Stefania Zappata

Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy

Christina Brahe, Stefania Zappata, Giovanni Neri et al. · The Lancet · 1995 · 119 citations

Life Sciences, Genetics, Molecular Genetics +12

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.

G van der Steege, P.M. Grootscholten, J. M. Cobben et al. · PubMed · 1996 · 93 citations

Life Sciences, Genetics, Molecular Genetics +10

Detection of the Survival Motor Neuron (SMN) Genes by FISH: Further Evidence for a Role for SMN2 in the Modulation of Disease Severity in SMA Patients

Tiziana Vitali, Vesna Sossi, Francesco Danilo Tiziano et al. · Human Molecular Genetics · 1999 · 66 citations

Medicine, Genetics, Molecular Genetics +17

SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

Anna Letizia Patrizi, Francesco Danilo Tiziano, Stefania Zappata et al. · European Journal of Human Genetics · 1999 · 49 citations

Life Sciences, Cell Biology, Molecular Biology +7

Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis

Christina Brahe, Isabella Velonà, Gerrit van der Steege et al. · Human Genetics · 1994 · 26 citations

Life Sciences, Genetics, Molecular Genetics +7