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Lista de obras de Silvia Testi

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

artículo científico publicado en 2011

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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