Silvia Testi
Verona, 37134, Italy
Last Updated: 09/26/2026
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Found 12 publications
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy.
Journal: Journal of neurology
Published: March 18, 2021
High Diagnostic Accuracy of RT-QuIC Assay in a Prospective Study of Patients with Suspected sCJD.
Journal: International journal of molecular sciences
Published: December 24, 2019
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags.
Journal: Journal of the peripheral nervous system : JPNS
Published: November 12, 2019
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: October 08, 2019
Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples.
Journal: JAMA neurology
Published: December 13, 2016
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Journal: Human mutation
Published: October 10, 2016
Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis.
Journal: Journal of Alzheimer's disease : JAD
Published: September 04, 2014
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.
Journal: Journal of Alzheimer's disease : JAD
Published: April 11, 2014
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
Journal: Acta neuropathologica
Published: February 10, 2014
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.
Journal: Journal of the peripheral nervous system : JPNS
Published: January 03, 2013
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
Journal: Human mutation
Published: June 29, 2012
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of Presenilin 2 gene.
Journal: Journal of Alzheimer's disease : JAD
Published: April 26, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026