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2. Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat

3. Evaluating adherence, tolerability and safety of oral calcium citrate in elderly osteopenic subjects: a real-life non-interventional, prospective, multicenter study

6. Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia

7. Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

10. Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

12. A deep learning approach to identify gene targets of a therapeutic for human splicing disorders

14. Evaluating adherence, tolerability and safety of oral calcium citrate in elderly osteopenic subjects: a real-life non-interventional, prospective, multicenter study

15. Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

18. Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators

20. Development of a novel oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia

26. Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage

27. Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage

29. Sexual Dysfunctions in Females with Parkinson's Disease: A Cross-Sectional Study with a Psycho-Endocrinological Perspective.

30. Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

32. Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia

34. The impact of the SARS-COV2 infection on the disorder of consciousness rehabilitation unit

36. Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage

39. A deep learning approach to identify new gene targets of a novel therapeutic for human splicing disorders

40. Supplemental_Material_for_Devel_Screen_Platf_to_ident_small_molecules_modyf_splicing_in_FD_by_Salani_et_al – Supplemental material for Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia

42. ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia

43. EFFECTS OF DENOSUMAB ON QUANTITATIVE ULTRASOUND AND DUAL-ENERGY X-RAY ABSORPTIOMETRY MEASUREMENTS IN AROMATASE INHIBITOR-TREATED BREAST CANCER WOMEN

44. Phalangeal quantitative ultrasound detects changes of bone status in aromatase inhibitor-treated breast cancer women

46. Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model

47. Vitamin D modulates bmd gain in postmenopausal women treated with strontium ranelate

49. Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia

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