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Cognitive and behavioral heterogeneity in genetic syndromes
(Soc Brasil PediatriaRio De Janeiro, RjBrasil, 2014)
The fragile x-associated tremor and ataxia syndrome (FXTAS)
(Academia Brasileira de Neurologia - ABNEURO, 2010)
FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene ...
Trastornos del neurodesarrollo (síndrome X frágil) y neurodegenerativos (síndrome de temblor/ataxia) asociados al ‘crecimiento’ de un gen
(Revista de Neurología 40 (7) p. 431-437, 2005-04-01)
To present the latest findings on fragile X syndrome, the first genetic disorder identified to be caused by a new type of mutation called trinucleotide repeat expansion. Development. Fragile X syndrome is the most common ...
Características da comunicação em indivíduos com a síndrome do X frágilCharacteristics of the communication in individuals with fragile X syndrome
(Academia Brasileira de Neurologia - ABNEURO, 2002)
WORD-FINDING DIFFICULTIES, VERBAL PARAPHASIAS, AND VERBAL DYSPRAXIA IN 10 INDIVIDUALS WITH FRAGILE-X-SYNDROME
(Wiley-Blackwell, 1995-02-27)
Speech/language disorders are common in the fragile X syndrome. [Howard-Peebles, 1979: Am J Hom Genet 31:214-222; Renier et al., 1983: J Ment Defic Res 27:51-59; Sparks, 1984: Birth Defects and Speech-Language Disorders, ...