Gabriella Restagno

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton, Elisa Majounie, Adrian J. Waite et al. · Neuron · 2011 · 4.4K citations · Full text

Chromatin, Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis +8

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Elisa Majounie, Alan E. Renton, Kin Y. Mok et al. · The Lancet Neurology · 2012 · 1.2K citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Dementia +7

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Núria Morral, Jaume Bertranpetit, Xavier Estivill et al. · Nature Genetics · 1994 · 343 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +11

<i>SQSTM1</i> mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Elisa Rubino, Innocenzo Rainero, Adriano Chiò et al. · Neurology · 2012 · 279 citations · Full text

Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy

Anna Montuschi, Barbara Iazzolino, Andrea Calvo et al. · Journal of Neurology Neurosurgery & Psychiatry · 2014 · 274 citations · Full text