Results 21 to 30 of about 283 (168)
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
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
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.A multivalent DNA nanostructure‐enabled lateral flow assay was developed for rapid, ultrasensitive detection of porcine epidemic diarrhea virus (PEDV) nucleocapsid protein. Designer net‐shaped DNA nanostructures (DNA‐Net) presenting PEDV‐specific aptamers achieved ~1000‐fold enhanced binding, enabling detection of viral copies with Ct ≤ 37.42 within 10
Saurabh Umrao +9 more
wiley +1 more source
Sensitivity test using progressively diluted crude DNA with known mtDNA haplogroups.
, 2016 Samples 1 and 2 correspond to mtDNA haplogroups D4j and F2, respectively. Results obtained using multiplexes M-I and N-I are framed in yellow, while results obtained using multiplexes M-III and N-VI are framed in light green and purple, respectively ...
Phrabhakaran Nambiar (697531) +6 more
core +1 more source
Advanced Healthcare Materials, EarlyView.A human 3D bone niche integrating osteoblasts and osteoclasts enables co‐culture with prostate cancer cell lines and patient‐derived organoids. The engineered niche (i) models aspects of reciprocal phenotypic regulation between osteoblasts and cancer cells, (ii) captures osteoclast‐enhanced osteomimicry in tumor cells, and (iii) establishes a ...
Andrea Mazzoleni +7 more
wiley +1 more source
, 2019 The conventional methods used for the identification of enteric parasites are microscopy (O&P) and ELSA. The O&P method itself is subjective, laborious, time consuming, lacks sensitivity, and specificity.
Forghani Sardaghi, Narghes
core +1 more source
Sensitive and Spatially‐Resolved Electrochemiluminescence via Micropatterning
Advanced Materials Interfaces, EarlyView.The use of a simple silica nanoparticle surface coating and patterning process can transform ordinary gold electrodes into multiplexed ECL sensing electrodes. Through spatially confined droplet formation and local ECL emission, it is possible to perform multiple analyses simultaneously from individual locations as well as intensify the ECL signal by as
Yuliang Shao +12 more
wiley +1 more source
, 2009 Short amplicon autosomal short tandem repeat (Mini-STR) assay has proved to be a highly useful tool in forensic applications, especially for highly degraded DNA samples that typically result in partial profiles and total loss of information from regular ...
CAENAZZO, LUCIANA +7 more
core +1 more source