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1. PHF21A Related Disorder: Description of a New Case

2. Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

3. Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs

4. A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype

5. EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study

6. Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis.

7. Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis

8. Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype 5 (mGlu5) control stress granule formation in astrocytes

10. Novel compound heterozygous mutation in

11. Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset

12. Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs

13. Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

14. Novel c.C2254T (p.Q752*) mutation in

15. GRIN2A: involvement in movement disorders and intellectual disability without seizures

16. Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

17. Dysregulation of group-I metabotropic glutamate (mGlu) receptor mediated signalling in disorders associated with Intellectual Disability and Autism

18. Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

19. Carrier screening for spinal muscular atrophy in Italian population

20. Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes

21. 6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases

22. Fragile X mental retardation protein (FMRP) interacting proteins exhibit different expression patterns during development

23. Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis

24. Different EEG frequency band synchronization during nocturnal frontal lobe seizures

25. Heart rate variability during sleep in children with partial epilepsy

26. Scalp Topographic Distribution of Beta and Gamma Ratios During Sleep

27. Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

28. Relationship between Delta, Sigma, Beta, and Gamma EEG bands at REM sleep onset and REM sleep end

29. Chromosome Abnormalities and Epilepsy

30. Does a peculiar EEG pattern exist also for FRAXE mental retardation?

31. The time course of high-frequency bands (15–45 Hz) in all-night spectral analysis of sleep EEG

32. Sleep in subjects with autistic disorder: a neurophysiological and psychological study

33. Epilepsy and EEG Findings in Males with Fragile X Syndrome

34. Heart rate variability and apnea during sleep in Down's syndrome

35. Anomalie della migrazione neuronale e dell'organizzazione corticale nell'epilessia

36. Myoclonic Absence-Like Seizures and Chromosome Abnormality Syndromes

37. Sleep Neurophysiopathology in Down syndrome

38. Brain Morphometry and Psychobehavioural Measures in Autistic Low-Functioning Subjects

39. Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis

40. Chaotic behavior of EEG slow-wave activity during sleep

41. Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study

42. Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua

43. Seizures in Klinefelter's syndrome: A clinical and EEG study of five patients

44. A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome

45. The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

46. 5-HT1A and 5-HT7 receptors differently modulate AMPA receptor-mediated hippocampal synaptic transmission

47. BIT-mapped somatosensory evoked potentials in the fragile X syndrome

48. Bit-mapped somatosensory evoked potentials in Down's syndrome individuals

49. Giant somatosensory evoked potentials and pathophysiology of hyperekplexia. Neurophysiological study of one patient

50. Activation of 5-HT7 serotonin receptors reverses metabotropic glutamate receptor-mediated synaptic plasticity in wild-type and Fmr1 knockout mice, a model of Fragile X syndrome

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