Results 101 to 110 of about 83,390 (218)

Conditional deletion of the multiple sclerosis susceptibility gene ATXN1 identifies cell‐autonomous effects in the B‐cell compartment

The FEBS Journal, Volume 293, Issue 5, Page 1459-1477, March 2026.
Ataxin‐1 is a polyglutamine protein associated with the etiology of spinocerebellar ataxia type 1 (SCA1) that has been recently found implicated in the risk of developing the autoimmune disorder multiple sclerosis (MS). Here, we took a conditional knockout approach to ablate ataxin‐1 exclusively in the B‐cell compartment and we found that this protein ...
Jonathan Jacob Carver, Rachael Riley Denbrock, Cindy Carolina Martines, Alessandro Didonna   +3 more
wiley   +1 more source

A Review of Spinocerebellar Ataxias in Taiwan

Acta Neurologica Taiwanica
Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by inherited progressive cerebellar ataxia with or without other associated features. The clinical presentations of these affected SCA patients are very heterogeneous.
Chia-Ju Lee, Chin-San Liu, Society for Neurological Rare Disorders-Taiwan   +2 more
doaj   +1 more source

The novel ITPR1 p.Phe2566Ser variant impairs IP3R1‐mediated Ca2+ release and is associated with ataxia and miosis

Journal of Internal Medicine, EarlyView.
Josephine Wincent, Songbai Zhang, Andrew Nolan, Shigeaki Kanatani, Frida Nordin, Malin Kvarnung, Per Uhlén, Martin Paucar, Ilse Eidhof   +8 more
wiley   +1 more source

Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese

Arquivos de Neuro-Psiquiatria
Introduction: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese. Methods: The steps of this study were
Fernanda Aparecida Maggi, Pedro Braga-Neto, Hsin Fen Chien, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Mariana Callil Voos, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +9 more
doaj   +1 more source

Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of
Hélio A. G. Teive, Adriana Moro, Walter O. Arruda, Salmo Raskin, Gladys M. G. Teive, Norberto Dallabrida, Renato P. Munhoz   +6 more
doaj   +1 more source

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 761-763, March 2026.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

Functional implications of paralog genes in polyglutamine spinocerebellar ataxias. [PDF]

Hum Genet, 2023
Felício D, du Mérac TR, Amorim A, Martins S.   +3 more
europepmc   +1 more source

Clinical value of vestibulo-ocular reflex in the differentiation of spinocerebellar ataxias. [PDF]

Sci Rep, 2023
Kim JM, Nam TS, Choi SM, Kim BC, Lee SH.
europepmc   +1 more source

Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To make the diagnosis for a patient presented with head tremor and cerebellar atrophy by integrating clinical features and accessory examination with genetic testing and to explore the interpretation of genetic testing results.
Kun-ming XIE, Wei-hong GU, Ying HAO, Yuan-yuan CHEN, Jin ZHANG, Xin ZHANG   +5 more
doaj  

Zebrafish Models of Rare Neurological Diseases like Spinocerebellar Ataxias (SCAs): Advantages and Limitations. [PDF]

Biology (Basel), 2023
Sarasamma S, Karim A, Orengo JP.
europepmc   +1 more source