Literature DB >> 16225825

Rett syndrome: long-term clinical follow-up experiences over four decades.

Bengt Hagberg1.   

Abstract

Long-term clinical profiles of female patients with classic Rett syndrome are presented and exemplified by three cases, as experienced over four decades. Emphasized is the frequently surprisingly well-preserved eye contact and primitive memory, in contrast to a premature neuromuscular aging and often advanced peripheral atrophy, usually combined with dystonic-rigid signs that are predominantly right sided.

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Year:  2005        PMID: 16225825     DOI: 10.1177/08830738050200090401

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  19 in total

Review 1.  Complexities of Rett syndrome and MeCP2.

Authors:  Rodney C Samaco; Jeffrey L Neul
Journal:  J Neurosci       Date:  2011-06-01       Impact factor: 6.167

2.  The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

Authors:  Daniel C Tarquinio; Wei Hou; Jeffrey L Neul; Walter E Kaufmann; Daniel G Glaze; Kathleen J Motil; Steven A Skinner; Hye-Seung Lee; Alan K Percy
Journal:  Pediatr Neurol       Date:  2015-06-26       Impact factor: 3.372

3.  Early motor phenotype detection in a female mouse model of Rett syndrome is improved by cross-fostering.

Authors:  Annie Vogel Ciernia; Michael C Pride; Blythe Durbin-Johnson; Adriana Noronha; Alene Chang; Dag H Yasui; Jacqueline N Crawley; Janine M LaSalle
Journal:  Hum Mol Genet       Date:  2017-05-15       Impact factor: 6.150

Review 4.  Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.

Authors:  Huda Y Zoghbi; Mark F Bear
Journal:  Cold Spring Harb Perspect Biol       Date:  2012-03-01       Impact factor: 10.005

5.  The trajectories of sleep disturbances in Rett syndrome.

Authors:  Kingsley Wong; Helen Leonard; Peter Jacoby; Carolyn Ellaway; Jenny Downs
Journal:  J Sleep Res       Date:  2014-09-14       Impact factor: 3.981

Review 6.  Breathing challenges in Rett syndrome: lessons learned from humans and animal models.

Authors:  Jan-Marino Ramirez; Christopher Scott Ward; Jeffrey Lorenz Neul
Journal:  Respir Physiol Neurobiol       Date:  2013-06-28       Impact factor: 1.931

Review 7.  MECP2 disorders: from the clinic to mice and back.

Authors:  Laura Marie Lombardi; Steven Andrew Baker; Huda Yahya Zoghbi
Journal:  J Clin Invest       Date:  2015-08-03       Impact factor: 14.808

Review 8.  Sex differences in Mecp2-mutant Rett syndrome model mice and the impact of cellular mosaicism in phenotype development.

Authors:  Mayara C Ribeiro; Jessica L MacDonald
Journal:  Brain Res       Date:  2020-01-02       Impact factor: 3.252

9.  Gross motor profile in rett syndrome as determined by video analysis.

Authors:  J A Downs; A Bebbington; P Jacoby; M E Msall; O McIlroy; S Fyfe; N Bahi-Buisson; W E Kaufmann; H Leonard
Journal:  Neuropediatrics       Date:  2009-01-22       Impact factor: 1.947

10.  Brain metabolism in Rett syndrome: age, clinical, and genotype correlations.

Authors:  Alena Horská; Luciano Farage; Genila Bibat; Lídia M Nagae; Walter E Kaufmann; Peter B Barker; SakkuBai Naidu
Journal:  Ann Neurol       Date:  2009-01       Impact factor: 10.422

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