Detalhe da pesquisa
1.
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
Am J Hum Genet
; 110(3): 531-547, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809767
2.
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.
Am J Hum Genet
; 109(8): 1534-1548, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35905737
3.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Am J Hum Genet
; 109(10): 1789-1813, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36152629
4.
Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia.
Hum Mol Genet
; 31(11): 1776-1787, 2022 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34908112
5.
Evaluating adherence, tolerability and safety of oral calcium citrate in elderly osteopenic subjects: a real-life non-interventional, prospective, multicenter study.
Aging Clin Exp Res
; 36(1): 38, 2024 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38345765
6.
Sexual Dysfunctions in Females with Parkinson's Disease: A Cross-Sectional Study with a Psycho-Endocrinological Perspective.
Medicina (Kaunas)
; 59(5)2023 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37241076
7.
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
Am J Hum Genet
; 104(4): 638-650, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905397
8.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Am J Hum Genet
; 111(3): 619, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458168
9.
Effects of COVID-19 in Endocrine Patients: A Cross-Sectional Study.
Medicina (Kaunas)
; 58(10)2022 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36295536
10.
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Hum Mol Genet
; 27(14): 2466-2476, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29701768
11.
Sexual Dysfunction in Parkinson Disease: A Multicenter Italian Cross-sectional Study on a Still Overlooked Problem.
J Sex Med
; 17(10): 1914-1925, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32665210
12.
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.
Hum Mol Genet
; 25(6): 1116-28, 2016 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26769677
13.
Denosumab Inhibition of RANKL and Insulin Resistance in Postmenopausal Women with Osteoporosis.
Calcif Tissue Int
; 98(2): 123-8, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26498169
14.
Effects of strontium ranelate on bone mass and bone turnover in women with thalassemia major-related osteoporosis.
J Bone Miner Metab
; 34(5): 540-6, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26204844
15.
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1).
Am J Physiol Regul Integr Comp Physiol
; 306(2): R124-37, 2014 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24305066
16.
Towards a Deeper Understanding: Utilizing Machine Learning to Investigate the Association between Obesity and Cognitive Decline-A Systematic Review.
J Clin Med
; 13(8)2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673581
17.
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Sci Rep
; 14(1): 570, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38177237
18.
Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.
Nat Commun
; 15(1): 3182, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609352
19.
Bone Health Status in Individuals with Amyotrophic Lateral Sclerosis: A Cross-Sectional Study on the Role of the Trabecular Bone Score and Its Implications in Neurorehabilitation.
Int J Environ Res Public Health
; 20(4)2023 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833619
20.
Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators.
bioRxiv
; 2023 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37293016