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Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome

Neurology, 2008-04, Vol.70 (16), p.1313

2008

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Epilepsy and the natural history of Rett syndrome

Neurology, 2010-03, Vol.74 (11), p.909

2010

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Clinical severity and quality of life in children and adolescents with Rett syndrome

Neurology, 2011-11, Vol.77 (20), p.1812

2011

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Cerebral folate deficiency with developmental delay, autism, and response to folinic acid

Neurology, 2005-03, Vol.64 (6), p.1088

2005

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Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage

Neuropsychiatric disease and treatment, 2022-01, Vol.18, p.2813-2835

2022

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MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan

The Journal of neuroscience, 2011-07, Vol.31 (28), p.10359-10370

2011

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Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records

Journal of intellectual disability research, 2024-05, Vol.68 (5), p.491-511

2024

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P.045 Trofinetide for the treatment of Rett syndrome: long-term safety and efficacy results from the open-label LILAC and LILAC-2 studies

Canadian journal of neurological sciences, 2024-06, Vol.51 (s1), p.S27-S28

2024

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Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome

Neurology, 2005-06, Vol.64 (12), p.2151

2005

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The Xenopus Dorsalizing Factor noggin Ventralizes Drosophila Embryos by Preventing DPP from Activating Its Receptor

Cell, 1996-08, Vol.86 (4), p.607-617

1996

Volltextzugriff (PDF)

Spatially Restricted Activation of the SAX Receptor by SCW Modulates DPP/TKV Signaling in Drosophila Dorsal–Ventral Patterning

Cell, 1998-11, Vol.95 (4), p.483-494

1998

Volltextzugriff (PDF)

Growth failure and outcome in Rett syndrome: specific growth references

Neurology, 2012-10, Vol.79 (16), p.1653

2012

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A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

Human molecular genetics, 2008-06, Vol.17 (12), p.1718-1727

2008

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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Genetics in medicine, 2006-12, Vol.8 (12), p.784-792

2006

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Learning about neurodiversity from parents – Auditory gestalt perception of prelinguistic vocalisations

Research in developmental disabilities, 2023-07, Vol.138, p.104515-104515, Article 104515

2023

Volltextzugriff (PDF)

Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors

Pediatric neurology, 2016-05, Vol.58, p.67-74

2016

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Rett Syndrome: A Prototypical Neurodevelopmental Disorder

The Neuroscientist (Baltimore, Md.), 2004-04, Vol.10 (2), p.118-128

2004

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Neurologic complications associated with influenza A in children during the 2003-2004 influenza season in Houston, Texas

Pediatrics (Evanston), 2004-11, Vol.114 (5), p.e626

2004

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A Norrin/Wnt surrogate antibody stimulates endothelial cell barrier function and rescues retinopathy

EMBO molecular medicine, 2021-07, Vol.13 (7), p.e13977-n/a

2021

Volltextzugriff (PDF)

Rett syndrome: Revised diagnostic criteria and nomenclature

Annals of neurology, 2010-12, Vol.68 (6), p.944-950

2010

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A tug of war between DCC and ROBO1 signaling during commissural axon guidance

Cell reports (Cambridge), 2023-05, Vol.42 (5), p.112455-112455, Article 112455

2023

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Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

Proceedings of the National Academy of Sciences - PNAS, 2009-12, Vol.106 (51), p.21966-21971

2009

Volltextzugriff (PDF)

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

Journal of medical genetics, 2014-03, Vol.51 (3), p.152-158

2014

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The course of awake breathing disturbances across the lifespan in Rett syndrome

Brain & development (Tokyo. 1979), 2018-08, Vol.40 (7), p.515-529

2018

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Potentiation of the muscarinic acetylcholine receptor 1 modulates neurophysiological features in a mouse model of Rett syndrome

Neurotherapeutics, 2024-07, Vol.21 (4), p.e00384, Article e00384

2024

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Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome

Epilepsy and the natural history of Rett syndrome

Clinical severity and quality of life in children and adolescents with Rett syndrome

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid

Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage

MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan

Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records

P.045 Trofinetide for the treatment of Rett syndrome: long-term safety and efficacy results from the open-label LILAC and LILAC-2 studies

Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome

The Xenopus Dorsalizing Factor noggin Ventralizes Drosophila Embryos by Preventing DPP from Activating Its Receptor

Spatially Restricted Activation of the SAX Receptor by SCW Modulates DPP/TKV Signaling in Drosophila Dorsal–Ventral Patterning

Growth failure and outcome in Rett syndrome: specific growth references

A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Learning about neurodiversity from parents – Auditory gestalt perception of prelinguistic vocalisations

Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors

Rett Syndrome: A Prototypical Neurodevelopmental Disorder

Neurologic complications associated with influenza A in children during the 2003-2004 influenza season in Houston, Texas

A Norrin/Wnt surrogate antibody stimulates endothelial cell barrier function and rescues retinopathy

Rett syndrome: Revised diagnostic criteria and nomenclature

A tug of war between DCC and ROBO1 signaling during commissural axon guidance

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

The course of awake breathing disturbances across the lifespan in Rett syndrome

Potentiation of the muscarinic acetylcholine receptor 1 modulates neurophysiological features in a mouse model of Rett syndrome

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