Results 31 to 40 of about 225,713 (333)
A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse [PDF]
, 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.
core +1 more source
Developmental aspects of FXAND in a man with the FMR1 premutation. [PDF]
, 2020 BackgroundFragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD).
Emeka-Nwonovo, Chinelo +6 more
core +1 more source
Pediatric Neurology Briefs, 2000 The proceedings of the 9th International Workshop on Fragile X Syndrome and X-Linked Mental Retardation, held in Strasbourg, France, are reported from the University Hospital of Leuven, Belgium.
J Gordon Millichap
doaj +1 more source
Manifestaciones neurológicas en el adulto con premutación X frágil [PDF]
, 2010 Introduction: Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats.
Cabanyes-Truffin, J. (J.)
core +1 more source
Fragile X syndrome and associated disorders: Clinical aspects and pathology.
Neurobiology of Disease, 2020 This review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with Fragile X ...
M. Salcedo-Arellano +4 more
semanticscholar +1 more source
Developmental Medicine & Child Neurology, 1992 SUMMARYWe have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQS. These children present an enormous challenge to all child‐care providers, be they in medicine, education, or in various therapy
E, Goldson, R J, Hagerman
+8 more sources
Psychopathology in Fragile X Syndrome
Pediatric Neurology Briefs, 1989 The physical and behavioral features of the fragile X syndrome are reviewed in a paper from the Child Development Unit and Behavioral Sciences Department, Children’s Hospital, Denver.
J Gordon Millichap
doaj +1 more source
A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders.
Neuron, 2019 Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS), autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are therefore classified as synaptopathies.
Claudia Bagni, Claudia Bagni, R. Zukin
semanticscholar +1 more source
Neuroanatomy of Fragile X Syndrome
Pediatric Neurology Briefs, 1991 Posterior fossa abnormalities measured by magnetic resonance images of the brain were reported in a group of 14 males with fragile X syndrome from the Division of Child Psychiatry, and the Departments of Psychiatry and Radiology, The Johns Hopkins ...
J Gordon Millichap
doaj +1 more source
Fragile X Syndrome and Targeted Treatments
Journal of Biomedicine and Translational Research, 2020 Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies.
Nattaporn Tassanakijpanich +3 more
doaj +1 more source