480 results on '"Laquerrière, Annie"'
Search Results
2. PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
3. Oligodendrocyte lineage is severely affected in human alcohol-exposed foetuses
4. A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
5. Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome
6. Amyloid-β peptide signature associated with cerebral amyloid angiopathy in familial Alzheimer's disease with APPdup and Down syndrome.
7. Genetics of Hydrocephalus: Causal and Contributory Factors
8. Expression of placental CD146 is dysregulated by prenatal alcohol exposure and contributes in cortical vasculature development and positioning of vessel-associated oligodendrocytes
9. Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging
10. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
11. Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
12. A new optimization strategy for MALDI FTICR MS tissue analysis for untargeted metabolomics using experimental design and data modeling
13. Prenatal alcohol exposure is a leading cause of interneuronopathy in humans
14. Prenatal Alcohol Exposure Impairs the Placenta–Cortex Transcriptomic Signature, Leading to Dysregulation of Angiogenic Pathways
15. Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency
16. Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma
17. Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma
18. Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination
19. Intégration des données histo-pathologiques, biochimiques et génomiques dans le diagnostic des mitochondrio-pathies
20. Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer’s disease
21. In UteroAlcohol Exposure Impairs Retinal Angiogenesis and the Microvessel-Associated Positioning of Calretinin Interneurons
22. De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy
23. Sphingolipidoses and Related Disorders
24. Microcephaly
25. Spinal Cord Lesions
26. DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
27. Rare ACTG1 variants in fetal microlissencephaly
28. Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications
29. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
30. Pediatric Chordomas: Results of a Multicentric Study of 40 Children and Proposal for a Histopathological Prognostic Grading System and New Therapeutic Strategies
31. Pathological changes induced by Alzheimer’s brain inoculation in amyloid-beta plaque-bearing mice
32. MYC and MYCN amplification can be reliably assessed by aCGH in medulloblastoma
33. Autopsy findings in EPG5‐related Vici syndrome with antenatal onset
34. Tumor cells with neuronal intermediate progenitor features define a subgroup of 1p/19q co‐deleted anaplastic gliomas
35. In Utero Alcohol Exposure Impairs Retinal Angiogenesis and the Microvessel-Associated Positioning of Calretinin Interneurons.
36. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation
37. Impact de l’alcoolisation in utero sur les interactions oligo-vasculaires au sein du néocortex en développement
38. DST Variants are Responsible for Neurogenic Arthrogryposis Multiplex Congenita Confirming the Large Clinical Spectrum of Type VI Hereditary Sensory Autonomic Neuropathy
39. GATA3 is not a diagnostic biomarker of central nervous system paragangliomas
40. Clinical and pathologic features of Aicardi–Goutières syndrome due to an IFIH1 mutation: A pediatric case report
41. Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency
42. Prognostic and Therapeutic Markers in Chordomas: A Study of 287 Tumors
43. Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency
44. Integrative Metabolomics Reveals Deep Tissue and Systemic Metabolic Remodeling in Glioblastoma
45. NMDA receptor blockade in the developing cortex induces autophagy-mediated death of immature cortical GABAergic interneurons: An ex vivo and in vivo study in Gad67-GFP mice
46. First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia
47. Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases
48. Amyloid precursor protein controls cholesterol turnover needed for neuronal activity
49. Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly
50. Posterior fossa solitary fibrous tumour: report of a fetal case and review of the literature
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