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List of works by Silvia Testi

A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia

scientific article

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

scientific article published on 4 January 2013

Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of Presenilin 2 gene

scientific article published in January 2012

Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis

scientific article published on January 2015

Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.

scientific article

Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

scientific article published on 3 June 2012

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

scientific article published on 19 April 2011

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene

scientific article published in December 2012

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