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Concept

Rett syndrome

Related publications (7)

CDKL5 sculpts functional callosal connectivity to promote cognitive flexibility

Valerio Zerbi

Functional and structural connectivity alterations in short- and long-range projections have been reported across neurodevelopmental disorders (NDD). Interhemispheric callosal projection neurons (CPN) represent one of the major long-range projections in th ...

SPRINGERNATURE2023

MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2

Jose Vicente Sanchez Mut

Background: MeCP2-a chromatin-binding protein associated with Rett syndrome-has two main isoforms, MeCP2-E1 and MeCP2-E2, differing in a few N-terminal amino acid residues. Previous studies have shown brain region-specific expression of these isoforms whic ...

2019

Efficient inference for genetic association studies with multiple outcomes

Anthony Christopher Davison, Jörg Hager, Hélène Ruffieux

Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single clinical outcome on ma ...

Oxford University Press2017

An in vivo ultrahigh field 14.1 T (1) H-MRS study on 6-OHDA and α-synuclein-based rat models of Parkinson's disease: GABA as an early disease marker

Rolf Gruetter, Patrick Aebischer, Bernard Schneider, Mélanie Craveiro, Philippe Guillaume Coune, Meret Gaugler

The detection of Parkinson's disease (PD) in its preclinical stages prior to outright neurodegeneration is essential to the development of neuroprotective therapies and could reduce the number of misdiagnosed patients. However, early diagnosis is currently ...

Wiley-Blackwell2013

Short-term striatal gene expression responses to brain-derived neurotrophic factor are dependent on MEK and ERK activation

BACKGROUND: Brain-derived neurotrophic factor (BDNF) is believed to be an important regulator of striatal neuron survival, differentiation, and plasticity. Moreover, reduction of BDNF delivery to the striatum has been implicated in the pathophysiology of H ...

Public Library of Science2009

Effects of BDNF and other neuroprotectants on the neuropathology of Huntington's disease

Huntington's disease is an autosomal dominantly inherited neurodegenerative disorder characterized by progressive motor dysfunction, dementia, psychiatric symptoms, and weight loss, eventually leading to death. Postmortem analysis of the brains of HD patie ...

EPFL2009

The intense world syndrome – an alternative hypothesis for autism

Henry Markram, Kamila Markram, Tania Rinaldi

Autism is a devastating neurodevelopmental disorder with a polygenetic predisposition that seems to be triggered by multiple environmental factors during embryonic and/or early postnatal life. While significant advances have been made in identifying the ne ...

2007