Results 131 to 140 of about 40,130 (258)

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

Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X Syndrome. [PDF]

Neurol Genet
Van Steenbergen A, Kaur M, Rubanarayana K, Bolduc F.   +3 more
europepmc   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

Capturing Phenotypic Heterogeneity in Differentiated Sensory Processing Profiles: Non-Syndromic Autism and Fragile X Syndrome. [PDF]

Autism
Knott CE, Roberts JE, Will EA.
europepmc   +1 more source

Unraveling in vitro phase separation and aggregation properties of the structured region of FMRP and the impact of Fragile X syndrome‐linked mutations

The FEBS Journal, EarlyView.
Fragile X messenger ribonucleoprotein 1 (FMRP) is a multidomain RNA‐binding protein associated with Fragile X Syndrome (FXS). We found that its N‐terminal structured region has an intrinsic propensity to undergo liquid–liquid phase separation and fibril formation. FXS‐associated mutations perturb protein stability and aggregation propensity, suggesting
Flavia Catalano, Alessandra Bigi, Francesca Troilo, Federica Gabriele, Gianluca Pistoia, Italia A. Asteriti, Francesco Angelucci, Giorgio Giardina, Fabrizio Chiti, Carlo Travaglini‐Allocatelli, Adele Di Matteo   +10 more
wiley   +1 more source

Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments

Haemophilia, EarlyView.
ABSTRACT Rare bleeding disorders (RBDs) represent a diverse group of inherited conditions involving coagulation factors or platelets. These conditions, such as Glanzmann thrombasthenia (GT) or severe coagulation factor deficiencies, are uncommon. In contrast, bleeding disorder of unknown cause (BDUC) is a diagnosis of exclusion without an identifiable ...
Alessandro Casini, Robert Klamroth, Bauke Haisma, Dino Mehic, Saskia E. M. Schols   +4 more
wiley   +1 more source

Gene Therapy for Fragile X Syndrome, Challenges, and Promises. [PDF]

J Gene Med
Velinov M.
europepmc   +1 more source

Screening for bone health in older people with HIV: Uptake and outcomes from a large UK outpatient HIV service

HIV Medicine, EarlyView.
Abstract Objectives Bone health is negatively affected in people with HIV, and the risks of osteoporosis and fragility fractures are increased. The objective of this study was to describe the characteristics of those accessing bone health screening and identify factors associated with osteoporosis.
Rhys Nicholas, Kate Alford, Colin Fitzpatrick, Jaime Vera   +3 more
wiley   +1 more source

Age-Related Decline in Dendritic Architecture of Hippocampal CA1 Principal Neurons in a Mouse Model of Fragile X Syndrome. [PDF]

Dev Neurobiol
Farooqi NNU, Nyengaard JR, Banke TG.
europepmc   +1 more source

Associations Between Imaging‐Detected Pulp Calcification and Systemic Diseases: A Systematic Review, Thematic Analysis, and Meta‐Analysis

International Endodontic Journal, EarlyView.
ABSTRACT Background Pulp calcification (PC) is a common imaging finding traditionally attributed to local factors or ageing. However, increasing evidence suggests that it may be associated with broader systemic biological disturbances. Clarifying this association may help determine whether dental pulp findings contribute to the interpretation of ...
José Evando da Silva‐Filho, Paula Maria da Costa Torres, Eduardo Diogo Gurgel‐Filho   +2 more
wiley   +1 more source