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Cytogenetic and Genome Research|December 15, 2015
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/DuplicationsEleonora Di Gregorio, Giorgia Gai, Giovanni Botta, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 3, 2012
ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutationsAdriano Chiò, Gabriella Restagno, Maura Brunetti, et al.The Lancet. Neurology|March 17, 2007
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of dataJennifer C Schymick, Sonja W Scholz, Hon-Chung Fung, et al.European Journal of Human Genetics : EJHG|April 25, 2013
Homozygosity analysis in amyotrophic lateral sclerosisKin Mok, Hannu Laaksovirta, Pentti J Tienari, et al.Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|August 10, 2012
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre studyMario Sabatelli, Serena Lattante, Amelia Conte, et al.Archives of Neurology|January 12, 2011
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP geneAdriano Chiò, Giuseppe Borghero, Maura Pugliatti, et al.Molecular Cytogenetics|December 2, 2014
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGHEleonora Di Gregorio, Elisa Savin, Elisa Biamino, et al.Neurobiology of Aging|July 26, 2015
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestryGiuseppe Borghero, Maura Pugliatti, Francesco Marrosu, et al.Journal of Neurology|August 16, 2015
C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian populationAntonino Cannas, Paolo Solla, Giuseppe Borghero, et al.Neurobiology of Aging|August 16, 2014
Genetic architecture of ALS in SardiniaGiuseppe Borghero, Maura Pugliatti, Francesco Marrosu, et al.Pageof 7