Results 151 to 160 of about 453,156 (401)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley +7 more
wiley +1 more source
The Molecular Pathology of Prion Diseases [PDF]
, 2004 Prion diseases, or transmissible spongiform encephalopathies (TSEs), are a group of invariably fatal neurodegenerative disorders. Uniquely, they may present as sporadic, inherited, or infectious forms, all of which involve conversion of the normal ...
Herms, Jochen +2 more
core
Effect of Selenium Deficiency on the Development of Overt Hepatic Encephalopathy in Patients with Chronic Liver Disease [PDF]
, 2023 Yuki Nakahata +7 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
Frontiers in MedicineHepatolenticular Degeneration (HLD) is a rare condition caused by a genetic copper metabolism disorder and a basal ganglia-dominated degenerative brain disease. Its characteristic clinical features include progressive extrapyramidal symptoms, psychiatric
Zhuang Tao +5 more
doaj +1 more source
Revista Clínica Española (English Edition), 2020 Rosales-Castillo, Antonio +1 more
openaire +3 more sources
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Optimized dengue fever animal model: IFNAR−/− BALB/c mice with intraperitoneal injection. Background screening: Between IFNAR−/− (BALB/c, C57BL/6) and AG129 mice, IFNAR−/−BALB/c exhibited the most severe symptoms: (1) highest weight loss and clinical scores; (2) peak viremia (5.44 log10 RNA copies/mL, day 4); (3) significant organ damage (liver/brain ...
Dan Liao +9 more
wiley +1 more source
STING deficiency promotes motor recovery in mice following brachial plexus root avulsion
Animal Models and Experimental Medicine, EarlyView.STING deficiency can increase the body weight, promote motor recovery, decrease MN death, inhibit pyroptosis and neuroinflammation, increase remyelination, and reduce the atrophy of the biceps brachii in mice with BPRA. Abstract Background Brachial plexus root avulsion (BPRA), a well‐known form of peripheral nerve injury, results in motor function loss
Yu Peng +4 more
wiley +1 more source
Clinical analysis of Wallenberg's syndrome
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Objective To summarize the clinical features of Wallenberg syndrome (WS). Methods Clinical manifestations, imaging features, etiology and predisposing factors, treatment and prognosis of 36 WS patients from March 2015 to October 2017 were retrospectively
Jie HU +4 more
doaj