Tanulmányok a Rett-szindrómáról
2019
Rett, Andreas
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...
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
Chapleau, C. A. at al
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