Results 101 to 110 of about 7,196 (214)
Ca2+ signaling and spinocerebellar ataxia
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2018 Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily characterized by gait ataxia, and additional clinical features include nystagmus, dysarthria, tremors and cerebellar atrophy. Forty-four hereditary SCAs have been identified to date, along with >35 SCA-associated genes. Despite
Chihiro, Hisatsune +2 more
openaire +2 more sources
The FEBS Journal, EarlyView.Insoluble protein aggregates are a hallmark of neurodegenerative diseases like amyotrophic lateral sclerosis (ALS). The ubiquitin–proteasome system (UPS) serves as a neuroprotective quality control mechanism that clears aggregates. PML nuclear bodies (NBs) were proposed to serve as hubs for SUMO‐primed ubiquitylation and degradation of misfolded ...
Tabea Stark, Stefan Müller
wiley +1 more source
The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype
Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli +4 more
wiley +1 more source
Cognitive and motor reserve in Parkinson's disease: Two sides of the same coin?
Journal of Neuropsychology, EarlyView.Abstract Cognitive reserve (CR) and motor reserve (MR) are constructs that can explain why some people are more resilient than others to neurodegenerative diseases such as Parkinson's disease (PD). However, it is unclear whether these reserves exert domain‐specific or cross‐domain influences.
Isabella Anzuino +7 more
wiley +1 more source
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias.
, 2011 The cerebellum is implicated in maintaining the saccadic subsystem efficient for vision by minimizing movement inaccuracy and by learning from endpoint errors.
PRETEGIANI E +6 more
core +1 more source
Roots of Progress: Uncovering Cerebellar Ataxias Using iPSC Models
BiomedicinesThe inaccessibility of human cerebellar tissue and the complexity of its development have historically hindered the study of cerebellar ataxias, a genetically diverse group of neurodegenerative disorders.
Michela Giacich +3 more
doaj +1 more source
Spinocerebellar ataxia-21 in a Turkish child
Annals of Indian Academy of Neurology, 2018 Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral ...
Faruk Incecik +3 more
doaj +1 more source
Technologies for engineering repetitive DNA
Quantitative Biology, Volume 14, Issue 3, September 2026.Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley +1 more source
Neuropsychiatric symptoms in spinocerebellar ataxias and Friedreich ataxia
, 2023 Apart from its role in motor coordination, the importance of the cerebellum in cognitive and affective processes has been recognized in the past few decades.
Vyhnalek Martin +3 more
core +1 more source