Is the Early Development of Girls with Rett Disorder Really Normal?

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 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

An early marker for neurological deficits after perinatal brain lesions

H.F.R. Prechtl, Christa Einspieler, Giovanni Cioni et al. · The Lancet · 1997 · 728 citations · Full text

Medicine, Neurology, Neuroscience +14

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

Mona D. Shahbazian · Human Molecular Genetics · 2002 · 545 citations · Full text

Life Sciences, Developmental Biology, Neuroscience +13

Clinical profile of Angelman syndrome at different ages

Inge Buntinx, Raoul C. M. Hennekam, Oebele F. Brouwer et al. · American Journal of Medical Genetics · 1995 · 148 citations

Medicine, Neurology, Pediatrics +10