RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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
SWI3A/B regulates the transition from vegetative to reproductive phase in the liverwort Marchantia polymorpha. [PDF]
Lozano-Quiles M +3 more
europepmc +1 more source
Law and reproduction of the class society: a critical study on legal education in Brazil
Thaíssa Louyse Bezerra da Câmara
openalex +1 more source
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
Harshness Predicts Reproduction in Brazilian Municipalities and US Counties: A Life History Theory Approach. [PDF]
Koehler VB, Rutherford MD.
europepmc +1 more source
The shading effect on biomass, reproduction and anatomy of Salvinia auriculata (Salviniaceae)
Jessica Cristina Carvalho
openalex +1 more source
Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu +11 more
wiley +1 more source
Monitoring reproduction in cryptic small mammals; using body temperature to identify parturition in an endangered rodent. [PDF]
Gérard T +4 more
europepmc +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
Serial Interval and Intervention Efficiency in Pertussis Outbreak, South Korea, 2024. [PDF]
Akhmetzhanov AR, de Padua B, Dushoff J.
europepmc +1 more source

