Results 161 to 170 of about 615,504 (306)

The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss. [PDF]

open access: yesEBioMedicine
Xiao Y   +13 more
europepmc   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

open access: yesAnnals 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

Chinese Glass before the Han Dynasty

open access: yes, 2008
According to archaeological evidence, the earliest glass eye beads were discovered in Egypt, which date back to early third millennium B.C. The eye beads occurred as the earliest glass products in China after ninth century B.C. It soon became clear that these beads not only resembled Western specimens were decorative motifs where concerned, but also ...
openaire   +1 more source

Effectiveness of rTMS on Working Memory and Inhibitory Impairments in Patients With Post‐Stroke Executive Deficits

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao   +6 more
wiley   +1 more source

Maternal genetic structure and population affinities of the Sichuan Han Chinese based on whole mitochondrial genomes. [PDF]

open access: yesBMC Genomics
Jiang X   +12 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals 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

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