Search

Your search keyword '"Gellera C"' showing total 498 results

Search Constraints

Start Over You searched for: Author "Gellera C" Remove constraint Author: "Gellera C"
498 results on '"Gellera C"'

Search Results

2. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1)

3. A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: 'Precision medicine' approach with fluoxetine

4. A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet

5. VP.52 Identification of a novel cytokine profile in serum and CSF of pediatric and adult SMA patients and its modulation upon nusinersen treatment

6. Dysregulation of muscle-specific micrornas as common pathogenic feature associated with muscle atrophy in als, sma and sbma: Evidence from animal models and human patients

7. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

8. Hypomyelinating leukodystrophies in adults: Clinical and genetic features

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

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

12. Molecular genetics of niemann–pick type c disease in italy: An update on 105 patients and description of 18 NPC1 novel variants

13. Circulating myomirs as potential biomarkers to monitor response to nusinersen in pediatric SMA patients

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

15. Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease

16. Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages

17. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)

18. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1)

21. Progressive epileptic encephalopathy associated with a novel HCN2 mutation

22. Progressive Myoclonus Epilepsies Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases

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

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

25. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

26. Genetic epidemiology of ALS in Italy: OS2211

28. Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy

34. A new case report of severe mucopolysaccharidosis type VII: Diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy 11 Medical and Health Sciences 1114 Paediatrics and Reproductive Medicine

37. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain: Abstracts of Symposia and free communications

39. HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature

40. Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes

41. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

42. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

45. A loss-of-function HCN4 mutation associated with familial benign myoclonic epilepsy in infancy causes increased neuronal excitability

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

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

48. HCN1 mutation spectrum: From neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

49. A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability

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

Catalog

Books, media, physical & digital resources