Results 101 to 110 of about 1,504,024 (293)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center
Indian Journal of OphthalmologyPurpose: To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India. Design: Retrospective observational study.
Abhishek Upadhyaya +11 more
doaj +1 more source
Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt +5 more
wiley +1 more source
THE POST-NONCLASSICAL STAGE OF CONCEPTUALIZATION OF THE TERM «HEREDITY»
Научный вестник МГТУ ГА, 2016 The peculiarities of conceptualization of the inheritance notion in the context of philosophical categories "property-substance", "internal-external" and other categories characteristic of the current period of post-non-classical stage of development of ...
A. A. Kochergin
doaj
Retinal Dystrophies Associated with Mutations in the RP1 Gene: Genotype–Phenotype Correlations
Current Issues in Molecular BiologyBackground: We evaluated the genetic and phenotypic features of a cohort of 10 Italian patients affected by Retinitis Pigmentosa (RP) associated with RP1 sequence variants.
Vito Spagnuolo +11 more
doaj +1 more source
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller +6 more
wiley +1 more source
Relationships Among Beef Cow Productivity Traits and Single Nucleotide Polymorphisms in the Bovine Heat Shock Protein 70 Gene [PDF]
, 2018 When eukaryotes are exposed to stressors such as heat, toxins, and low oxygen levels, heat shock proteins (HSPs) are synthesized to maintain normal cellular function within the body.
Finney, Ashley
core +2 more sources
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Hepatitis E virus infection among blood donors in Zhengzhou
Zhongguo shuxue zazhi[Objective] To analyze the infection status of hepatitis E virus (HEV) among blood donors in Zhengzhou, so as to provide data support for formulating local blood screening strategies.
ZHAO Hongna +8 more
doaj +1 more source