Results 91 to 100 of about 5,948 (206)
Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3
Stem Cell Research, 2016 The neurodegenerative disease spinocerebellar ataxia type 3 (SCA3) is caused by a CAG-repeat expansion in the ATXN3 gene. In this study, induced pluripotent stem cell (iPSC) lines were established from two SCA3 patients.
Susanne K. Hansen +10 more
doaj +1 more source
Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3
Molecular Genetics & Genomic Medicine, 2020 Background Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare.
Quan-Fu Li +6 more
doaj +1 more source
Mutation in RNF170 Causes Unsteady Gait with Hypertrophic Olivary Degeneration
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT Hypertrophic olivary degeneration (HOD) is a rare form of transsynaptic degeneration resulting from disruption of the Guillain–Mollaret triangle, typically presenting with palatal tremor, ataxia, and nystagmus. Mutations in the Ring Finger Protein 170 (RNF170) gene have been associated with autosomal dominant sensory ataxia.
Change Wang
wiley +1 more source
Depressive Symptoms in Machado-Joseph Disease (SCA3) Patients and Their Relatives
Public Health Genomics, 2006 <i>Objectives:</i> It was the aim of this study to determine the depression scores of Machado-Joseph disease (MJD) patients, their spouses, and individuals at 50% risk for MJD, and second, to verify the existence of a correlation between depressive symptoms and the degree of motor incapacitation. <i>Subjects and Methods:</i> Two
C R, Cecchin +8 more
openaire +2 more sources
Interdisciplinary Medicine, Volume 4, Issue 3, May 2026.This review illustrates how scientists engineer exosomes by hijacking the cell's own cargo‐sorting machinery. These strategies efficiently load therapeutic molecules into natural vesicles, creating powerful next‐generation drug delivery systems (Created with BioGDP.com).
Huanrong Zhu +6 more
wiley +1 more source
Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia
Annals of Clinical and Translational Neurology, Volume 13, Issue 4, Page 807-818, April 2026.ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel +5 more
wiley +1 more source
Green Entrepreneurial Mindset for a Sustainable Future: Does Environmental Dynamism Have a Say?
Business Strategy and the Environment, Volume 35, Issue 3, Page 3760-3773, March 2026.ABSTRACT The study investigates the influence of green entrepreneurial behaviour on the ever‐increasing concern to design a sustainable supply chain. The standard scales are utilized for the study, and data collected through online channels are tested for reliability and validity.
Rose Antony +2 more
wiley +1 more source
Structural Alterations of Upper Cervical Spinal Cord in Ataxic and Non-ataxic Mutation Carriers of Spinocerebellar Ataxia Type 3 (SCA3) [PDF]
, 2022 Objective: Spinocerebellar ataxia Type 3/Machado-Joseph disease (SCA3/MJD) is worldwide the most frequent autosomal dominantly inherited ataxia. Although the gene mutation causing SCA3 is known, there is up to now no treatment available.
Koyak, Berkan Serdal Can
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Research on Mitochondrial DNA Mutations in Patients with SCA3/MJD [PDF]
, 2017 Abstract Spinocerebellar ataxia type 3 (SCA3) is a degenerative neurological disorders caused by trinucleotide repeat expansion within the ataxin-3 gene. It is characterized by multi-system involvement and diverse clinical phenotypes, which cannot be fully explained the length of the CAG repeats.
Liu, Zhen +8 more
openaire +1 more source