Results 101 to 110 of about 1,162 (290)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals 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

open access: yesAnnals 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

Determinants of Auditor Choice in Emerging Markets: Evidence from Egypt [PDF]

open access: yesالمجلة العلمية للدراسات والبحوث المالية والتجارية
The study aims to examine the various factors that affect the selection of auditors in Egypt's developing market. Eight characteristics of the audit firm has been examined as independent variables, Audit firm fees, audit firm reputation with investors ...
Dina Fadaly
doaj   +1 more source

Comparing the Effect of Semi‐Immersive Virtual Reality, Computerized Cognitive Training, and Traditional Rehabilitation on Cognitive Function in Multiple Sclerosis: A Randomized Clinical Trial

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio   +8 more
wiley   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez   +10 more
wiley   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li   +11 more
wiley   +1 more source

PENGARUH KOMPETENSI AUDITOR, SPESIALISASI AUDITOR, INDEPENDENSI AUDITOR, DAN ETIKA AUDITOR TERHADAP KUALITAS AUDIT (Studi Kasus pada Auditor Inspektorat di Semarang) [PDF]

open access: yes, 2016
This research aims to examine the influence of Auditor Competency, Auditor Specialization, Auditor Independency and Auditor Ethics of Audit Quality on the Auditor Inspectorate in Semarang (Central Java Province, Semarang City, and Semarang District ...
MAHENDRA, Rendi Setya, PURWANTO, Agus
core  

Does Auditor Industry Specialization Improve Audit Quality?

open access: yes, 2013
This study examines whether auditor industry specialization, measured using the auditor's within‐industry market share, improves audit quality and results in a fee premium.
MINUTTI‐MEZA, MIGUEL
core   +1 more source

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