Results 91 to 100 of about 83,390 (218)

Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1)

ChemMedChem, Volume 21, Issue 5, 13 March 2026.
DM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Camille Richagneux, Anton Granzhan
wiley   +1 more source

Roots of Progress: Uncovering Cerebellar Ataxias Using iPSC Models

Biomedicines
The 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, Valentina Naef, Filippo Maria Santorelli, Devid Damiani   +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, Ozlem M Herguner, Patrick Willems, Neslihan O Mungan   +3 more
doaj   +1 more source

Holmes Tremor Following Thalamic Tuberculoma—A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Tremor is the most common movement disorder, defined as a rhythmical oscillatory involuntary movement that can affect almost any body part. Holmes Tremor (HT) is an irregular, slow‐frequency (< 4.5 Hz) tremor that may include one or a combination of resting, postural, and action tremors.
Abera Kuma, Amanuel Anegagregn, Misganaw Yiglete Damte, Adugna Getahun Deboch, Yishak Endashaw, Melat Demisse, Yegzeru Belete   +6 more
wiley   +1 more source

Factor Analysis of the Neurological Evaluation Scale (NES) and Corresponding Brain Function and Structures

International Journal of Methods in Psychiatric Research, Volume 35, Issue 1, March 2026.
ABSTRACT Objective Neurological soft signs (NSS) are minor, non‐localizable neurological abnormalities. This study aimed to investigate the factor structure of the Neurological Evaluation Scale. Material and Methods A total of 355 subjects (233 patients and 122 general population subjects). NSS were assessed using the NES.
Konstantinos N. Fountoulakis, Calypso Mitkani, Theocharis Kyziridis, Panagiotis Panagiotidis, Eva‐Maria Tsapakis   +4 more
wiley   +1 more source

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia

Brain Sciences
Background: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features.
Jacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone, Gessica Vasco, Francesca Cumbo, Vito Luigi Colona, Adele D’Amico, Enrico Bertini, Francesco Nicita   +8 more
doaj   +1 more source

Epilepsy in spinocerebellar ataxia type 8: a case report

Journal of Medical Case Reports, 2019
Background Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities.
Arun Swaminathan
doaj   +1 more source

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, Volume 73, Issue 3, Page 395-402, March 2026.
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias

Arquivos de Neuro-Psiquiatria, 2015
The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion ...
Marcus Vinicius Cristino de Albuquerque, José Luiz Pedroso, Pedro Braga Neto, Orlando Graziani Povoas Barsottini   +3 more
doaj   +1 more source

Impact of a Neurogenic Dysphagia Outpatient Clinic on Diagnosis, Treatment, and Nutrition

European Journal of Neurology, Volume 33, Issue 3, March 2026.
This retrospective study analyzed 255 patients evaluated at a university‐led neurogenic dysphagia outpatient clinic between 2021 and 2023. It assessed diagnostic, therapeutic, and nutritional outcomes using FEES‐based swallowing evaluations. The findings show that structured outpatient dysphagia care significantly enhances diagnostic precision, guides ...
Bendix Labeit, Jasmin Bach, Elena Harborth, Rainer Dziewas, Sven G. Meuth, Christian Grefkes, Laurent Willems, Sriramya Lapa   +7 more
wiley   +1 more source