Tanulmányok a Rett-szindrómáról

2019

Rett, Andreas

On a remarkable syndrome of cerebral atrophy associated with hyperammonaemia in childhood

2010

Percy, Alan K.

Rett syndrome diagnostic criteria: Lessons from the Natural History Study

2004

Neul, Jeffrey L. – Zoghbi, Huda Y.

Rett Syndrome: A Prototypical Neurodevelopmental Disorder 

Terápiák, fejlesztések

2007

Lotan, Meir

Alternative Therapeutic Intervention for Individuals with Rett Syndrome

A Rett-szindróma kutatása

2019

Rett Syndrome Research Trust

The Current State of Rett Research

2001

Guy, J. – Hendrich, B. at al.

A mouse MECP2-null mutation causes neurological symptoms...

1998

Amir, R. E. at al

hi

2008

Ariani, F. at al

FOXG1 is responsible for the congenital variant of Rett syndrome.

2008

Bahi-Buisson, N. at al

Key clinical features to identify girls with CDKL5 mutations

1999

Amir, R. E. at al

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

2006

Archer, H. L. at al

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

2008

Ariani, F. at al

FOXG1 is responsible for the congenital variant of Rett syndrome.

2008

Bahi-Buisson, N. at al

Key clinical features to identify girls with CDKL5 mutations.

2013

Chapleau, C. A. at al

Evaluation of Current Pharmacological Treatment Options in the Management of Rett Syndrome

2013

Fehr, S. at al

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

2001

Guy, J. at al

A mouse MECP2-null mutation causes neurological symptoms that mimic Rett syndrome.

2007

Guy, J. at al

Reversal of neurological defects in a mouse model of Rett syndrome.

1983

Hagberg, B. at al

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls

1985

Hagberg, B. at al

Rett syndrome