G.M.S. Mancini

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

Ravinesh A. Kumar, Daniela T. Pilz, Timothy D. Babatz et al. · Human Molecular Genetics · 2010 · 199 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Genotype–phenotype correlation of contiguous gene deletions of <i><scp>SLC6A8</scp>, <scp>BCAP31</scp></i> and <scp><i>ABCD1</i></scp>

Jiddeke M. van de Kamp, Abdellatif Errami, M. Howidi et al. · Clinical Genetics · 2014 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15