Tanulmányok a Rett-szindrómáról
2019
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On a remarkable syndrome of cerebral atrophy associated with hyperammonaemia in childhood
2010
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Rett syndrome diagnostic criteria: Lessons from the Natural History Study
2004
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Rett Syndrome: A Prototypical Neurodevelopmental Disorder
Terápiák, fejlesztések
A Rett-szindróma kutatása
2001
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A mouse MECP2-null mutation causes neurological symptoms...
1998
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
1999
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
2006
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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
2013
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Evaluation of Current Pharmacological Treatment Options in the Management of Rett Syndrome
2013
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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
2001
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A mouse MECP2-null mutation causes neurological symptoms that mimic Rett syndrome.
1983
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A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls