Results 41 to 50 of about 1,212,597 (189)
Wolfram Sendromlu Hastalarda Optik Koherans Tomografi Bulguları
, 2014 Objectives: To report the optical coherence tomography (OCT) findings in patients with Wolfram syndrome. Materials and Methods: Four patients who fulfilled the criteria for Wolfram syndrome were recruited to the study.
Şansal Gedik +3 more
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TREATMENT OF WOLFRAM SYNDROME-RELATED NEURODEGENERATION [PDF]
, 2014 Provided is a method of treating and/or preventing Wolfram Syndrome (WS)-related neurodegeneration (i.e. of Wolfram Syndrome-Associated Neuronal Degeneration), by increasing the expression and/or functional activity of p21.
Nagy, Zsuzsanna; id_orcid +1 more
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Scientific Reports, 2019 Wolfram syndrome is a rare disease caused by mutations in the WFS1 gene leading to symptoms in early to mid-childhood. Brain structural abnormalities are present even in young children, but it is not known when these abnormalities arise. Such information
Heather M. Lugar +8 more
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Understanding activity participation among individuals with Wolfram syndrome
, 2018 Introduction Wolfram syndrome is a rare genetic disease associated with a variety of progressive metabolic and neurologic impairments. Previous research has focused on Wolfram syndrome-related impairments and biomarkers for disease progression; however ...
Erin R Foster +6 more
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Stem Cell Research, 2023 Pathogenic variants of the WFS1 gene can cause recessive-inherited Wolfram syndrome or dominant-inherited Wolfram-like syndrome with optic atrophy and hearing impairment. Using the Sendai virus delivery system, we generated induced pluripotent stem cells
Yen-Hui Chan +10 more
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Neurologic Features of Wolfram Syndrome [PDF]
, 2011 Researchers at Nice, Marseille, and Montpellier-Nimes, France, studied the nature and frequency of neurologic manifestations in 59 patients with Wolfram syndrome with genotype-phenotype ...
J Gordon Millichap
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Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle +4 more
wiley +1 more source
Frontiers in Genetics, 2023 Wolfram syndrome 1 (WFS1) gene mutations can be dominantly or recessively inherited, and the onset of the clinical picture is highly heterogeneity in both appearance and degree of severity.
Yuan Chen +11 more
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Advanced Healthcare Materials, EarlyView.Mitochondria‐targeted nanotherapies emerge as a promising strategy for combating aging‐associated neurodegenerative disorders (NDs) by restoring mitochondrial function, reducing oxidative stress, and improving neuronal survival. Recent advances in nanotechnology, therapeutic delivery, and translational research are highlighted, providing insights into ...
Dnyandev G. Gadhave +8 more
wiley +1 more source
Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis
Epilepsia, EarlyView.Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx +192 more
wiley +1 more source