Maria Piane

Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants

Shlomit Gilad, Luciana Chessa, Rami Khosravi et al. · The American Journal of Human Genetics · 1998 · 256 citations · Full text

Ataxia with oculomotor apraxia type 2

Chiara Criscuolo, Luchino Chessa, Silvia Di Giandomenico et al. · Neurology · 2006 · 121 citations

The novel human gene aprataxin is directly involved in DNA single-strand-break repair

Pasquale Mosesso, Maria Piane, F. Palitti et al. · Cellular and Molecular Life Sciences · 2005 · 82 citations · Full text

Genome Instability, Dna Damage, Dna Single-strand-break Repair +9

Role of senataxin in DNA damage and telomeric stability

Andrea De Amicis, Maria Piane, Francesca Ferrari et al. · DNA repair · 2010 · 42 citations

Genome Instability, Dna Damage, Molecular Biology +2

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the <i>PCNT</i> gene

Maria Piane, Matteo Della Monica, Gianluca Piatelli et al. · American Journal of Medical Genetics Part A · 2009 · 32 citations