Results 71 to 80 of about 45,899 (203)

Fragile x-associated tremor/ataxia syndrome

Journal of the Belgian Society of Radiology, 2012
Background: A 64-year-old male experiences resting and intentional tremor. The complaints aggravated progressively over the last few years and appeared first at the head and later at the upper limbs.
A S Michel, B Claikens
doaj   +1 more source

Hyperactivity, perseveration and increased responding during attentional rule acquisition in the Fragile X mouse model

Frontiers in Behavioral Neuroscience, 2013
Attentional deficits and executive function impairments are common to many neurodevelopmental disorders of intellectual disability and autism, including Fragile X syndrome.
Ioannis eKramvis, Ioannis eKramvis, Huibert eMansvelder, Maarten eLoos, Maarten eLoos, Rhiannon eMeredith   +5 more
doaj   +1 more source

A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse

, 2004
Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
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Prader-Willi-like phenotype in fragile X syndrome

, 1994
Prader-Willi-like phenotype in fragile X syndrome. Schrander-Stumpel C, Gerver WJ, Meyer H, Engelen J, Mulder H, Fryns JP. Department of Clinical Genetics, Maastricht University Hospital, The Netherlands.
Frijns, J.P., Gerver, W.J.M., Mulder, H., Schrander-Stumpel, C.T.R.M., Meyer, H., Engelen, J.J.M.   +5 more
core   +1 more source

Epigenetics of fragile X syndrome and fragile X-related disorders [PDF]

, 2019
The fragile X mental retardation 1 gene (FMR1)-related disorder fragile X syndrome (FXS) is the most common heritable form of cognitive impairment and the second most common cause of comorbid autism.
Amor, DJ, Kraan, CM, Godler, DE
core   +1 more source

Towards Mechanism-Based Treatments for Fragile X Syndrome

Brain Sciences, 2019
Fragile X syndrome (FXS) is the most common heritable form of intellectual disability, as well as the most common known monogenic cause of autism spectrum disorder (ASD), affecting 1 in 4000−8000 people worldwide [...]
Daman Kumari, Inbal Gazy
doaj   +1 more source

Relation between mathemathical abilities and other cognitive domains in X-Fragile syndrome [PDF]

openIl presente elaborato si propone di offrire un quadro generale sullo stato della ricerca attuale riguardo le abilità numeriche nei soggetti affetti da sindrome di X Fragile.
POTENZA, ROBERTA
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Cross‐syndrome comparison of psychopathological risk factors in Williams syndrome, fragile X syndrome and Prader–Willi syndrome

, 2018
Background: Psychopathology is highly prevalent in adolescents and adults with several genetic syndromes associated with intellectual disability, including Williams syndrome (WS), fragile X syndrome (FXS) and Prader–Willi syndrome (PWS).
Armitage, P, Oliver, C, Waite, J, Howlin, P, Dosse, A, Moss, J, Royston, R   +6 more
core   +1 more source

CRISPR to the Rescue: Advances in Gene Editing for the FMR1 Gene

Brain Sciences, 2019
Gene-editing using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) is promising as a potential therapeutic strategy for many genetic disorders.
Carolyn M. Yrigollen, Beverly L. Davidson   +1 more
doaj   +1 more source

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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