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
Progress and challenges in intrathecal gene therapy for neurological disorders. [PDF]
Kagiava A +4 more
europepmc +1 more source
Pathophysiological implications of actin-free Gc-globulin concentration changes in blood plasma and cerebrospinal fluid collected from patients with Alzheimer’s disease and other neurological disorders [PDF]
Alina Kułakowska +7 more
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
Copper Homeostasis and Cuproptosis in Neurological Disorders. [PDF]
Liu W, Xue Y, Cao C, Yang L, Zhang L.
europepmc +1 more source
Functional Neurological Disorders: Challenging the Mainstream Agnostic Causative Position [PDF]
Anton Scamvougeras, David Castle
openalex +1 more source
Reorienting health systems in South-East Asia to deliver care for mental and neurological disorders [PDF]
Nazneen Anwar +2 more
openalex +1 more source
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
Elucidating the multitarget neuroprotective mechanisms of protocatechuic acid in neurological disorders (Review). [PDF]
Xue X, Lai Y, Song S, Wu L, Wang L.
europepmc +1 more source

