Results 81 to 90 of about 15,463 (269)

The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease

Brain Pathology, EarlyView.
SIDT2‐immunoreactive inclusions are observed in the striatum, cerebral cortex, and hypothalamus in HD cases with different Vonsattel grades, and the frequency of SIDT2‐immunoreactive inclusions is associated with longer CAG repeats in the huntingtin gene.
Sanaz Gabery, Sofia Bergh, Chrisovalantou Huridou, Rachel Y. Cheong, Barbara Baldo, Paul Günther Scheunemann, Marie‐Louisa Schoebel, Linda Holmquist Mengelbier, Elisabet Englund, Catriona McLean, Carsten Saft, Deniz Kirik, Maria Björkqvist, Glenda Halliday, Elisabeth Petrasch‐Parwez, Huu Phuc Nguyen, Jonasz Jeremiasz Weber, Åsa Petersén   +17 more
wiley   +1 more source

Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia [PDF]

, 2006
Background: Although mentioned in most series, “pure” autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds.
Coutinho, P., Cruz, V., Guimarães, J., Silva, S., Tuna, A.   +4 more
core  

Tradução e validação da escala para avaliação e graduação de ataxia (SARA) para versão brasileira [PDF]

, 2010
The hereditary ataxias comprise a very large spectrum of genetically determined neurodegenerative disorders with progressive ataxia as the prominent symptom.
Barsottini, Orlando Graziani Povoas, Braga-neto, Pedro, Dutra, Lívia Almeida, Godeiro-junior, Clecio, Pedroso, José Luiz   +4 more
core   +3 more sources

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Cognitive dysfunction in spinocerebellar ataxias

Dementia & Neuropsychologia
Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of complex neurodegenerative diseases, characterized by the presence of progressive cerebellar ataxia, associated or otherwise with ophthalmoplegia, pyramidal signs, extrapyramidal features ...
Helio Afonso Ghizoni Teive, Walter Oleschko Arruda   +1 more
doaj   +1 more source

Spinocerebellar ataxia: perceptual and acoustic analysis of speech in three cases [PDF]

, 2009
BACKGROUND: dysarthrias are commonly found in patients with spinocerebellar ataxias (SCA). AIM: to characterize perceptual and acoustic features of speech in three patients with spinocerebellar ataxia and to verify the presence of similar features among ...
Barreto, Simone dos Santos, Mantovani-Nagaoka, Joana, Martins, Fernanda Chapchap, Ortiz, Karin Zazo   +3 more
core   +2 more sources

Redox environment modulates aggregation of ataxin‐3 in vitro — Implications for drug screening of cysteine‐rich proteins

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, Martina Sollazzo, Elisa Monaca, Raffaele Sabbatella, Maria Agnese Morando, Oleg Chertkov, Laura Puglisi, Martina Mascellino, Anna Fricano, Sandra Macedo‐Ribeiro, Caterina Alfano   +10 more
wiley   +1 more source

Phototriggered Morphological and Compositional Change of UGGAA Repeat RNA Foci by Photoswitchable RNA‐Binding Ligand

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, Tomonori Shibata, Chikara Dohno   +2 more
wiley   +2 more sources

A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2 [PDF]

, 2017
Metabotropic glutamate receptor 1 (mGluR1) function in Purkinje neurons (PNs) is essential for cerebellar development and for motor learning and altered mGluR1 signaling causes ataxia.
Meera, P, Otis, T, Pulst, S
core   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source