Results 71 to 80 of about 1,186 (215)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Modification of Huntington’s disease by short tandem repeats
Brain CommunicationsAbstract Expansions of glutamine-coding CAG trinucleotide repeats cause a number of neurodegenerative diseases, including Huntington’s disease and several of spinocerebellar ataxias. In general, age-at-onset of the polyglutamine diseases is inversely correlated with the size of the respective inherited expanded CAG repeat.
Eun Pyo Hong +20 more
openaire +3 more sources
Arthritis Care &Research, EarlyView.Objective The objective of this article is to identify perceptions of patients with systemic lupus erythematosus (SLE) regarding artificial intelligence (AI)–based online symptom assessment tools, and the potential of these tools to address diagnostic barriers.
Olivia A. Stein +7 more
wiley +1 more source
Advanced Functional Materials, EarlyView.P4bm framework in NaNbO3‐Ba(Ti, Hf)O3 ferrodistortive relaxor entails short‐range and highly‐polar ferrodistortive orders. The abundant highly‐polar orders facilitate to increase entropy change, and robust octahedral oxygen tilt enables to impede thermal perturbations.
Feng Li +11 more
wiley +1 more source
Advanced Functional Materials, EarlyView.This work presents a ligand‐pairing strategy that reconstructs lead sulfide quantum dot surfaces for efficient short‐wave infrared optoelectronics. A low‐reactivity thiourea precursor combined with hydrobromic acid enables monodisperse and fully passivated quantum dots.
Dongeon Kim +16 more
wiley +1 more source
Analysis of 31 STR loci in the genetic isolate of Carloforte (Sardinia, Italy)
Genetics and Molecular Biology, 2009 The genotypes of 31 autosomal short tandem repeat loci in the population of Carloforte were analyzed, these representing a linguistic and genetic isolate located on the island of Sardinia (Italy). The markers span the entire length of chromosomes 19, 20,
Renato Robledo +3 more
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Analysis of Short Tandem Repeats by Parallel DNA Threading
PLoS ONE, 2009 The majority of studies employing short tandem repeats (STRs) require investigation of several of these genetic markers. As such, we demonstrate the feasibility of the trinucleotide threading (TnT) approach for scalable analysis of STRs. The TnT method represents a parallel amplification alternative that addresses the obstacles associated with ...
Pawel Zajac +2 more
openaire +4 more sources
Advanced Functional Materials, EarlyView.This work introduces an ultrafast thermal shock strategy to synthesize a CuNiSnLa medium‐entropy metallic glass (MEMG). The rapid heating and cooling process generates a robust, highly active catalyst for electrocatalytic nitrate reduction to ammonia (NRA).
Hongbo Chen +7 more
wiley +1 more source
Genetics and Molecular Biology, 2009 In this study we tested the cross-amplification of 33 microsatellite loci previously developed for two closely related Neotropical orchid genera (Epidendrum and Laelia). A set of ten loci were polymorphic across five examined species (20 individuals each)
Fábio Pinheiro +3 more
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