Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.

doi:10.1093/hmg/ddt460

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Article

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.

Human molecular genetics - 1 Feb 2014

Dols-Icardo Oriol, García-Redondo Alberto, Rojas-García Ricard, Sánchez-Valle Raquel, Noguera Aina, Gómez-Tortosa Estrella, Pastor Pau, Hernández Isabel, Esteban-Pérez Jesús, Suárez-Calvet Marc, Antón-Aguirre Sofía, Amer Guillermo, Ortega-Cubero Sara, Blesa Rafael, Fortea Juan, Alcolea Daniel, Capdevila Aura, Antonell Anna, Lladó Albert, Muñoz-Blanco José Luís, Mora Jesús S, Galán-Dávila Lucía, Rodríguez De Rivera Francisco Javier, Lleó Alberto, Clarimón Jordi

Abstract excerpt

Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The difficulty of developing a precise method to determine the expansion size has hampered the study of possible correlations between the hexanucleotide repeat number and clinical phenotype. Here we characterize, through a new non-radioactive...

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PMID: 24057670
DOI: 10.1093/hmg/ddt460

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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