Results 121 to 130 of about 22,252,197 (309)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

Generative Compression [PDF]

open access: yesarXiv, 2017
Traditional image and video compression algorithms rely on hand-crafted encoder/decoder pairs (codecs) that lack adaptability and are agnostic to the data being compressed. Here we describe the concept of generative compression, the compression of data using generative models, and suggest that it is a direction worth pursuing to produce more accurate ...
arxiv  

Discontinuation of Immunotherapy in Patients With Relapsing Myelitis Without AQP4/MOG Antibodies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study assesses the outcomes of immunotherapy discontinuation in patients with relapsing seronegative idiopathic myelitis (SIM), a condition that remains uninvestigated due to its rarity. We reviewed records from 77 patients with relapsing SIM at the National Cancer Center of Korea, focusing on 11 who discontinued treatment after a median ...
Ki Hoon Kim   +4 more
wiley   +1 more source

Analysis and Enhancement of Lossless Image Compression in JPEG-XL [PDF]

open access: yesarXiv
As the demand for digital information grows in fields like medicine, remote sensing, and archival, efficient image compression becomes crucial. This paper focuses on lossless image compression, vital for managing the increasing volume of image data without quality loss. Current research emphasizes techniques such as predictive coding, transform coding,
arxiv  

The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Determine the association between diabetes and metabolic syndrome (MetS) burden (number of MetS criteria fulfilled) and pain, neuropathy severity, and fiber type involvement in individuals with established polyneuropathy. Methods The Peripheral Neuropathy Research Registry was queried for individuals with type 1 and type 2 diabetes ...
Long Davalos   +13 more
wiley   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas   +24 more
wiley   +1 more source

Efficient sequencing data compression and FPGA acceleration based on a two-step framework. [PDF]

open access: yesFront Genet, 2023
Chen S   +10 more
europepmc   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte   +13 more
wiley   +1 more source

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