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| 1 | Urolithin A causes p21 up regulation in prostate cancer cells 显示文摘 | Claudia S G Carlos J C Maria I P | 2015 | Eur J Nutr2015，55，3： | 1 |
| 2 | Myocardi- al reperfusion injury: Reactive oxygen species vs NHE-1 reactiva- tion 显示文摘 | CAROLINA D G JULIANA C F CLAUDIA I C | 2011 | Cell Physiol Biochem2011，27，1： | 1 |
| 3 | A comparative analysis of wolf diet in three different Italian ecosystems 显示文摘 | Claudia C Bertelli I | 2004 | Mammalian Biology2004，69，1： | 1 |
| 4 | Solubilization of tropicamide by hydroxypropyl-β-cyclodextrin and water-soluble polymers: in vitro/in vivo studies显示文摘 | Brunella C Claudia C Maria I | 2001 | Int J Pharm2001，213，： | 1 |
| 5 | Parenteral administration of RF 8-2/6/7 rotavirus-like particles in a one-dose regimen induce protective immunity in mice显示文摘 | Claudia I Jorma H Annie C | 2008 | Vaccine2008，26，： | 1 |
| 6 | Mild cognitive impairment subtypes and vascular dementia in community-dwelling elderly people : a 3-year follow-up study显示文摘 | Mariella Zanetti M D Claudia Ballabio M I) Psyd C A | 2006 | Journal of the American Geriatrics Society2006，54，4： | 1 |
| 7 | Chronic NHE-I blockade induces an antiapoptotic effect in the hypertrophied heart显示文摘 | CAROLINA D G CLAUDIA I C ENRIQUE L P | 2009 | J Appl Physiol2009，106，4： | 1 |
| 8 | Pentatronol from Alchornea sidifolia(Euphorbiaceae)显示文摘 | Barbo F E Meda C I Claudia M Young M Cordeiro I Blatt C T T | 2002 | Biochemical Systematic and Ecology2002，30，6： | 1 |
| 9 | Intranuclear inclusions in a fragile X mosaic male显示文摘Lack of the fragile X mental retardation protein leads to Fragile X syndrome(FXS)while increased levels of FMR1 mRNA,as those observed in premutation carriers can lead to Fragile X-associated tremor ataxia syndrome(FXTAS).Until recently,FXTAS had been observed only in carriers of an FMR1 premutation(55–200 CGG repeats);however the disorder has now been described in individuals carriers of an intermediate allele(45–54 CGG repeats)as well as in a subject with a full mutation with mosaicism.Here,we report on molecular and clinical data of a male FMR1 mosaic individual with full and premutation alleles.Molecular analysis of FMR1 and FMRP expression in this subject is consistent with a FXS phenotype.We observed reduced expression of FMRP in both peripheral blood and brain leading to the FXS diagnosis.In addition,a dramatic 90%depletion of both FMR1 mRNA and FMRP levels was observed in the blood,as normally observed in FXS cases,and an even greater depletion in the brain.A clinical report of this patient,at age 71,described neurodegenerative signs of parkinsonism that were likely,in retrospect,part of a FXTAS scenario as post-mortem examination shows the presence of intranuclear inclusions,the hallmark pathology of FXTAS.The findings presented in this study indicate co-morbidity for both FXS and FXTAS in this individual carrying both full and premutation FMR1 alleles.In addition,based on symptoms and pathological and molecular evidence,this report suggests the need to redefine the diagnostic criteria of FXTAS. | Dalyir I Pretto Michael R Hunsaker Christopher L Cunningham Claudia M Greco Randi J Hagerman Stephen C Noctor Deborah A Hall Paul J Hagerman Flora Tassone | 2013 | Translational Neurodegeneration2013，2，1： | 0 |
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