Results 91 to 100 of about 42,506 (235)
The FEBS Journal, EarlyView.Redox environment modulates in vitro aggregation of Ataxin‐3, the protein implicated in spinocerebellar ataxia type 3. Reducing conditions stabilize native monomers and prevent aggregation, whereas oxidative conditions promote the formation of non‐native conformers and disulfide‐linked oligomers within the Josephin domain (JD).
Martyna Podlasiak +10 more
wiley +1 more source
Angewandte Chemie, Volume 138, Issue 18, 27 April 2026.We here developed a molecular tool for the optical control of UGGAA repeat RNA foci, a pathological hallmark of spinocerebellar ataxia type 31 (SCA31). The photoswitchable RNA‐binding ligand enabled reversible control of the RNA foci. UV irradiation induced the growth of the RNA foci, while subsequent visible light irradiation dissolved the structure ...
Yusuke Fujiwara +2 more
wiley +2 more sources
Two New Cases of Uner Tan Syndrome: One Man\ud with Transition from Quadrupedalism to Bipedalism;\ud One Man with Consistent Quadrupedalism [PDF]
, 2010 Background: Uner Tan syndrome, first described in\ud 2005, consists of three main symptoms: habitual\ud locomotion on all four extremities, impaired\ud intelligence, and dysarthric or no speech.
Tan, Prof. Dr. Uner
core
The role of the cerebellum in unconsciuos and conscious processing of emotions: a review [PDF]
, 2017 Studies from the past three decades have demonstrated that there is cerebellar involvement in the emotional domain. Emotional processing in humans requires both unconscious and conscious mechanisms.
Clausi, Silvia +5 more
core +1 more source
Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder
Movement Disorders Clinical Practice, EarlyView.
Petros Boumis +14 more
wiley +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
Cerebellar ataxias and functional movement disorders: navigating clinical overlap
BMJ Neurology OpenBackground Functional movement disorders (FMDs) are commonly classified along canonical non-ataxic movement disorder patterns, creating a potential blind spot for frequently observed ataxia-like presentations. At the same time, normal diagnostic findings
Stoyan Popkirov +4 more
doaj +1 more source
MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2
Case Reports in Neurology, 2017 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12.
Fumihito Yoshii +3 more
doaj +1 more source
DNA repair in the trinucleotide repeat disorders [PDF]
, 2017 Background Inherited diseases caused by unstable repeated DNA sequences are rare, but together represent a substantial cause of morbidity. Trinucleotide repeat disorders are severe, usually life-shortening, neurological disorders caused by nucleotide ...
Houlden, Henry +2 more
core +2 more sources
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1261-1266, June 2026.ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge +9 more
wiley +1 more source