Monogenic causes of X-linked mental retardation

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics · 1999 · 5K citations

Life Sciences, Genetics, Molecular Genetics +9

Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A

Han G. Brunner, Marcel Nelen, Xandra O. Breakefield et al. · Science · 1993 · 1.6K citations

Life Sciences, Genetics, Molecular Genetics +17

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

Jacky Guy, Brian Hendrich, Megan C. Holmes et al. · Nature Genetics · 2001 · 1.6K citations

Life Sciences, Genetics, Neuroscience +14

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

Chris D. Vulpe, Barbara Levinson, Susan Whitney et al. · Nature Genetics · 1993 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +8

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

Richard Z. Chen, Schahram Akbarian, Matthew Tudor et al. · Nature Genetics · 2001 · 1.3K citations

Life Sciences, Neurobiology, Neuroscience +14