Results 191 to 200 of about 501,101 (381)

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks   +20 more
wiley   +1 more source

MicroRNAs in farm animals

open access: yesAnimal, 2013
MicroRNAs (miRNAs) are a class of ∼22 nucleotide-long small noncoding RNAs that target mRNAs for translational repression or degradation. miRNAs target mRNAs by base-pairing with the 3′-untranslated regions (3′-UTRs) of mRNAs.
X. Wang, Z. Gu, H. Jiang
doaj  

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier   +20 more
wiley   +1 more source

Studies of the Energy Requirements of Chickens

open access: hybrid, 1954
W.J. Mellen, F.W. Hill, H. H. Dukes
openalex   +1 more source

Cerebral Amyloid Angiopathy Is Associated With Higher R2 Relaxation Rate: An MRI and Pathology Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebral amyloid angiopathy (CAA) involves β‐amyloid deposition in the walls of cortical and leptomeningeal small vessels. Transverse relaxation rate (R2) is a major source of contrast in MRI. This study tested the hypothesis that CAA is associated with R2, extracted the spatial pattern of CAA‐related R2 abnormalities, and evaluated ...
Md Tahmid Yasar   +6 more
wiley   +1 more source

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