Results 71 to 80 of about 40,130 (258)
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
A Case Report of Fragile X Syndrome with Fingers Anomaly
پزشکی بالینی ابن سینا, 2003 Fragile X Syndrome, the most common cause of inherited mental retardation, results from mutation in fragile X mental retardation gene (FMR1) on long arm of X chromosome, Xq27.3.
Farah Ashrafzadeh +2 more
doaj
Cerebellar Vermis Hypoplasia in Fragile X Syndrome
Pediatric Neurology Briefs, 1998 Investigators at the Kennedy Krieger Institute, Johns Hopkins University School of Medicine, have compared posterior vermis size (cross-sectional area) measured by MRI in 32 males with fragile X syndrome (fra X), 28 males with other causes of cognitive ...
J Gordon Millichap
doaj +1 more source
The multiple hit model of infantile and epileptic spasms: The 2025 update
Epilepsia Open, EarlyView.Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou +6 more
wiley +1 more source
Future Postharvest and Food, EarlyView.A nutrient‐dense grain, proso millet is well‐known for its high protein content and vital amino acids. It is high in fiber, vitamins, and minerals and has many health advantages, including promoting heart health, enhancing digestion, and helping with weight management.
Sangeeta Yadav +3 more
wiley +1 more source
Síndrome frágil X Fragile X Syndrome
Revista Cubana de Investigaciones Biomédicas, 2007 Se efectuó una revisión sobre el síndrome frágil X, del cual en Cuba no existían reportes desde el punto de vista poblacional, hasta la realización del estudio psicopedagógico, social y clínico genético de las personas con retraso mental; mediante el ...
doaj
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
Health Care Science, EarlyView.This review elucidates the crosstalk between Parkinson's disease and colorectal cancer, driven by shared genetics (PRKN, PINK1, DJ‐1) involving oxidative stress, cell cycle regulation, and inflammation. It identifies the gut microbiota—via functional amyloids and short‐chain fatty acids (SCFAs)—as a mechanistic bridge, offering insights for dual ...
Jiacheng Ying +6 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
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Pregnancy‐ and lactation‐associated osteoporosis (PLO) is a syndrome characterized by fragility fractures (most commonly vertebral, often multiple) occurring in late pregnancy or the early postpartum period. This position statement summarizes the current knowledge of PLO, and the recommended procedure for assessment, diagnosis and treatment ...
Peyman Hadji +20 more
wiley +1 more source