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31 results on '"Cereda, Cristina"'

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1. Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

2. Additional file 3 of Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases

3. Additional file 1 of Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases

4. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

5. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

6. RNA-seq Characterization of Sex-Differences in Adipose Tissue of Obesity Affected Patients: Computational Analysis of Differentially Expressed Coding and Non-Coding RNAs

7. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

8. Transcriptome Analysis of Subcutaneous Adipose Tissue from Severely Obese Patients Highlights Deregulation Profiles in Coding and Non-Coding Oncogenes

9. Hsp90‐mediated regulation of DYRK3 couples stress granule disassembly and growth via mTORC1 signaling

11. The role of clinical and neuroimaging features in the diagnosis of CADASIL

12. Blood-Based Biomarker Candidates of Cerebral Amyloid Using PiB PET in Non-Demented Elderly

13. Lymphoblastoid cell lines as a model to understand amyotrophic lateral sclerosis disease mechanisms

14. Encephalopathies with intracranial calcification in children: Clinical and genetic characterization

15. Assessment of interferon-related biomarkers in Aicardi-Gouti?¨res syndrome associated with mutations in TREX1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 and ADAR: a case-control study

17. Assessment of interferon-related biomarkers in Aicardi-Gouti\xe8res syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

18. SOD1 and DJ-1 Converge at Nrf2 Pathway: A Clue for Antioxidant Therapeutic Potential in Neurodegeneration

19. L’infiammazione nella malattia di Alzheimer: la genetica come fattore di rischio

20. From Transcriptome to Noncoding RNAs: Implications in ALS Mechanism

21. Extraction of Clinical Information from Clinical Reports: an Application to the Study of Medication Overuse Headaches in Italy

22. Young-onset CJD: age and disease phenotype in variant and sporadic forms

24. Hsp90‐mediated regulation of DYRK3 couples stress granule disassembly and growth via mTORC1 signaling

25. ALDOC- and ENO2- driven glucose metabolism sustains 3D tumor spheroids growth regardless of nutrient environmental conditions: a multi-omics analysis

26. Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

27. The spectrum of intermediate SCN8A-related epilepsy

28. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

29. Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

30. Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

31. Mitochondrial superclusters influence age of onset of Parkinson’s disease in a gender specific manner in the Cypriot population: A case-control study

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