Results 41 to 50 of about 7,199,374 (204)

Fragile X Syndrome: Steps towards Therapy [PDF]

, 2013
In a continuously developing society we are still confronted with intellectual disability (ID) and autism around us with quite a high prevalence. 1 in 88 children is diagnosed with autism spectrum disorder (ASD), while 2-3% of the general population is
Pop, A.S. (Andreea)
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

FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome [PDF]

Scientific Reports, 2020
AbstractFragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe autism features in FXS males.
Baker, EK, Arpone, M, Kraan, C, Minh, B, Rogers, C, Field, M, Bretherton, L, Ling, L, Ure, A, Cohen, J, Hunter, MF, Santa Maria, L, Faundes, V, Curotto, B, Morales, P, Trigo, C, Salas, I, Alliende, A, Amor, DJ, Godler, DE   +19 more
openaire   +3 more sources

Increased Calcium Influx through L-type Calcium Channels in Human and Mouse Neural Progenitors Lacking Fragile X Mental Retardation Protein

Stem Cell Reports, 2018
Summary: The absence of FMR1 protein (FMRP) causes fragile X syndrome (FXS) and disturbed FMRP function is implicated in several forms of human psychopathology.
Claudia Danesi, Venkat Swaroop Achuta, Padraic Corcoran, Ulla-Kaisa Peteri, Giorgio Turconi, Nobuaki Matsui, Ilyas Albayrak, Veronika Rezov, Anders Isaksson, Maija L. Castrén   +9 more
doaj   +1 more source

Drug REpurposing using AI/ML tools - for Rare Diseases (DREAM-RD): A case study with Fragile X Syndrome (FXS) [PDF]

, 2020
Abstract Drug repositioning is emerging as an increasingly relevant option for rare disease therapy and management. Various methods for identifying suitable drug candidates have been tried and range from clinical symptomatic repurposing to data driven strategies which are based on the disease-specific gene or protein ...
Kavitha Agastheeswaramoorthy, Aarti Sevilimedu   +1 more
openaire   +1 more source

Status epilepticus in fragile X syndrome

, 2010
Epilepsy is frequent in fragile X syndrome (FXS), the most common cause of inherited mental retardation. Status epilepticus (SE), however, seems exceptional in FXS, particularly as an initial epileptic manifestation.
Roulet-Perez, E., Gauthey, Magali, Claudia B. Poloni, Roulet-Perez, Eliane, Korff, Christian, Eliane Roulet-Perez, Poloni, Claudia B., Korff, C.M., Poloni, C.B., Gauthey, M., Magali Gauthey, Christian M. Korff, Korff, Christian M., Gian-Paolo Ramelli, Ramelli, G.P., Ramelli, Gian-Paolo, Poloni CB, Ramelli GP, Gauthey M, Roulet-Perez E, Korff CM   +20 more
core   +1 more source

Statistical power in UK genetic syndrome research; evidence from studies of Down syndrome, Fragile X syndrome and Williams syndrome as model syndrome groups

British Journal of Developmental Psychology, EarlyView.
Abstract Research on genetic syndromes is vital to our understanding of how development unfolds, but the rarity of genetic syndromes can mean that studies are carried out with small sample sizes. Small sample sizes can reduce the statistical power of a study to produce reliable and replicable results.
Emily K. Farran, Sophia Alexiou, Henrik Danielsson, Camilla Orefice, Laura Cristescu, Elizabeth Pellicano, Jo Van Herwegen, Gaia Scerif   +7 more
wiley   +1 more source

Reliability and stability of cerebral palsy classification scales for individuals with STXBP1‐ and SYNGAP1‐related disorders

Developmental Medicine &Child Neurology, EarlyView.
Aim To determine the interrater reliability and stability of the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS)/Mini‐MACS, and Communication Function Classification System (CFCS) in individuals with STXBP1‐ and SYNGAP1‐related disorders.
Samuel R. Pierce, Julie M. Orlando, Kristin G. Cunningham, Sarah M. Ruggiero, Michael C. Kaufman, Jillian L. McKee, Ingo Helbig   +6 more
wiley   +1 more source

Serotonin dysregulation in Fragile X Syndrome: implications for treatment [PDF]

, 2014
Fragile X Syndrome (FXS) is a trinucleotide repeat disorder that results in the silencing of the Fragile X Mental Retardation 1 gene (FMR1), leading to a lack of the FMR1 protein (FMRP).
Hanson, Alicia C, Hagerman, Randi J
core   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source