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List of works by Ilaria Martinelli

A novel p.N66T mutation in exon 3 of the SOD1 gene: report of two families of ALS patients with early cognitive impairment

scientific article published on 06 April 2020

Are basketball players more likely to develop Hirayama disease?

scientific article published on 21 March 2019

Brain MRI shows white matter sparing in Kennedy's disease and slow-progressing lower motor neuron disease

scientific article published on 28 March 2019

Communication and pragmatic breakdowns in amyotrophic lateral sclerosis patients.

scientific article published on 19 January 2016

Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis: Neurofilament Light Chain Levels in Definite Subtypes of Disease

scientific article published on 6 March 2017

G507D mutation in FUS gene causes familial amyotrophic lateral sclerosis with a specific genotype-phenotype correlation

scientific article published in 2022

Insights into the genetic epidemiology of SBMA: prevalence estimation and multiple founder haplotypes in the Veneto Italian region

article

Missense mutation in ATXN2 gene (c.2860C > T) in an amyotrophic lateral sclerosis patient with aggressive disease phenotype

scientific article published in 2022

New FIG4 gene mutations causing aggressive ALS.

scientific article published in March 2018

Safety and efficacy of edaravone compared to historical controls in patients with amyotrophic lateral sclerosis from North-Eastern Italy

scientific article published on 06 June 2019

The role of AR polyQ tract in male breast carcinoma: lesson from an SBMA case

scientific article published on 01 May 2017

Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study

scientific article published in Scientific Reports

Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.

scientific article published on 21 July 2016

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