Results 131 to 140 of about 366,865 (319)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
Molecular Oncology, EarlyView.RETRACTION: S. Gopinath, K. Alapati, R. R. Malla, C. S. Gondi, S. Mohanam, D. H. Dinh, and J. S. Rao, “Mechanism of p27 Upregulation Induced by Downregulation of Cathepsin B and Upar in Glioma,” Molecular Oncology 5, no. 5 (2011): 426–437, https://doi.org/10.1016/j.molonc.2011.07.004.
wiley +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
MOESM6 of Giant group I intron in a mitochondrial genome is removed by RNA back-splicing
, 2019 Additional file 6: Figure S4. Amplexidiscus fenestrafer back-splicing ND5 precursor RNA coverage.
Sylvia Chi (6789341) +3 more
core +1 more source
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Grammar systems in simple splicing [PDF]
, 2013 Splicing systems was first introduced by Head in 1987 as a mathematical model of the generative formalism that initiates the connection between formal language theory and the study of deoxyribonucleic acid (DNA). The mathematical modeling of splicing was
Shukri, Nurul 'Alyaa'
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Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
, 2023 Anti-tumor CD8+ T cells recognize peptides of 8-to-10 amino acids that are presented at the surface of tumors by molecules of the major histocompatibility complex I (MHC I). These peptides generally result from the degradation of cellular proteins by the
Vigneron, Nathalie +4 more
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Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
, 2010 Context: The GH receptor (GHR) pseudoexon 6 Psi defect is a frequent cause of GH insensitivity (GHI) resulting from a non-functioning GH receptor (GHR). It results in a broad range of phenotypes and may also be present in patients diagnosed as idiopathic
Srirangalingam, U +4 more
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