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Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

✍ Scribed by Teresa Temudo; Mónica Santos; Elisabete Ramos; Karin Dias; José Pedro Vieira; Ana Moreira; Eulália Calado; Inês Carrilho; Guiomar Oliveira; António Levy; Clara Barbot; Maria Fonseca; Alexandra Cabral; Pedro Cabral; José Monteiro; Luís Borges; Roseli Gomes; Graça Mira; Susana Aires Pereira; Manuela Santos; Anabela Fernandes; Jorg T. Epplen; Jorge Sequeiros; Patrícia Maciel


Book ID
113498872
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
234 KB
Volume
33
Category
Article
ISSN
0387-7604

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Movement disorders in Rett syndrome: An
✍ Teresa Temudo; Elisabete Ramos; Karin Dias; Clara Barbot; Jose P. Vieira; Ana Mo 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 142 KB 👁 1 views

## Abstract Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives such as stereotypies, tremor, chorea, myoclonus, ataxia, dystonia, and r