Results 221 to 230 of about 80,232 (259)

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

open access: yes
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 761-763, March 2026.
Hiromi Sumitomo   +3 more
wiley   +1 more source

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Whole‐exome sequencing in three Iranian families identified two novel KCNJ10 variants (p.A118T, p.Y323H) associated with seizures, ataxia, developmental delay and hearing loss without renal involvement. ABSTRACT Background Mutations in the KCNJ10 gene cause SeSAME syndrome, an autosomal recessive disorder characterised by seizures, sensorineural ...
Shayan Shakeri   +4 more
wiley   +1 more source

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

open access: yesInternational 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   +4 more
wiley   +1 more source

Clinical features of autoimmune cerebellar ataxia related to neuronal antibodies. [PDF]

open access: yesFront Immunol
Cai Y   +8 more
europepmc   +1 more source

Nerve Ultrasound in Patients With Friedreich Ataxia

open access: yesMuscle &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   +9 more
wiley   +1 more source

Autoimmune Neurobeachin Cerebellar Ataxia. [PDF]

open access: yesMov Disord
Basal E   +3 more
europepmc   +1 more source

Prolonged Anti‐Zic4 Antibody–Positive Cerebellar Degeneration Following COVID‐19 Infection

open access: yesNeuropsychopharmacology Reports, Volume 46, Issue 1, March 2026.
Serial MRI and SPECT revealed progressive cerebellar atrophy and worsening hypoperfusion over 2 years, despite partial clinical stabilization. These findings highlight radiological progression that exceeds symptom severity in post‐COVID anti‐Zic4 antibody–associated cerebellar degeneration.
Risa Suzuki‐Yamamoto   +6 more
wiley   +1 more source

Neuropsychiatric Manifestations of Degenerative Cerebellar Ataxia. [PDF]

open access: yesBrain Sci
Tamaš O   +7 more
europepmc   +1 more source

Primary Meningeal Extraskeletal Osteosarcoma in a Domestic Shorthaired Cat: Case Report and Review of Comparative Pathology

open access: yesVeterinary Medicine and Science, Volume 12, Issue 2, March 2026.
A domestic shorthaired cat with neurological signs compatible with a forebrain lesion was investigated with magnetic resonance imaging, revealing a mass with intracranial and extracranial components. Due to the poor prognosis the cat was euthanized, and gross and histopathological examination identified an extraskeletal osteosarcoma with its origin in ...
Jacqueline Poldy   +5 more
wiley   +1 more source

Capture of Longitudinal Change in Real-Life Walking in Cerebellar Ataxia Increases Patient Relevance and Effect Size. [PDF]

open access: yesMov Disord
Seemann J   +8 more
europepmc   +1 more source

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