Results 51 to 60 of about 15,997 (234)
Epileptic Disorders, EarlyView.Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
wiley +1 more source
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy. [PDF]
, 2015 Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients' molecular and clinical diagnoses.
Avila-Fernandez, A. +10 more
core +2 more sources
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
Gene therapy for retinal dystrophy [PDF]
Nature Medicine, 2019 Counteracting splice defects in the CEP290 gene using RNA antisense oligonucleotides or Cas9-mediated gene editing is a therapeutic strategy for Leber congenital amaurosis type 10—a severe untreatable retinal dystrophy leading to childhood blindness.
Sahel, José-Alain, Dalkara, Deniz
openaire +3 more sources
Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort
Journal of OphthalmologyPurpose. The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods. The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry ...
Víctor R. López-Rodríguez +7 more
doaj +1 more source
Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy
Türk Oftalmoloji Dergisi, 2022 Objectives:Hereditary retinal dystrophies are a rare group of diseases which are heterogeneous in genotype and phenotype and result in total blindness.
Neslihan Sinim Kahraman +3 more
doaj +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies
Frontiers in Cell and Developmental Biology, 2021 Retinal dystrophies (RD) are a group of Mendelian disorders caused by rare genetic variations leading to blindness. A pathogenic variant may manifest in both dominant or recessive mode and clinical and genetic heterogeneity makes it difficult to ...
Imen Habibi +8 more
doaj +1 more source
Staging concept for aging management: Definition, mechanism, and coping strategies
VIEW, EarlyView.We divided the overall aging stage into “pre‐aging”, “aging compensation”, and “aging disability”. For each stage, we delineate the clinical presentations, biological phenomena, theoretical underpinnings, and key management priorities. Abstract Aging, as a gradual and largely irreversible biological process, characterized by declining organismal ...
Zhonghan Wang +6 more
wiley +1 more source
The Evolution of Fabrication Methods in Human Retina Regeneration
Applied Sciences, 2021 Optic nerve and retinal diseases such as age-related macular degeneration and inherited retinal dystrophies (IRDs) often cause permanent sight loss. Currently, a limited number of retinal diseases can be treated.
Beatrice Belgio +3 more
doaj +1 more source