Results 1 to 10 of about 45,821 (302)
Emerging pharmacologic treatment options for fragile X syndrome
, 2015 Tori L Schaefer, Matthew H Davenport, Craig A Erickson Division of Child and Adolescent Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA Abstract: Fragile X syndrome (FXS) is the most common single gene cause of ...
Schaefer TL, Erickson CA, Davenport MH
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Speech fluency in fragile X syndrome
, 2008 The present study investigated the dysfluencies in the speech of nine French speaking individuals with fragile X syndrome. Type, number, and loci of dysfluencies were analysed.
Rondal, Jean +5 more
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A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions
eNeurologicalSciFragile X-associated tremor/ataxia syndrome is a neurodegenerative disorder affecting carriers of a premutation in the FMR1 gene involving expansion of CGG repeats. We present the case of a 66-year-old man with fragile X-associated tremor/ataxia syndrome
Kunihiko Ishizawa +11 more
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Sensory Processing Phenotypes in Fragile X Syndrome
ASN Neuro, 2018 Fragile X syndrome (FXS) is a neurodevelopmental disorder that causes intellectual disability. It is a leading known genetic cause of autism. In addition to cognitive, social, and communication deficits, humans with FXS demonstrate abnormal sensory ...
Maham Rais +3 more
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Facts About Fragile X Syndrome [PDF]
Fragile X syndrome (FXS) is the most common known cause of intellectual disability that can be inherited, which means in can be passed from parent to child. FXS affects both males and females. However, females often have milder symptoms than males.
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F1000Research, 2013 It has become increasingly important that the field of behavioral genetics identifies not only the gross behavioral phenotypes associated with a given mutation, but also the behavioral endophenotypes that scale with the dosage of the particular mutation ...
Michael R. Hunsaker
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Psychiatric and Autistic Comorbidity in Fragile X Syndrome Across Ages
, 2011 Fragile X syndrome is caused by CGG trinucleotide repeat expansion within the fragile X mental retardation 1 gene, when repeat number exceeds 200. The typical psychiatric profile of fragile X syndrome patients includes cognitive and behavioral deficits,
Ariela Jokel +3 more
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FRAGILE X SYNDROME AND FRAGILE XE MENTAL RETARDATION [Review]
, 1996 There are two forms of mental handicap associated with fragile sites on the end of the long arm of the X chromosome. The well known common disorder Fragile X syndrome is associated with FRAXA and a rare non-specific form of mental handicap is associated ...
Mulley, J., Sutherland, G.
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Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems
, 2008 Randi J Hagerman1,2, Deborah A Hall3, Sarah Coffey1,2, Maureen Leehey3, James Bourgeois4, John Gould5, Lin Zhang6, Andreea Seritan4, Elizabeth Berry-Kravis7–9, John Olichney6, Joshua W Miller10, Amy L Fong11, Randall Carpenter12, Cathy Bodine13 ...
Sarah Coffey +5 more
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Altered GABA signalling in a mouse model of fragile X syndrome.
, 2007 The absence of fragile X mental retardation protein results in the fragile X syndrome (FXS), a common form of mental retardation associated with attention deficit, autistic behavior, and epileptic seizures. The phenotype of FXS is reproduced in fragile X
Papouin T +3 more
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