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3. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

4. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

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

10. The clinical spectrum of CASQ1-related myopathy

11. Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.

12. Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice

13. TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

14. Preliminary design and validation of the '6-K-scale' for bulbar symptoms evaluation in SBMA

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

16. Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

17. Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

21. Brain White Matter MRI Differentiates Kennedy’s Disease from Other Motor Neuron Disease Clinical Phenotypes (P4.4-011)

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

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

25. Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients

26. No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype

27. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

28. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

29. Structural Brain MRI Abnormalities in Kennedy's Disease (P5.015)

32. The clinical spectrum of -related myopathy.

33. Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

34. The wide clinical phenotype of Kennedy’s disease. (P7.055)

42. Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

43. Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

46. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

48. TP53 DNA binding domain mutational status and rituximabbased treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification.

49. Non-Motor Symptoms in Primary Familial Brain Calcification.

50. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

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