Experience with direct-acting antivirals in genotype 1-5 infected chronic hepatitis C patients in Turkey. [PDF]
Ann Saudi Med, 2023 Sahin A, Akay O.
europepmc +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan +9 more
wiley +1 more source
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
260. IDENTIFYING DISTAL GENOTYPE-SPECIFIC INTERACTIONS BETWEEN RUNT-RELATED TRANSCRIPTION FACTOR 1 AND JUVENILE IDIOPATHIC ARTHRITIS ASSOCIATED SINGLE NUCLEOTIDE POLYMORPHISMS BY CHROMOSOME CONFORMATION CAPTURE [PDF]
, 2017 Christopher J. Taylor +7 more
openalex +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
IDDF2019-ABS-0210 Preliminary efficacy and safety of 8-week glecaprevir/pibrentasvir in patients with HCV genotype 1–6 infection and compensated cirrhosis: the EXPEDITION-8 study [PDF]
, 2019 Robert S. Brown +15 more
openalex +1 more source
A population-based study of glutathione-S-transferase M1, T1 and P1 genotypes [PDF]
, 2008 A retrospective study on healthy, unrelated subjects was conducted in order to estimate population glutathione-S-transferases (GST) genotype frequencies in Slovak population of men and compare our results with already published data (GSEC project)^1^.
Duš +6 more
core +1 more source
Epstein-Barr virus genotype-1 and Mediterranean + strain in gastric cancer biopsies of Ghanaian patients. [PDF]
Exp Biol Med (Maywood), 2023 Ampofo-Asiedu J +4 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han +8 more
wiley +1 more source