Ube3a mRNA and protein expression are not decreased in Mecp2 mutant mice

Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy

Shikshya Shrestha, Steven M. Offer · Medical Epigenetics · 2016 · 9K citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

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

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

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

Bengt Hagberg, Jean Aicardi, Karin Ziliotto Dias et al. · Annals of Neurology · 1983 · 1.5K citations

Medicine, Neurology, Pediatrics +15

UBE3A/E6-AP mutations cause Angelman syndrome

Tatsuya Kishino, Marc Lalande, Joseph Wagstaff · Nature Genetics · 1997 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +15