Rett syndrome: a wide clinical and autonomic picture. - Wikidata - awgldk - TriplyDB

Rett syndrome: a wide clinical and autonomic picture.

Rett syndrome: a wide clinical and autonomic picture.

http://www.wikidata.org/entity/Q37294375

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An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.Transcriptome level analysis in Rett syndrome using human samples from different tissues.

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Rett syndrome: a wide clinical and autonomic picture.

http://www.wikidata.org/entity/Q37294375

description

article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 29 September 2016

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

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name

Rett syndrome: a wide clinical and autonomic picture.

@en

Rett syndrome: a wide clinical and autonomic picture.

@nl

type

label

Rett syndrome: a wide clinical and autonomic picture.

@en

Rett syndrome: a wide clinical and autonomic picture.

@nl

prefLabel

Rett syndrome: a wide clinical and autonomic picture.

@en

Rett syndrome: a wide clinical and autonomic picture.

@nl

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S13023-016-0499-7

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Orphanet Journal of Rare Diseases

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Rett syndrome: a wide clinical and autonomic picture

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A Benincasa

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A Ferlini

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A M Romanelli

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D Tropea

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G Pini

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L Congiu

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M F Scusa

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M Zappella

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P Di Marco

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P Morescalchi

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P2860

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

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

Rett syndrome: revised diagnostic criteria and nomenclature

FOXG1 is responsible for the congenital variant of Rett syndrome

Management of epilepsy in patients with Rett syndrome: perspectives and considerations

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

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

Increased hepatic oxidative metabolism distinguishes the action of Peroxisome proliferator-activated receptor delta from Peroxisome proliferator-activated receptor gamma in the ob/ob mouse.

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

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scholarly article

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10.1186/S13023-016-0499-7

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Fabrizio Bianchi

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2016-09-29T00:00:00Z

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