Results 131 to 140 of about 206,873 (358)

Channelopathies in fragile X syndrome

Nature Reviews Neuroscience, 2021
P. Deng, V. Klyachko
semanticscholar   +1 more source

Epigenetics of fragile X syndrome and fragile X‐related disorders

Developmental Medicine & Child Neurology, 2018
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.
C. Kraan, D. Godler, D. Amor
semanticscholar   +1 more source

Shear Wave Optical Coherence Elastography and Structural Analysis of the Postnatal Mouse Cornea through Development

Journal of Biophotonics, EarlyView.
This paper investigates the geometrical and biomechanical properties of neonatal eyes at the early stages of development. We found that the corneal thickness is uncoupled from elastic wave speed and that the content and organization of the cornea primarily influence its mechanical properties.
Andrew L. Lopez III, Mohammad Dehshiri, Alexander W. Schill, Salavat Aglyamov, Kirill Larin   +4 more
wiley   +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

Neurological findings in patients with the fragile-X syndrome. [PDF]

, 1985
Pasquale F. Finelli, Siegfried M. Pueschel, T Padre-Mendoza, Maureen M. O’Brien   +3 more
openalex   +1 more source

THE FRAGILE X SYNDROME

International Journal of Clinical Practice, 1994
SUMMARYThe contributions of fragile X syndrome to mental retardation have been underestimated. It is the most common form of familial mental retardation and one of the most common genetic diseases. Its long‐term burden upon families and services is considerable.
openaire   +2 more sources

A longitudinal study of psychological distress during and after COVID‐19 restrictions in caregivers of children with intellectual disability in the UK

JCPP Advances, EarlyView.
Abstract Introduction The current study explored longitudinally whether child behaviours that challenge and caregiver coping strategies was associated with psychological distress in caregivers of children with and without intellectual disability during and after lockdown.
Karri Gillespie‐Smith, Karen Goodall, Doug McConachie, Jo Van Herwegen, Hayley Crawford, Carrie Ballantyne, Caroline Richards, Thomas Gallagher‐Mitchell, Joanna Moss, Grace Khawam, Laura Outhwaite, Emily Marriott, Freyja Steindorsdottir, Hope Christie   +13 more
wiley   +1 more source

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

Proposed Mechanism of Inheritance and Expression of the Human Fragile-X Syndrome of Mental Retardation [PDF]

, 1987
Charles D. Laird
openalex   +1 more source

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

PLoS Genetics, 2014
Friedreich ataxia (FRDA) and Fragile X syndrome (FXS) are among 40 diseases associated with expansion of repeated sequences (TREDs). Although their molecular pathology is not well understood, formation of repressive chromatin and unusual DNA structures ...
Matthias F. Groh, M. Lufino, R. Wade-Martins, N. Gromak   +3 more
semanticscholar   +1 more source