Results 41 to 50 of about 329,948 (199)

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

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer   +11 more
wiley   +1 more source

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani   +10 more
wiley   +1 more source

A Comparison of Recreation Curriculum between United States of America and Turkey

open access: yesSakarya University Journal of Education, 2017
The aim of this research is to examine comparatively the lessons at Recreation Department Education Programme at the universities in America and Turkey .Document analysis method, which is one of the qualitative search method, is used in the study.The ...
Abdulmenaf Korkutata
doaj   +1 more source

Bir Üniversite Hastanesi İç Hastalıkları Kliniği Tarafından Bakılan Konsültasyonların Değerlendirilmesi [tr] / The Evaluation of Consultations Performing by an University Hospital Internal Medicine Clinic [en]

open access: yesOnline Türk Sağlık Bilimleri Dergisi, 2020
Amaç: Bu çalışmanın amacı; hastanemizde istenen iç hastalıkları konsültasyonlarının retrospektif olarak incelenmesi ve konsültas-yon istemlerindeki eksikliklerin saptanmasıdır.
Alper Emre KURT   +2 more
doaj   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon   +5 more
wiley   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay   +13 more
wiley   +1 more source

DEVLET ÜNİVERSİTELERİNDE SÜREÇ YÖNETİMİNE GEÇİŞ ÇABALARI: ORDU ÜNİVERSİTESİ ÖRNEĞİ

open access: yesEkonomi Maliye İşletme Dergisi
İktisadi ve toplumsal yaşamı etkileyen, sanayi devrimlerinin gerçekleşmesini sağlayan unsurların başında teknolojik gelişmeler gelmektedir. Teknolojik gelişmelere bağlı üretim, girdi-dönüşüm-çıktı süreciyle gerçekleşmektedir.
Güven Karaman
doaj   +1 more source

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif   +17 more
wiley   +1 more source

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