Results 301 to 310 of about 557,186 (345)

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Functional Annotation Analytics of Bacillus Genomes Reveals Stress Responsive Acetate Utilization and Sulfate Uptake in the Biotechnologically Relevant Bacillus megaterium

Bioinformatics and Biology Insights, 2012
Baraka S. Williams, Raphael D. Isokpehi, Andreas N. Mbah, Antoinesha L. Hollman, Christina O. Bernard, Shaneka S. Simmons, Wellington K. Ayensu, Bianca L. Garner   +7 more
doaj  

Whole genome sequencing and functional annotation of <i>Fusarium oxysporum</i> f. sp. <i>lentis</i> to unravel virulence and secondary metabolite biosynthesis gene clusters. [PDF]

Front Genet
Kharte S, Kumar A, Mishra P, Ramakrishnan RS, Sharma S, Mishra N, Chauhan PS, Sharma R, Gautam V, Tiwari S, Goyal V, Sharma S, Koutu GK, Joshi NK.   +13 more
europepmc   +1 more source

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey, Jennifer M. Farmer, David R. Lynch   +2 more
wiley   +1 more source

eRNA-IDO: A One-stop Platform for Identification, Interactome Discovery, and Functional Annotation of Enhancer RNAs. [PDF]

Genomics Proteomics Bioinformatics
Zhang Y, Gong L, Ding R, Chen W, Rong H, Li Y, Shameem F, Ali KA, Li L, Liao Q.   +9 more
europepmc   +1 more source

Draft Genome data including functional annotation of an emerging fungal pathogen <i>Neodothiora populina</i> causing a canker disease of trembling aspen in Interior Alaska. [PDF]

PhytoFront
Schütte UME, Wages M, Buechlein A, Kovash JP, Wrenn DC, Smrhova T, Zubrova A, Rusch DB, Winton LM, Adams GC, Ruess RW, Leigh MB, Drown DM.   +12 more
europepmc   +1 more source

Commentary: The International Mouse Phenotyping Consortium: high-throughput in vivo functional annotation of the mammalian genome. [PDF]

Mamm Genome
Lloyd KCK.
europepmc   +1 more source

Metagenomic insights into microbial community, functional annotation, and antibiotic resistance genes in Himalayan Brahmaputra River sediment, India. [PDF]

Front Microbiol
Sharma N, Das BK, Bhattacharjya BK, Chaudhari A, Behera BK, Kumar AP, Chakraborty HJ.   +6 more
europepmc   +1 more source

Search for and functional annotation of multi-domain PLA2 family proteins in flatworms.

Vavilovskii Zhurnal Genet Selektsii
Bocharnikova ME, Turnaev II, Afonnikov DA.   +2 more
europepmc   +1 more source

Combining functional annotation and multi-trait fine-mapping methods improves fine-mapping resolution at glycaemic trait loci

Soenksen J, Chen J, Varshney A, Martin S, MAGIC, Parker SCJ, Morris AP, Asimit JL, Barroso I.   +8 more
europepmc   +1 more source