Results 191 to 200 of about 8,328,477 (294)

Decoding common and complex genotypes of facioscapulohumeral muscular dystrophy using methylation profiling and long-read sequencing. [PDF]

Brain Commun
Scharf F, Lucas MC, Gehling S, Kleefeld F, Schönrock V, Benet-Pagès A, Rausch HW, Schirmer L, Schäfer J, Saak A, Porrmann J, Hütter S, Emde C, Boblest A, Neuhoff S, Hagenacker T, Burkart S, Mingers S, Berking AC, Olfe L, Hendrich C, Schröck K, Sauer E, Mossakowski AA, Sendelbach K, Koehler U, Becker K, Bartolomaeus T, Hallermayr A, Klink B, Neuhann T, Walter MC, Schoser B, Abicht A, Erdmann H.   +34 more
europepmc   +1 more source

Diffusion Basis Spectrum Imaging of Tissue Microstructure and Early Treatment in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Conventional MRI cannot resolve the coexisting pathological processes within multiple sclerosis tissue. Diffusion Basis Spectrum Imaging decomposes the diffusion signal into fiber, cell, and hindered ratios indexing axonal integrity, cellularity, and extracellular space, respectively.
Apisit Kaewsanit, Aime Luna, Bradley Judge, Nicole Shelley, Karl Friedrichsen, Jayashree Rajamanickam, Zhude Tu, Yong Wang, Tammie L. S. Benzinger, Qing Wang, Matthew R. Brier   +10 more
wiley   +1 more source

Comprehensive evaluation of structural variation detection for germline and somatic analysis with long-read sequencing data. [PDF]

Brief Bioinform
Shi H, Lin Y, Liu D, Wu H, Mat Isa AN, Wei L, Zou Q, Chen X.   +7 more
europepmc   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Long-read sequencing for cancer liquid biopsy: advancing precision oncology. [PDF]

Front Oncol
Guzman G, Rodriguez A.
europepmc   +1 more source

Controlling Grain Growth in Powder Bed Fusion of Yttria‐Stabilized Zirconia Using Femtosecond Lasers: Challenges and Methodological Insights

Advanced Engineering Materials, EarlyView.
Binder‐free laser powder bed fusion of 8YSZ with a femtosecond laser is used to map process windows linking scan strategy, heat accumulation, and grain growth. Time‐resolved thermography and simulations reveal thermal regimes that enable continuous, vitrified, and fine‐grained 8YSZ surface layers without absorptive additives and demonstrate ...
Markus Kühn, Sarah Kaden, Andrea Barz, Daniel Störzner, Jens Bliedtner, Andrés Fabián Lasagni   +5 more
wiley   +1 more source

Protocol for haplotype-resolved structural variant detection via long-read sequencing using cuteHap. [PDF]

STAR Protoc
Cao S, Wu C, He Y, Jiang T.
europepmc   +1 more source

Morphology, Transport, and Dynamics of Protein Adsorption in Open‐Cell Metal Foam

Advanced Engineering Materials, EarlyView.
Stainless steel (SS) open‐cell foams are shown to adsorb more protein per unit area than previously reported 316L SS and chromium oxide surfaces under static and flow conditions. An integrated approach combining 3D pore imaging, flow simulation, and protein adsorption experiments characterizes the foam’s performance.
Chinmaya Prerana Inguva, Joseph Lavoie, Afsaneh Rabiei   +2 more
wiley   +1 more source

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis. [PDF]

Mol Genet Genomic Med
Nakamura N, Nishio Y, Nyuzuki H, Fukushima A, Miura M, Kobayashi Y, Ishioka R, Tsukada K, Oka Y, Tsujikawa K, Morinaga H, Inaba M, Tohyama J, Nakazawa Y, Ikeuchi T, Ono T, Saitoh S, Ogi T.   +17 more
europepmc   +1 more source

Long-read sequencing approaches to unravel the complex architecture of RFC1 repeat expansion associated with Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS)

reservedCerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS) is a late-onset, autosomal recessive neurodegenerative disease, clinically manifested as a combination of cerebellar ataxia, sensory neuronopathy, and bilateral vestibular ...
MENINI, IRIS
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