Publications by authors named "Teresa Sprovieri"

25Publications

Alternative Splicing of ALS Genes: Misregulation and Potential Therapies.

Cell Mol Neurobiol 2020 Jan 5;40(1):1-14. Epub 2019 Aug 5.

Institute for Biomedical Research and Innovation, National Research Council, Catania, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10571-019-00717-0DOI Listing
January 2020

A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy.

Int J Mol Sci 2019 Jul 30;20(15). Epub 2019 Jul 30.

Institute for Biomedical Research and Innovation, National Research Council, Contrada Burga, Piano Lago, 87050 Mangone (CS) and Via Paolo Gaifami 18, 95126 Catania, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms20153717DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6695675PMC
July 2019

A novel S379A TARDBP mutation associated to late-onset sporadic ALS.

Neurol Sci 2019 Oct 4;40(10):2111-2118. Epub 2019 Jun 4.

Department of Pharmacy and Health and Nutritional Sciences, University of Calabria, Rende, CS, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-03943-yDOI Listing
October 2019

ALS and CHARGE syndrome: a clinical and genetic study.

Acta Neurol Belg 2018 Dec 13;118(4):629-635. Epub 2018 Oct 13.

Institute of Neurological Sciences (ISN), National Research Council, C.da Burga, Mangone, CS, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s13760-018-1029-2
Publisher Site
http://dx.doi.org/10.1007/s13760-018-1029-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244742PMC
December 2018

Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?

Neurol Sci 2019 01 14;40(1):207-208. Epub 2018 Sep 14.

Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Mangone, CS, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-018-3567-zDOI Listing
January 2019

Proteomic profiling of cerebrospinal fluid in Creutzfeldt-Jakob disease.

Expert Rev Proteomics 2010 Dec;7(6):907-17

Institute of Neurological Sciences, National Research Council, Contrada Burga, Mangone, Cosenza, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1586/epr.10.80DOI Listing
December 2010

Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria.

Neurol Sci 2011 Feb 22;32(1):95-9. Epub 2010 Sep 22.

Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-010-0416-0DOI Listing
February 2011

Quantification of thymosin beta(4) in human cerebrospinal fluid using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

Anal Biochem 2010 Jul 25;402(1):13-9. Epub 2010 Mar 25.

Institute of Neurological Sciences, National Research Council, Mangone 87050, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ab.2010.03.029DOI Listing
July 2010

Gene symbol: MECP2. Disease: Rett syndrome.

Hum Genet 2008 Jun;123(5):555

Institute of Neurological Sciences, CNR, Localita` Burga, nd, 87050, Mangone (CS), Italy.

View Article

Download full-text PDF

Source
June 2008

Gene symbol: NOTCH3. Disease: CADASIL.

Hum Genet 2008 Jun;123(5):555

Institute of Neurological Sciences, CNR, Localita` Burga, nd, 87050, Mangone (CS), Italy.

View Article

Download full-text PDF

Source
June 2008

Gene symbol: NOTCH3. Disease: CADASIL.

Hum Genet 2008 Jun;123(5):554

Institute of Neurological Sciences, CNR, Località Burga, nd, 87050, Mangone (CS), Italy.

View Article

Download full-text PDF

Source
June 2008

Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy.

Neurosci Lett 2007 May 1;418(1):1-3. Epub 2007 Mar 1.

Institute of Neurological Sciences, National Research Council, 87050 Mangone, Cosenza, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neulet.2007.02.059DOI Listing
May 2007