Results 41 to 50 of about 27,331 (253)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Nonsense-mediated mRNA decay (NMD): a bifunctional mechanism in human physiology and disease [PDF]
, 2020 Publication: Fernandes R, Nogueira G, da Costa PJ, Pinto F, Romão L. Nonsense-Mediated mRNA Decay in Development, Stress and Cancer. Adv Exp Med Biol. 2019;1157:41-83.
Fernandes, Rafael, Romão, Luísa
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SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Nonsense mRNA suppression via nonstop decay
eLife, 2018 Nonsense-mediated mRNA decay is the process by which mRNAs bearing premature stop codons are recognized and cleared from the cell. While considerable information has accumulated regarding recognition of the premature stop codon, less is known about the ...
Joshua A Arribere, Andrew Z Fire
doaj +1 more source
Characterization of the mIF4G Domains in the RNA Surveillance Protein Upf2p
Current Issues in Molecular Biology, 2023 Thirty percent of all mutations causing human disease generate mRNAs with premature termination codons (PTCs). Recognition and degradation of these PTC-containing mRNAs is carried out by the mechanism known as nonsense-mediated mRNA decay (NMD).
Edgardo M. Colón +5 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
View of Morristown from Fort Nonsense
, 2011 From the heights of Fort Nonsense the Freedom Tower in Manhattan is visible to the east. This view demonstrates the strategic value of this place as a lookout point.Original file name fort-nonsense-in-morristown-nj_5434107196_o (1 ...
Beards, Daniel E.
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A Novel Mutation of PARK-2 Gene in a Patient with Early-onset Parkinson’s Disease
Oman Medical Journal, 2020 Between 3–5% of all patients with Parkinson’s disease (PD) have onset before the age of 40 years, which is likely related to genetic causes. Parkin gene mutations are the most common mutations, which are associated with autosomal recessive early-onset PD.
Tariq Alafifi +4 more
doaj +1 more source
Nonsense on Stilts? – The Economic Analysis of HS2 [PDF]
, 2020 This title of this blog is based upon is upon Peter Self’s critical book on Cost-Benefit Analysis (CBA),Nonsense on Stilts: Econocrats and the Policy Process, that heavily criticised the use of the technique in the proceedings of the Roskill Commission ...
Budd, Leslie
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