Results 141 to 150 of about 30,965,369 (298)
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
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
Writing for Screen Readers in the Wake of Indiana's e-filing Initiative
, 2017 James D. Dimitri, Writing for Screen Readers in the Wake of Indiana's e-filing Initiative, Res Gestae, Dec. 2015, at 25Last November, the Indiana Supreme Court took a major step in implementing an electronic filing system for Indiana’s courts by starting a pilot program of electronic filing for cases in the Supreme Court and the Court of Appeals ...
openaire +3 more sources
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
, 1996 Lo scopo di queste note quello di fornire un minimo di documentazione su due servizi attualmente definiti in via sperimentale sul Microvax del Laboratorio (Sistema Operativo VMS 5.2) e in attesa di essere migrati sulla Alphastation 200 4/166 con Sistema Operativo Open VMS 7.0.
openaire +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study aimed to investigate the immunological response to influenza vaccination, the incidence and severity of influenza infection, and the side effects of the vaccination in patients with ischemic stroke. Methods This prospective observational study was conducted between 2023 and 2024 at Ramathibodi Hospital.
Achiraya Pakngao +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub +24 more
wiley +1 more source
, 2019 Penelitian ini bertujuan untuk mempelajari mengenai pengaruh kesadaran pajak e-commerce dan penerapan e-filing terhadap kepatuhan wajib pajak pelaku e-commerce orang pribadi di DIY.
Feryna, Anastasia
core
Early Recognition of Treatment‐Responsive Rapidly Progressive Dementia: The Modified STAM3mP Score
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Early identification of patients with treatment‐responsive rapidly progressive dementia (RPD) is important as early treatment improves outcomes. The STAM3P score identifies treatment‐responsive RPD using “high risk” presenting features. We optimized performance by adding a time component (i.e., dementia within 3 months) and validated the ...
R. W. van Steenhoven +16 more
wiley +1 more source