-lipofuscinose neuronale : étude clinique, électroencéphalographique, radiologique et génétique d’une série maghrébine
38. A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease
39. Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease
40. Natural History of Adult Patients with GM2 Gangliosidosis
41. Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms
42. Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease
43. Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease
44. GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid β-Galactosidase
45. Bicistronic lentiviral vector corrects β-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts
46. Fabry Disease
47. Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II
48. Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome?
49. Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease
50. Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase α and β
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