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American Journal of Medical Genetics|May 8, 1999
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type IIP Mandich, E Bellone, E Di Maria, et al.European Journal of Neurology|April 7, 2020
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrumG Tasca, S Lattante, G Marangi, et al.Neuroscience Letters|April 18, 1998
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunitA M Schito, A Pizzuti, E Di Maria, et al.European Journal of Neurology|May 20, 2008
DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patientsC Vitale, R Gulli, P Ciotti, et al.European Journal of Human Genetics : EJHG|January 15, 1999
Exclusion of the SCN2B gene as candidate for CMT4BA Bolino, M Seri, F Caroli, et al.Human Molecular Genetics|January 1, 1994
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington diseaseA Novelletto, F Persichetti, G Sabbadini, et al.Journal of Neurology, Neurosurgery, and Psychiatry|September 21, 2004
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effectE Di Maria, R Gulli, P Balestra, et al.European Journal of Neurology|April 15, 2014
Contribution of copy number variations in CMT1X: a retrospective studyS Capponi, A Geroldi, I Pezzini, et al.Journal of Neurology|July 7, 2019
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotypeIlaria Callegari, C Gemelli, A Geroldi, et al.Molecular Genetics and Metabolism|June 25, 1999
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndromeA Pizzuti, G Novelli, A Ratti, et al.Pageof 6