(Q42528390)

1 November 2017

title

Rett syndrome: investigation of nine patients, including PET scan (English)

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1 November 2017

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Henry G Dunn

1

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1 November 2017

A Jon Stoessl

2

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1 November 2017

Helena H Ho

3

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1 November 2017

Patrick M MacLeod

4

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1 November 2017

Kenneth J Poskitt

5

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1 November 2017

Doris J Doudet

6

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1 November 2017

Michael Schulzer

7

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1 November 2017

Derek Blackstock

8

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1 November 2017

Teresa Dobko

9

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1 November 2017

Ben Koop

10

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1 November 2017

Giovana V de Amorim

11

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1 November 2017

publication date

1 November 2002

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Canadian Journal of Neurological Sciences

1 November 2017

published in

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1 November 2017

volume

29

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1 November 2017

issue

4

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1 November 2017

page(s)

345-357

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Altered neurochemical markers in Rett's syndrome.

1 November 2017

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MECP2 mutations account for most cases of typical forms of Rett syndrome.

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Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

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Preliminary evidence for neurodegenerative changes in the substantia nigra of Rett syndrome

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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

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7 January 2021

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome

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7 January 2021

MRI-PET registration with automated algorithm

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7 January 2021

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7 January 2021

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A population-based approach to the investigation of osteopenia in Rett syndrome

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Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Clinical and [18F] dopa PET findings in early Parkinson's disease

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7 January 2021

Possible mechanisms in infants for selective basal ganglia damage from asphyxia, kernicterus, or mitochondrial encephalopathies.

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7 January 2021

A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

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7 January 2021

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

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7 January 2021

Importance of Rett syndrome in child neurology

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7 January 2021

Alterations in dopaminergic function in Rett syndrome.

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7 January 2021

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7 January 2021

Observations on hand movements in Rett syndrome: a pilot study

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

MECP2 mutation in male patients with non-specific X-linked mental retardation.

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7 January 2021

Mutation screening in Rett syndrome patients.

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7 January 2021

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome

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7 January 2021

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome

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7 January 2021

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7 January 2021

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

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7 January 2021

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7 January 2021

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

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7 January 2021

Gross motor disability and head growth in Rett syndrome--a preliminary report

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7 January 2021

10.1017/S0317167100002213

Identifiers

DOI

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