M. Chiara Manzini

The stop signal revised: immature cerebellar granule neurons in the external germinal layer arrest pontine mossy fiber growth.

Differential effects of AMPA receptor activation on survival and neurite integrity during neuronal development.

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

Developmental and degenerative features in a complicated spastic paraplegia.

What disorders of cortical development tell us about the cortex: one plus one does not always make two.

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.