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MARINOU K

Last name: MARINOU K

2012 (v1)

Publication

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C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.

Sabatelli M Conforti FL Zollino M

It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1523 from...

Uploaded on: March 31, 2023
2013 (v1)

Publication

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Randomized double-blind placebo-controlled trial of acetyl-L-carnitine for ALS

Beghi E Pupillo E Bonito V

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Uploaded on: March 27, 2023
2012 (v1)

Publication

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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Chiò A1 Borghero G Restagno G

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ~40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases...

Uploaded on: March 27, 2023