Results 321 to 330 of about 6,061,790 (368)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

A Systematic Clinical Framework for Postimplantation Monitoring in Thalamic Neuromodulation: Insights From Twiddler's Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This case described a 25‐year‐old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic–clonic seizures despite optimal ...
Shalin Shah, Ganne Chaitanya, Jeston Chin, Nicholas Delcimmuto, Jay R. Gavvala   +4 more
wiley   +1 more source

Reply to Letter: Real‐World Clinical Experience With Serum MOG and AQP4 Antibody Testing by Live Versus Fixed Cell‐Based Assay

Annals of Clinical and Translational Neurology, EarlyView.
Yana Said, Conlan Tran, LuAnn Rezavi, Patrizio Caturegli, Eoin P. Flanagan, Elias S. Sotirchos   +5 more
wiley   +1 more source

Cervical Spinal Cord Magnetization Transfer Ratio and Its Relationship With Clinical Outcomes in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The cervical spinal cord (cSC) is highly relevant to clinical dysfunction in multiple sclerosis (MS) but remains understudied using quantitative magnetic resonance imaging (MRI). We assessed magnetization transfer ratio (MTR), a semi‐quantitative MRI measure sensitive to MS‐related tissue microstructural changes, in the cSC and its ...
Lisa Eunyoung Lee, Julien Cohen‐Adad, Irene M. Vavasour, Melanie Guenette, Katherine Sawicka, Neda Rashidi‐Ranjbar, Nathan Churchill, Akash Chopra, Adelia Adelia, Pierre‐Louis Benveniste, Anthony Traboulsee, Nathalie Arbour, Fabrizio Giuliani, Larry D. Lynd, Scott B. Patten, Alexandre Prat, Alice Schabas, Penelope Smyth, Roger Tam, Yunyan Zhang, Simon J. Graham, Mojgan Hodaie, Anthony Feinstein, Shannon Kolind, Tom A. Schweizer, Jiwon Oh, CanProCo Study Group   +26 more
wiley   +1 more source

Molecular Characterization of a Restriction Endonuclease PsaI from <i>Pseudomonas anguilliseptica</i> KM9 and Sequence Analysis of the PsaI R-M System. [PDF]

Int J Mol Sci
Furmanek-Blaszk B, Mruk I, Sektas M.
europepmc   +1 more source

UniClo: scarless hierarchical DNA assembly without sequence constraint. [PDF]

Nucleic Acids Res
Flores-Fernández CN, Lin D, Robins K, O'Callaghan CA.   +3 more
europepmc   +1 more source

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Evolutionary dynamics of restriction site avoidance.

Physical Review Letters, 2012
Molecular noise in bacterial restriction-modification systems can cause rare events of host DNA cleavage at restriction sites. Such noise-induced selective pressure may result in evolved sequences exhibiting restriction site avoidance.
Long Qian, E. Kussell
semanticscholar   +4 more sources

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Science, 1985
Two new methods were used to establish a rapid and highly sensitive prenatal diagnostic test for sickle cell anemia. The first involves the primer-mediated enzymatic amplification of specific beta-globin target sequences in genomic DNA, resulting in the ...
R. Saiki, S. Scharf, F. Faloona, K. Mullis, G. Horn, H. Erlich, N. Arnheim   +6 more
semanticscholar   +1 more source

Errors between sites in restriction site mapping

Bioinformatics, 1988
Restriction site mapping programs construct maps by generating permutations of fragments and checking for consistency. Unfortunately many consistent maps often are obtained within the experimental error bounds, even though there is only one actual map.
Dorota H. Kieronska, Trevor I. Dix
openaire   +3 more sources

Mapping of restriction sites in the attachment site region of bacteriophage lambda [PDF]

Molecular and General Genetics MGG, 1977
A find structure map of the EcoRI fragment containing the lambda attachment-site region has been constructed. 38 different restriction endonucleases have been employed and 170 sites located in this fragment. In addition, sites in adjacent regions have been determined for several enzymes.
David Zipser, Dietmar Kamp, Regine Kahmann, Richard J. Roberts   +3 more
openaire   +2 more sources