135 results on '"Coupry, Isabelle"'
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2. Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA)
3. Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes
4. Intégration des données histo-pathologiques, biochimiques et génomiques dans le diagnostic des mitochondrio-pathies
5. CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56
6. Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5
7. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
8. Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation
9. Atypical male and female presentations of FLNA-related periventricular nodular heterotopia
10. Additional file 1 of Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
11. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation
12. Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid
13. Ancestral origins of the prion protein gene D178N mutation in the Basque Country
14. A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A
15. REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
16. A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia
17. Ophthalmological Features Associated With COL4A1 Mutations
18. Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33
19. X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
20. Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
21. Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αβ Activation
22. Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5
23. CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56
24. Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
25. Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin α IIb β 3 Activation
26. Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
27. Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation
28. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay
29. Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation.
30. Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations
31. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome
32. A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A
33. Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome
34. COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
35. Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients
36. Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy
37. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR
38. Clotrimazole and efaroxan inhibit red cell Gardos channel independently of imidazoline I1 and I2 binding sites
39. Localization of I2-Imidazoline Binding Sites on Monoamine Oxidases
40. Behavioural and biochemical evidence that glucocorticoids are not involved in DOI-elicited 5-HT2 receptor down-regulation
41. Characterization of Imidazoline-Guanidinium Receptive Sites in Renal Medulla From Human Kidney
42. Renal Imidazoline-Guanidinium Receptive Site
43. Ancestral origins of the prion protein gene D178N mutation in the Basque Country.
44. Interaction of clonidine and rilmenidine with imidazoline-preferring receptors.
45. Mitochondrial Morpho-Functional Dysfunction in SPG31 Patients
46. Evidence for imidazoline binding sites in basolateral membranes from rabbit kidney
47. Different Affinities of α2-Agonists for Imidazoline and α2-Adrenergic Receptors
48. Interaction of clonidine and rilmenidine with imidazolinepreferring receptors
49. Cortical [ 3H]ketanserin binding and 5-HT 2A receptor-mediated behavioral responses in obese Zucker rats
50. Behavioural and biochemical evidence that glucocorticoids are not involved in DOI-elicited 5-HT 2 receptor down-regulation
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