Literature DB >> 4061772

Rett syndrome: criteria for inclusion and exclusion.

B Hagberg, F Goutières, F Hanefeld, A Rett, J Wilson.   

Abstract

In the absence of discriminatory laboratory tests for accurate diagnosis of the Rett syndrome, the authors have tried to give as precise clinical criteria as possible for use particularly for research purposes.

Entities:  

Mesh：

Year:  1985        PMID： 4061772     DOI： 10.1016/s0387-7604(85)80048-6

Source DB:  PubMed          Journal:  Brain Dev        ISSN： 0387-7604            Impact factor:   1.961


  43 in total

1.  MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

Authors:  R Trappe; F Laccone; J Cobilanschi; M Meins; P Huppke; F Hanefeld; W Engel
Journal:  Am J Hum Genet       Date:  2001-04-17       Impact factor: 11.025

2.  Rett syndrome--familial recurrence.

Authors:  C R Banapurmath; S Anees
Journal:  Indian J Pediatr       Date:  1995 Jul-Aug       Impact factor: 1.967

Review 3.  Genetic effects on human cognition: lessons from the study of mental retardation syndromes.

Authors:  P Nokelainen; J Flint
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-03       Impact factor: 10.154

4.  In search of a genetic basis for the Rett syndrome.

Authors:  P S Martinho; P G Otto; F Kok; A Diament; M J Marques-Dias; C H Gonzalez
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

Review 5.  Rett syndrome: a review of current knowledge.

Authors:  R Van Acker
Journal:  J Autism Dev Disord       Date:  1991-12

Review 6.  Experimental models of Rett syndrome based on Mecp2 dysfunction.

Authors:  Gaston Calfa; Alan K Percy; Lucas Pozzo-Miller
Journal:  Exp Biol Med (Maywood)       Date:  2011-01

7.  Angelman's syndrome.

Authors:  I Scheffer; E M Brett; J Wilson; M Baraitser
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

8.  Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations.

Authors:  Jennifer L Larimore; Christopher A Chapleau; Shinichi Kudo; Anne Theibert; Alan K Percy; Lucas Pozzo-Miller
Journal:  Neurobiol Dis       Date:  2009-01-03       Impact factor: 5.996

9.  Reduced concentrations and increased metabolism of biogenic amines in a single case of Rett-syndrome: a postmortem brain study.

Authors:  T Brücke; E Sofic; W Killian; A Rett; P Riederer
Journal:  J Neural Transm       Date:  1987       Impact factor: 3.575

10.  CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail.

Authors:  Laura Rusconi; Lisa Salvatoni; Laura Giudici; Ilaria Bertani; Charlotte Kilstrup-Nielsen; Vania Broccoli; Nicoletta Landsberger
Journal:  J Biol Chem       Date:  2008-08-13       Impact factor: 5.157
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