Publications by authors named "Silvia Testi"

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RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy.
Matteo Tagliapietra, Davide Cardellini, Moreno Ferrarini, Silvia Testi, Sergio Ferrari

J Neurol· November 2021

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Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.
Luca Gentile, Massimo Russo, Gian Maria Fabrizi, Federica Taioli, Moreno Ferrarini, Silvia Testi

Neurol Sci· May 2020

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Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags.
Marta Campagnolo, Federica Taioli, Mario Cacciavillani, Marta Ruiz, Marco Luigetti, Silvia Testi

J Peripher Nerv Syst· March 2020

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High Diagnostic Accuracy of RT-QuIC Assay in a Prospective Study of Patients with Suspected sCJD.
Michele Fiorini, Giorgia Iselle, Daniela Perra, Matilde Bongianni, Stefano Capaldi, Silvia Testi

Int J Mol Sci· January 2020

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Toward the Authentication of European Sea Bass Origin through a Combination of Biometric Measurements and Multiple Analytical Techniques.
Federica Farabegoli, Maurizio Pirini, Magda Rotolo, Marina Silvi, Silvia Testi

J Agric Food Chem· July 2018

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TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Silvia Testi

Hum Mutat· March 2017

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Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples.
Matilde Bongianni, Christina Orrù, Bradley R Groveman, Luca Sacchetto, Michele Fiorini, Silvia Testi

JAMA Neurol· February 2017

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A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.
Silvia Testi, Silvio Peluso, Gian Maria Fabrizi, Antonella Antenora, Cinzia Valeria Russo

J Alzheimers Dis· September 2015

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Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis.
Silvia Testi, Stefano Tamburin, Giampietro Zanette, Gian Maria Fabrizi

J Alzheimers Dis· September 2015

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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
Julie van der Zee, Tim Van Langenhove, Gabor G Kovacs, Lubina Dillen, William Deschamps, Silvia Testi

Acta Neuropathol· September 2014

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A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Silvia Testi, Silvia Testi

Hum Mutat· February 2013

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Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of Presenilin 2 gene.
Silvia Testi, Gian Maria Fabrizi, Sara Pompanin, Annachiara Cagnin

J Alzheimers Dis· December 2012

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Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.
Claudia Stancanelli, Federica Taioli, Silvia Testi, Gian Maria Fabrizi, Maria Grazia Arena

J Peripher Nerv Syst· December 2012

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WEFTA interlaboratory comparison on total lipid determination in fishery products using the Smedes method.
Horst Karl, Jörg Oehlenschläger, Karen Bekaert, Jean-Pascal Bergé, Asli Cadun, Silvia Testi

J AOAC Int· July 2012

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Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.
Massimiliano Filosto, Mauro Scarpelli, Paola Tonin, Silvia Testi, Maria Sofia Cotelli

J Inherit Metab Dis· December 2011

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Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.
Federica Taioli, Ilaria Cabrini, Tiziana Cavallaro, Alessandro Simonati, Silvia Testi

J Peripher Nerv Syst· March 2011

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Metabolomics as a powerful tool for molecular quality assessment of the fish Sparus aurata.
Gianfranco Picone, Søren Balling Engelsen, Francesco Savorani, Silvia Testi, Anna Badiani

Nutrients· February 2011

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